Author "Abitbol, Marie"

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1. A CDH23 missense variant in Beauceron dogs with non‐syndromic deafness [2023]

  • Abitbol, Marie, Jagannathan, Vidhya, Lopez, Marie, Courtin, Ambre, Dufaure de Citres, Caroline, Gache, Vincent, and Leeb, Tosso
  • Animal genetics. 54(1):73-77

2. Golden cats: A never-ending story! [2022]

  • Abitbol, Marie, Dargar, Tanushri, and Gache, Vincent
  • Animal Genetics. October, 2022, Vol. 53 Issue 5, p715, 4 p.

3. A PNPLA8 frameshift variant in Australian shepherd dogs with hereditary ataxia [2022]

  • Abitbol, Marie, Jagannathan, Vidhya, Laurent, Nelly, Noblet, Eglantine, Dutil, Guillaume F., Troupel, Thibaut, Dufaure de Citres, Caroline, Gache, Vincent, Blot, Stéphane, Escriou, Catherine, and Leeb, Tosso
  • Animal Genetics. October, 2022, Vol. 53 Issue 5, p709, 4 p.

4. Mining the 99 Lives Cat Genome Sequencing Consortium database implicates genes and variants for the Ticked locus in domestic cats (Felis catus) [2021]

  • Lyons, LA, Buckley, RM, Harvey, RJ, Abitbol, Marie, Aberdein, Danielle, Alves, Paulo C, Andersson, Asa Ohlsson, Bellone, Rebecca R, Bergström, Tomas F, Bilgen, Nuket, Boyko, Adam R, Brockman, Jeffrey A, Casal, Margret L, Castelhano, Marta G, Davis, Brian W, Davison, Lucy, Distl, Ottmar, Dodman, Nicholas H, Ellinwood, N Matthew, Fogle, Jonathan E, Forman, Oliver P, Garrick, Dorian J, Ginns, Edward I, Häggström, Jens, Hasegawa, Daisuke, Haase, Bianca, Jagannathan, Vidhya, Lait, Philippa, Hernandez, Isabel, Hytönen, Marjo K, Kaukonen, Maria, Kosho, Tomoki, Leclerc, Emilie, Lear, Teri L, Leeb, Tosso, Li, Ronald HL, Lohi, Hannes, Longeri, Maria, Magnuson, Mark A, Malik, Richard, Mane, Shrinivasrao P, Middleton, Rondo, Munday, John S, Murphy, William J, Myers, Alexandra N, Pedersen, Niels C, Peterson‐Jones, Simon M, Rothschild, Max F, Rusbridge, Clare, Schoenebeck, Jeffrey J, Shapiro, Beth, Stern, Joshua A, Swanson, William F, Terio, Karen A, Todhunter, Rory J, Warren, Wesley C, Wilcox, Elizabeth A, Wildschutte, Julia H, and Yu, Yoshihiko
  • Animal Genetics. 52(3)
Subjects
Genetics, Human Genome, 2.1 Biological and endogenous factors, Aetiology, Alleles, Amino Acid Sequence, Animals, Breeding, Cats, Genome, Hair Color, Intercellular Signaling Peptides and Proteins, Phenotype, Abyssinian, coat pattern, Dickkopf, Wnt, Signaling, Pathway Inhibitor 4, DKK4, Tabby, Lives Cat Genome Consortium, DKK4, DickkopfWntSignalingPathway Inhibitor 4, Tabby, Zoology, Veterinary Sciences, and Dairy & Animal Science
Abstract
Tabby patterns of fur coats are defining characteristics in wild and domestic felids. Historically, three autosomal alleles at one locus (Tabby): Abyssinian (Ta ; a.k.a. ticked), mackerel (Tm ; a.k.a. striped) and blotched (tb ; a.k.a. classic, blotched) were thought to control these patterns in domestic cats and their breeds. Currently, at least three loci influence cat tabby markings, two of which are designated Tabby and Ticked. The Tabby locus is laeverin (LVRN) and affects the mackerel and blotched patterns. The unidentified gene for the Ticked locus on cat chromosome B1 was suggested to control the presence or absence of the ticked pattern (Tabby - Abyssinian (Ta ; a.k.a. ticked). The cat reference genome (Cinnamon, the Abyssinian) has the ticked phenotype and the variant dataset and coat phenotypes from the 99 Lives Cat Genome Consortium (195 cats) were used to identify candidate genes and variants associated with the Ticked locus. Two strategies were used to find the Ticked allele(s), one considered Cinnamon with the reference allele or heterozygous (Strategy A) and the other considered Cinnamon as having the variant allele or heterozygous (Strategy B). For Strategy A, two variants in Dickkopf Wnt Signaling Pathway Inhibitor 4 (DKK4), a p.Cys63Tyr (B1:41621481, c.188G>A) and a less common p.Ala18Val (B1:42620835, c.53C>T) variant are suggested as two alleles influencing the Ticked phenotype. Bioinformatic and molecular modeling analysis suggests that these changes disrupt a key disulfide bond in the Dkk4 cysteine-rich domain 1 or Dkk4 signal peptide cleavage respectively. All coding variants were excluded as Ticked alleles using Strategy B.

5. Werewolf, There Wolf: Variants in Hairless Associated with Hypotrichia and Roaning in the Lykoi Cat Breed. [2020]

  • Buckley, Reuben M, Gandolfi, Barbara, Creighton, Erica K, Pyne, Connor A, Bouhan, Delia M, LeRoy, Michelle L, Senter, David A, Gobble, Johnny R, Abitbol, Marie, Lyons, Leslie A, and 99 Lives Consortium
  • Genes. 11(6)
Subjects
Lives Consortium, Hair Follicle, Hair, Animals, Cats, Breeding, Hair Color, Polymorphism, Single Nucleotide, Alleles, Felis catus, HR, atrichia, domestic cat, fur, naked, and Genetics
Abstract
A variety of cat breeds have been developed via novelty selection on aesthetic, dermatological traits, such as coat colors and fur types. A recently developed breed, the lykoi (a.k.a. werewolf cat), was bred from cats with a sparse hair coat with roaning, implying full color and all white hairs. The lykoi phenotype is a form of hypotrichia, presenting as a significant reduction in the average numbers of follicles per hair follicle group as compared to domestic shorthair cats, a mild to severe perifollicular to mural lymphocytic infiltration in 77% of observed hair follicle groups, and the follicles are often miniaturized, dilated, and dysplastic. Whole genome sequencing was conducted on a single lykoi cat that was a cross between two independently ascertained lineages. Comparison to the 99 Lives dataset of 194 non-lykoi cats suggested two variants in the cat homolog for Hairless (HR) (HR lysine demethylase and nuclear receptor corepressor) as candidate causal gene variants. The lykoi cat was a compound heterozygote for two loss of function variants in HR, an exon 3 c.1255_1256dupGT (chrB1:36040783), which should produce a stop codon at amino acid 420 (p.Gln420Serfs*100) and, an exon 18 c.3389insGACA (chrB1:36051555), which should produce a stop codon at amino acid position 1130 (p.Ser1130Argfs*29). Ascertainment of 14 additional cats from founder lineages from Canada, France and different areas of the USA identified four additional loss of function HR variants likely causing the highly similar phenotypic hair coat across the diverse cats. The novel variants in HR for cat hypotrichia can now be established between minor differences in the phenotypic presentations.

6. Golden cats: The story goes on [2022]

  • Abitbol, Marie, Dargar, Tanushri, and Gache, Vincent
  • Animal Genetics. August, 2022, Vol. 53 Issue 4, p543, 3 p.

7. Donskoy cats as a new model of oculocutaneous albinism with the identification of a splice-site variant in Hermansky-Pudlak Syndrome 5 gene [2020]

  • Meriot, Marina, Hitte, Christophe, Rimbault, Maud, Dufaure de Citres, Caroline, Gache, Vincent, and Abitbol, Marie
  • Pigment Cell & Melanoma Research. Nov 2020, Vol. 33 Issue 6, p814, 12 p.

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9. Feline chimerism revealed by DNA profiling [2020]

  • Jaraud, Ambre, Bossé, Philippe, Dufaure de Citres, Caroline, Tiret, Laurent, Gache, Vincent, and Abitbol, Marie
  • Animal genetics. 51(4):631-633

10. Génétique: l'outil de la médecine préventive féline [2018]

  • Abitbol, Marie
  • Ethnozootechnie. 104:21-26

11. Cani-DNA, un CRB qui a du chien ! Réseau de collecte de prélèvements de chiens par les vétérinaires pour la recherche biomédicale et la diversité génétique [2022]

  • ANDRÉ, Catherine, Anne, BOTHEREL, Nadine, CADIEU, Edouard, LAGOUTTE, Laetitia, HEDAN, Benoît, GARAND, Annabelle, ABADIE, Jérome, TIRET, Laurent, ABITBOL, Marie, LAVOUÉ, Rachel, QUENEY, Guillaume, CHAUDIEU, Gilles, and GUYON, Richard

12. Cataracts in a population of Bengal cats in France [2018]

  • Bourguet, AurA@lie, Chaudieu, Gilles, Briatta, Alice, Guyonnet, Alexandre, Abitbol, Marie, and Chahory, Sabine
  • Veterinary Ophthalmology. Jan, 2018, Vol. 21 Issue 1, p10, 9 p.

13. Haplosufficiency of PAX3 for melanoma development in Tyr:NRASQ61K; Cdkn2a−/− mice allows identification and sorting of melanoma cells using a Pax3GFP reporter allele [2016]

  • Campagne, Cécile, Reyes-Gomez, Edouard, Loiodice, Sophia, Gadin, Stéphanie, Ezagal, Jacky, Bernex, Florence, Abitbol, Marie, Louise, Anne, Beermann, Friedrich, Panthier, Jean-Jacques, Aubin-Houzelstein, Geneviève, and Egidy, Giorgia
  • Melanoma research. 26(1):12-20

14. Allelic heterogeneity of albinism in the domestic cat [2017]

  • Abitbol, Marie, Bossé, Philippe, Grimard, Bénédicte, Martignat, Lionel, and Tiret, Laurent
  • Animal Genetics. Feb 01, 2017 48(1):127-128

15. Prospective echocardiographic and tissue Doppler screening of a large Sphynx cat population: Reference ranges, heart disease prevalence and genetic aspects [2012]

  • Chetboul, Valerie, Petit, Amandine, Gouni, Vassiliki, Trehiou-Sechi, Emilie, Misbach, Charlotte, Balouka, David, Carlos Sampedrano, Carolina, Pouchelon, Jean-Louis, Tissier, Renaud, and Abitbol, Marie
  • In Journal of Veterinary Cardiology December 2012 14(4):497-509

16. Mining the 99 Lives Cat Genome Sequencing Consortium database implicates genes and variants for the Ticked locus in domestic cats ( Felis catus ) [2021]

  • Lyons, L., Buckley, R., Harvey, R., Abitbol, Marie, Aberdein, Danielle, Alves, Paulo, Ohlsson Andersson, Asa, Bellone, Rebecca, Bergström, Tomas, Bilgen, Nuket, Boyko, Adam, Brockman, Jeffrey, Casal, Margret, Castelhano, Marta, Davis, Brian, Davison, Lucy, Distl, Ottmar, Dodman, Nicholas, Ellinwood, N. Matthew, Fogle, Jonathan, Forman, Oliver, Garrick, Dorian, Ginns, Edward, Häggström, Jens, Hasegawa, Daisuke, Haase, Bianca, Jagannathan, Vidhya, Lait, Philippa, Hernandez, Isabel, Hytönen, Marjo, Kaukonen, Maria, Kosho, Tomoki, Leclerc, Emilie, Lear, Teri, Leeb, Tosso, Li, Ronald H.L., Lohi, Hannes, Longeri, Maria, Magnuson, Mark, Malik, Richard, Mane, Shrinivasrao, Middleton, Rondo, Munday, John, Murphy, William, Myers, Alexandra, Pedersen, Niels, Peterson‐Jones, Simon, Rothschild, Max, Rusbridge, Clare, Schoenebeck, Jeffrey, Shapiro, Beth, Stern, Joshua, Swanson, William, Terio, Karen, Todhunter, Rory, Warren, Wesley, Wilcox, Elizabeth, Wildschutte, Julia, Yu, Yoshihiko, VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS), Institut NeuroMyoGène (INMG), Université Claude Bernard Lyon 1 (UCBL), and Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)
  • Animal Genetics
    Animal Genetics, Wiley-Blackwell, 2021, 52 (3), pp.321-332. ⟨10.1111/age.13059⟩
Subjects
[SDV.GEN]Life Sciences [q-bio]/Genetics, ComputingMilieux_MISCELLANEOUS, Full Paper, Full Papers, Abyssinian, coat pattern, Dickkopf Wnt Signaling Pathway Inhibitor 4, DKK4, Tabby, Genetics, Animal Science and Zoology, General Medicine, Chromosome, Gene, Reference genome, Biology, Candidate gene, Locus (genetics), DNA sequencing, Genome, and Allele
Abstract
Summary Tabby patterns of fur coats are defining characteristics in wild and domestic felids. Historically, three autosomal alleles at one locus (Tabby): Abyssinian (Ta; a.k.a. ticked), mackerel (Tm; a.k.a. striped) and blotched (tb; a.k.a. classic, blotched) were thought to control these patterns in domestic cats and their breeds. Currently, at least three loci influence cat tabby markings, two of which are designated Tabby and Ticked. The Tabby locus is laeverin (LVRN) and affects the mackerel and blotched patterns. The unidentified gene for the Ticked locus on cat chromosome B1 was suggested to control the presence or absence of the ticked pattern (Tabby – Abyssinian (Ta; a.k.a. ticked). The cat reference genome (Cinnamon, the Abyssinian) has the ticked phenotype and the variant dataset and coat phenotypes from the 99 Lives Cat Genome Consortium (195 cats) were used to identify candidate genes and variants associated with the Ticked locus. Two strategies were used to find the Ticked allele(s), one considered Cinnamon with the reference allele or heterozygous (Strategy A) and the other considered Cinnamon as having the variant allele or heterozygous (Strategy B). For Strategy A, two variants in Dickkopf Wnt Signaling Pathway Inhibitor 4 (DKK4), a p.Cys63Tyr (B1:41621481, c.188G>A) and a less common p.Ala18Val (B1:42620835, c.53C>T) variant are suggested as two alleles influencing the Ticked phenotype. Bioinformatic and molecular modeling analysis suggests that these changes disrupt a key disulfide bond in the Dkk4 cysteine‐rich domain 1 or Dkk4 signal peptide cleavage respectively. All coding variants were excluded as Ticked alleles using Strategy B.

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18. GÉNÉTIQUE DE LA COULEUR ET DE LA TEXTURE DU PELAGE CHEZ LE CHAT DOMESTIQUE / GENETICS OF COAT COLOUR AND TEXTURE IN DOMESTIC CATS [2012]

  • ABITBOL, Marie
  • Bulletin de l'Académie vétérinaire de France. 165(3):205-213
Subjects
Microbiology, infectious diseases, Microbiologie, maladies infectieuses, Animal sciences, zootechny, veterinary medicine, Sciences animales, zootechnie, médecine vétérinaire, Sciences biologiques et medicales, Biological and medical sciences, Sciences biologiques fondamentales et appliquees. Psychologie, Fundamental and applied biological sciences. Psychology, Genetique des eucaryotes. Evolution biologique et moleculaire, Genetics of eukaryotes. Biological and molecular evolution, Génétique classique, génétique quantitative, hybrides, Classical genetics, quantitative genetics, hybrids, Animaux, Animals, Vertebrata, Carnivora, Fissipedia, Mammalia, Vertebrata, Chat, Cat, Gato, Déterminisme génétique, Genetic determinism, Determinismo genético, Felis catus, Pigmentation, Pigmentación, Poil, Hair, Pelo, Vétérinaire, Veterinary, Veterinario, ADN, chat, couleur, félin, génétique, pelage, and poil
Abstract
Depuis l'avènement de la génomique canine et féline, un nombre croissant de locus, de gènes et de mutations a été identifié chez ces deux espèces. Si la génétique canine a rapidement profité de ces nouveaux outils méthodologiques et moléculaires, la génétique féline rattrape progressivement son retard. Le séquençage complet du génome d'un chat Abyssin, en 2007, a permis des progrès considérables. Une quarantaine de gènes impliqués dans des maladies héréditaires et des caractères d'intérêt félins ont été identifiés à ce jour. Parmi les caractères d'intérêt élucidés à l'échelle moléculaire, les couleurs et les textures du pelage sont prépondérantes. Ainsi, des tests génétiques de dépistage de ces couleurs et de ces textures permettent désormais aux éleveurs de choisir leurs reproducteurs et de réaliser les accouplements de façon à obtenir les chatons désirés.

19. LA CÉROÏDE-LIPOFUSCINOSE DE L'AMERICAN STAFFORDSHIRE TERRIER / NEURONAL CEROID LIPOFUSCINOSIS IN AMERICAN STAFFORDSHIRE TERRIERS [2011]

  • ABITBOL, Marie
  • Bulletin de l'Académie vétérinaire de France. 164(2):113-118
Subjects
Microbiology, infectious diseases, Microbiologie, maladies infectieuses, Animal sciences, zootechny, veterinary medicine, Sciences animales, zootechnie, médecine vétérinaire, Sciences biologiques et medicales, Biological and medical sciences, Sciences biologiques fondamentales et appliquees. Psychologie, Fundamental and applied biological sciences. Psychology, Microbiologie, Microbiology, Carnivora, Enzymopathie, Enzymopathy, Enzimopatía, Fissipedia, Lipoïdose, Lipoidosis, Maladie héréditaire, Genetic disease, Enfermedad hereditaria, Maladie métabolique, Metabolic diseases, Metabolismo patología, Mammalia, Pathologie de l'encéphale, Cerebral disorder, Encéfalo patología, Pathologie du système nerveux central, Central nervous system disease, Sistema nervosio central patología, Pathologie du système nerveux, Nervous system diseases, Sistema nervioso patología, Trouble neurologique, Neurological disorder, Trastorno neurológico, Vertebrata, Ataxie, Ataxia, Chien, Dog, Perro, Céroïde lipofuscinose neuronale, Neuronal ceroid lipofuscinosis, Ceroide lipofuscinoso neuronal, Lipide, Lipids, Lípido, Lipofuscinose, Lipofuscinosis, Neurone, Neuron, Neurona, Pigment, Pigments, Pigmento, Sphingolipidose héréditaire de Spielmeyer-Vogt, Spielmeyer-Vogt disease, Esfingolipidosis hereditaria Spielmeyer-Vogt, Vétérinaire, Veterinary, Veterinario, ADN, ataxie, cervelet, chien, céroïde-lipofuscinose, héréditaire, and neurone
Abstract
Les céroïdes-lipofuscinoses neuronales (CLNs) humaines constituent un groupe d'encéphalopathies progressives et héréditaires caractérisées par une perte progressive de la vue, une dégradation des fonctions motrices et mentales, des crises épileptiformes et un décès prématuré. Les chiens de race American Staffordshire Terrier (AST) présentent une forme adulte et autosomique récessive de CLN qui se traduit par une ataxie statique et dynamique incurable, nécessitant l'euthanasie de l'animal à un stade avancé de la maladie. Grâce à une étude d'association et de liaison menée chez un grand nombre d'AST, une mutation dans le gène de l'arylsulfatase G a été découverte chez les chiens atteints. Elle provoque le remplacement d'un acide aminé dans la protéine et conduit à une baisse d'activité de l'activité arylsulfatase de 75% dans les leucocytes des chiens atteints. Ces travaux ont permis de mettre en place un test de dépistage de la maladie chez l'AST, de révéler l'importance de l'arylsulfatase G dans l'homéostasie neuronale et d'identifier une famille de gènes candidats pour les formes adultes de CLN humaines.

20. Protoporphyrin Retention in Hepatocytes and Kupffer Cells Prevents Sclerosing Cholangitis in Erythropoietic Protoporphyria Mouse Model [2011]

  • Lyoumi, Saïd, Abitbol, Marie, Rainteau, Dominique, Karim, Zoubida, Bernex, Florence, Oustric, Vincent, Millot, Sarah, Lettéron, Philippe, Heming, Nicholas, Guillmot, Laurent, Montagutelli, Xavier, Berdeaux, Gilles, Gouya, Laurent, Poupon, Raoul, Deybach, Jean–Charles, Beaumont, Carole, and Puy, Hervé
  • In Gastroenterology 2011 141(4):1509-1519

21. Increased plasma transferrin, altered body iron distribution, and microcytic hypochromic anemia in ferrochelatase -deficient mice [2007]

  • LYOUMI, Saïd, ABITBOL, Marie, BEAUMONT, Carole, PUY, Hervé, ANDRIEU, Valérie, HENIN, Dominique, ROBERT, Elodie, SCHMITT, Caroline, GOUYA, Laurent, DE VERNEUIL, Hubert, DEVBACH, Jean-Charles, and MONTAAUTELLI, Xavier
  • Blood. 109(2):811-818
Subjects
Medical oncology, Cancérologie, Hematology, Hématologie, Sciences biologiques et medicales, Biological and medical sciences, Sciences medicales, Medical sciences, Hemopathies, Hematologic and hematopoietic diseases, Enzyme, Enzima, Lyases, Mammalia, Rodentia, Vertebrata, Animal, Distribution, Distribución, Fer, Iron, Hierro, Ferrochelatase, Hématologie, Hematology, Hematología, Plasma sanguin, Blood plasma, Plasma sanguíneo, Souris, Mouse, Ratón, Transferrine, Transferrin, Transferrina, Anémie microcytaire, and Microcytic anemia
Abstract
Patients with deficiency in ferrochelatase (FECH), the last enzyme of the heme biosynthetic pathway, experience a painful type of skin photosensitivity called erythropoietic protoporphyria (EPP), which is caused by the excessive production of protoporphyrin IX (PPIX) by erythrocytes. Controversial results have been reported regarding hematologic status and iron status of patients with EPP. We thoroughly explored these parameters in Fechm1Pas mutant mice of 3 different genetic backgrounds. FECH deficiency induced microcytic hypochromic anemia without ringed sideroblasts, little or no hemolysis, and no erythroid hyperplasia. Serum iron, ferritin, hepcidin mRNA, and Dcytb levels were normal. The homozygous Fechmm1Pas mutant involved no tissue iron deficiency but showed a clear-cut redistribution of iron stores from peripheral tissues to the spleen, with a concomitant 2- to 3-fold increase in transferrin expression at the mRNA and the protein levels. Erythrocyte PPIX levels strongly correlated with serum transferrin levels. At all stages of differentiation in our study, transferrin receptor expression in bone marrow erythroid cells in Fechm1Pas was normal in mutant mice but not in patients with iron-deficiency anemia. Based on these observations, we suggest that oral iron therapy is not the therapy of choice for patients with EPP and that the PPIX-liver transferrin pathway plays a role in the orchestration of iron distribution between peripheral iron stores, the spleen, and the bone marrow.

22. Increased mitochondrial respiratory chain enzyme activities correlate with minor extent of liver damage in mice suffering from erythropoietic protoporphyria [2005]

  • NAVARRO, Susana, DEL HOYO, Pilar, GARESSE, Rafael, ARENAS, Joaquin, DE SALAMANCA, Rafael Enriquez, FONTANELLAS, Antonio, CAMPOS, Yolanda, ABITBOL, Marie, MORAN-JIMENEZ, Maria-José, GARCIA-BRAVO, Maria, OCHOA, Pilar, GRAU, Montserrat, MONTAGUTELLI, Xavier, and FRANK, Jorge
  • Experimental dermatology. 14(1):26-33
Subjects
Dermatology, Dermatologie, Sciences biologiques et medicales, Biological and medical sciences, Sciences medicales, Medical sciences, Dermatologie, Dermatology, Dermatoses diverses. Peau et pathologie générale. Généralités, Skin involvement in other diseases. Miscellaneous. General aspects, Maladies metaboliques, Metabolic diseases, Autres maladies métaboliques, Other metabolic disorders, Pigments (porphyries, hyperbilirubinémies...), Pigments (porphyrias, hyperbilirubinemias...), Appareil digestif pathologie, Digestive diseases, Aparato digestivo patología, Enzyme, Enzima, Enzymopathie, Enzymopathy, Enzimopatía, Maladie héréditaire, Genetic disease, Enfermedad hereditaria, Mammalia, Métabolisme pathologie, Metabolic diseases, Metabolismo patología, Oxidoreductases, Peau pathologie, Skin disease, Piel patología, Photosensibilité, Photosensitivity, Fotosensibilidad, Porphyrine dérivé, Porphyrin derivatives, Porfirina derivada, Rodentia, Vertebrata, ATP, Activité enzymatique, Enzymatic activity, Actividad enzimática, Animal, Chaîne respiratoire, Respiratory chain, Cadena respiratoria, Cytochrome-c oxidase, Dermatologie, Dermatology, Dermatología, Foie pathologie, Hepatic disease, Hígado patología, Mitochondrie, Mitochondria, Mitocondria, Modèle animal, Animal model, Modelo animal, Pigment, Pigments, Pigmento, Porphyrie, Porphyria, Porfiria, Protoporphyrie érythropoïétique, Erythropoietic protoporphyria, Protoporfiria eritropoyética, Protoporphyrine, Protoporphyrin, Protoporfirina, Souris, Mouse, Ratón, adenosine 5'-triphosphate, cytochrome c oxidase, hepatic porphyria, mitochondrial respiratory chain, murine model, and protoporphyria
Abstract
Mitochondrial dysfunction might play a role in the pathogenesis of liver damage in erythropoietic protoporphyria (EPP). Changes in mitochondrial respiratory chain activities were evaluated in the Fechm1pas/Fechm1pas mouse model for EPP. Mice from different strains congenic for the same ferrochelatase germline mutation manifest variable degrees of hepatobiliary injury. Protoporphyric animals bred into the C57BL/6J background showed a higher degree of hepatomegaly and liver damage as well as higher protoporphyrin (PP) accumulation than those bred into the SJL/J and BALB/cJ backgrounds. Whereas mitochondrial respiratory chain activities remained unchanged in the liver of protoporphyric mice C57BL/ 6J, they were increased in protoporphyric mice from both SJL/J and BALB/cJ backgrounds, when compared to wild-type animals. Mitochondrial respiratory chain activities were increased in Hep G2 cell line after accumulation of PP following addition of aminolevulinic acid. As a direct effect of these elevated mitochondrial activities, in both hepatic cells from mutant mouse strains and Hep G2 cells, adenosine 5'-triphosphate (ATP) levels significantly increased as the intracellular PP concentration was reduced. These results indicate that PP modifies intracellular ATP requirements as well as hepatic mitochondrial respiratory chain enzymatic activities and further suggest that an increase of these activities may provide a certain degree of protection against liver damage in protoporphyric mice.

23. A mouse model provides evidence that genetic background modulates anemia and liver injury in erythropoietic protoporphyria [2005]

  • ABITBOL, Marie, BERNEX, Florence, PUY, Hervé, JOUAULT, Hélène, DEYBACH, Jean-Charles, GUENET, Jean-Louis, and MONTAGUTELLI, Xavier
  • American journal of physiology. Gastrointestinal and liver physiology. 51(6):G1208-G1216
Subjects
Gastroenterology, Gastroentérologie, Physiology, morphology, Physiologie, morphologie, Sciences biologiques et medicales, Biological and medical sciences, Sciences biologiques fondamentales et appliquees. Psychologie, Fundamental and applied biological sciences. Psychology, Vertebres: systeme digestif, Vertebrates: digestive system, Sciences medicales, Medical sciences, Hemopathies, Hematologic and hematopoietic diseases, Maladies des hématies, Diseases of red blood cells, Anémies. Hémoglobinopathies, Anemias. Hemoglobinopathies, Maladies metaboliques, Metabolic diseases, Autres maladies métaboliques, Other metabolic disorders, Pigments (porphyries, hyperbilirubinémies...), Pigments (porphyrias, hyperbilirubinemias...), Appareil digestif pathologie, Digestive diseases, Aparato digestivo patología, Enzyme, Enzima, Enzymopathie, Enzymopathy, Enzimopatía, Foie pathologie, Hepatic disease, Hígado patología, Hémopathie, Hemopathy, Hemopatía, Lyases, Maladie héréditaire, Genetic disease, Enfermedad hereditaria, Métabolisme pathologie, Metabolic diseases, Metabolismo patología, Peau pathologie, Skin disease, Piel patología, Photosensibilité, Photosensitivity, Fotosensibilidad, Rodentia, Vertebrata, Anémie, Anemia, Appareil digestif, Digestive system, Aparato digestivo, Bilirubine, Bilirubin, Bilirrubina, Chronique, Chronic, Crónico, Ferrochelatase, Génétique, Genetics, Genética, Hépatite, Hepatitis, Lésion, Lesion, Lesión, Mammalia, Modèle animal, Animal model, Modelo animal, Pigment, Pigments, Pigmento, Protoporphyrie érythropoïétique, Erythropoietic protoporphyria, Protoporfiria eritropoyética, Protoporphyrine, Protoporphyrin, Protoporfirina, Souris, Mouse, Ratón, bilirubin, chronic hepatitis, congenic strains, ferrochelatase, and protoporphyrin
Abstract
Erythropoietic protoporphyria is an inherited disorder of heme biosynthesis caused by partial ferrochelatase deficiency, resulting in protoporphyrin (PP) overproduction by erythrocytes. In humans, it is responsible for painful skin photosensitivity and, occasionally, liver failure due to accumulation of PP in the liver. The ferrochelatase deficiency mouse mutation is the best animal model available for human erythropoietic protoporphyria. The original description, based on mice with a BALB/cByJCrl genetic background, reported a disease resembling the severe form of the human disease, with anemia, jaundice, and liver failure. Using congenic strains, we investigated the effect of genetic background on the severity of the phenotype. Compared with BALB/cByJCrl, C57BL/6JCrl mice developed moderate but increasing anemia and intense liver accumulation of PP with severe hepatocyte damage and loss. Bile excretory function was not affected, and bilirubin remained low. Despite the highest PP concentration in erythrocytes, anemia was mild and there were few PP deposits in the liver in SJL/JOrlCrl homozygotes. Discriminant analysis using six hematologic and biochemical parameters showed that homozygotes of the three genetic backgrounds could be clustered in three well-separated groups. These three congenic strains provide strong evidence for independent genetic control of bone marrow contribution of PP overproduction to development of liver disease and biliary PP excretion. They provide a tool to investigate the physiological mechanisms involved in these phenotypic differences and to identify modifying genes.

24. Utilisation des lignées congéniques chez la souris / Applications of congenic strains in the mouse [2004]

  • MONTAGUTELLI, Xavier and ABITBOL, Marie
  • MS. Médecine sciences. 20(10):887-893
Subjects
General medicine general surgery, Médecine et chirurgie générales, Sciences biologiques et medicales, Biological and medical sciences, Sciences biologiques fondamentales et appliquees. Psychologie, Fundamental and applied biological sciences. Psychology, Biologie moleculaire et cellulaire, Molecular and cellular biology, Génétique moléculaire, Molecular genetics, Gènes. Génome, Genes. Genome, Mammalia, Rodentia, Vertebrata, Congénique, Congenic, Congénico, Lignée sélection, Breeding line, Línea selección, Marqueur génétique, Genetic marker, Marcador genético, Modèle animal, Animal model, Modelo animal, Mutation, Mutación, Souris, Mouse, and Ratón
Abstract
Le séquençage du génome de l'homme et de la souris a montré que le patrimoine génétique de ces deux espèces comporte environ 30 000 gènes. Les phénomènes biologiques que l'on peut étudier dans un organisme ou un tissu résultent d'interactions complexes au sein de cette multitude de gènes. Avant de décrire ces interactions, il faut pouvoir comprendre la fonction de chaque gène. Chez la souris, les lignées congéniques permettent d'introduire un segment chromosomique dans un fonds génétique consanguin déterminé. On peut alors comparer les effets de différents allèles d'un même locus dans un fonds génétique identique ou l'effet d'un même allèle dans différents fonds génétiques. On peut également isoler dans des lignées congéniques différentes possédant le même fonds génétique les gènes contrôlant un caractère génétique complexe, puis combiner ces gènes par des croisements pour en étudier les interactions. Si le segment transféré dans une lignée congénique contient généralement plusieurs centaines de gènes, l'utilisation de marqueurs génétiques permet de réduire ce nombre, ainsi que le nombre de croisements nécessaire.

25. Les tests génétiques chez le chien [2010]

  • Abitbol, Marie, André, Catherine, Queney, Guillaume, and Chaudieu, Gilles
  • In Revue Francophone des Laboratoires 2010 2010(420):69-82

26. Prevalence of the MYBPC3-A31P mutation in a large European feline population and association with hypertrophic cardiomyopathy in the Maine Coon breed [2010]

  • Mary, Jérôme, Chetboul, Valérie, Sampedrano, Carolina Carlos, Abitbol, Marie, Gouni, Vassiliki, Trehiou-Sechi, Emilie, Tissier, Renaud, Queney, Guillaume, Pouchelon, Jean-Louis, and Thomas, Anne
  • In Journal of Veterinary Cardiology 2010 12(3):155-161

27. A missense mutation in the agouti signaling protein gene (ASIP) is associated with the no light points coat phenotype in donkeys [2015]

  • Abitbol, Marie, Legrand, Romain, and Tiret, Laurent
  • Genetics Selection Evolution (47), 1-4. (2015).
Abstract
BACKGROUND:Seven donkey breeds are recognized by the French studbook and are characterized by a black, bay or grey coat colour including light cream-to-white points (LP). Occasionally, Normand bay donkeys give birth to dark foals that lack LP and display the no light points (NLP) pattern. This pattern is more frequent and officially recognized in American miniature donkeys. The LP (or pangare) phenotype resembles that of the light bellied agouti pattern in mouse, while the NLP pattern resembles that of the mammalian recessive black phenotype; both phenotypes are associated with the agouti signaling protein gene (ASIP).FINDINGS:We used a panel of 127 donkeys to identify a recessive missense c.349 T > C variant in ASIP that was shown to be in complete association with the NLP phenotype. This variant results in a cysteine to arginine substitution at position 117 in the ASIP protein. This cysteine is highly-conserved among vertebrate ASIP proteins and was previously shown by mutagenesis experiments to lie within a functional site. Altogether, our results strongly support that the identified mutation is causative of the NLP phenotype.CONCLUSIONS:Thus, we propose to name the c.[349 T > C] allele in donkeys, the a(nlp) allele, which enlarges the panel of coat colour alleles in donkeys and ASIP recessive loss-of-function alleles in animals.

28. A COLQ missense mutation in Sphynx and Devon Rex Cats with congenital myasthenic syndrome [2015]

  • Abitbol, Marie, Hitte, Christophe, Bossé, Philippe, Blanchard Gutton, Nicolas, Thomas, Anne, Martignat, Lionel, Blot, Stéphane, and Tiret, Laurent
  • Plos One 9 (10), e0137019. (2015).
Subjects
Life Sciences and Sciences du Vivant
Abstract
An autosomal recessive neuromuscular disorder characterized by skeletal muscle weakness, fatigability and variable electromyographic or muscular histopathological features has been described in the two related Sphynx and Devon Rex cat breeds (Felis catus). Collection of data from two affected Sphynx cats and their relatives pointed out a single disease candidate region on feline chromosome C2, identified following a genome-wide SNP-based homozygosity mapping strategy. In that region, we further identified COLQ (collagen-like tail subunit of asymmetric acetylcholinesterase) as a good candidate gene, since COLQ mutations were identified in affected humans and dogs with endplate acetylcholinesterase deficiency leading to a synaptic form of congenital myasthenic syndrome (CMS). A homozygous c.1190G\textgreaterA missense variant located in exon 15 of COLQ, leading to a C397Y substitution, was identified in the two affected cats. C397 is a highly-conserved residue from the C-terminal domain of the protein; its mutation was previously shown to produce CMS in humans, and here we confirmed in an affected Sphynx cat that it induces a loss of acetylcholinesterase clustering at the neuromuscular junction. Segregation of the c.1190G\textgreaterA variant was 100% consistent with the autosomal recessive mode of inheritance of the disorder in our cat pedigree; in addition, an affected, unrelated Devon Rex cat recruited thereafter was also homozygous for the variant. Genotyping of a panel of 333 cats from 14 breeds failed to identify a single carrier in non-Sphynx and non-Devon Rex cats. Finally, the percentage of healthy carriers in a European subpanel of 81 genotyped Sphynx cats was estimated to be low (3.7%) and 14 control Devon Rex cats were genotyped as wild-type individuals. Altogether, these results strongly support that the neuromuscular disorder reported in Sphynx and Devon Rex breeds is a CMS caused by a unique c.1190G\textgreaterA missense mutation, presumably transmitted through a founder effect, which strictly and slightly disseminated in these two breeds. The presently available DNA test will help owners avoid matings at risk.

29. A canine Arylsulfatase G (ARSG) mutation leading to a sulfatase deficiency is associated with neuronal ceroid lipofuscinosis [2015]

  • Abitbol, Marie, Thibaud, Jean-Laurent, Olby, Natasha J., Hitte, Christophe, Puech, Jean-Philippe, Maurer, Marie, Pilot-Storck, Fanny, Hédan, Benoit, Dréano, Stéphane, Brahimi, Sandra, Delattre, Delphine, André, Catherine, Gray, Françoise, Delisle, Françoise, Caillaud, Catherine, Bernex, Florence, Panthier, Jean-Jacques, Aubin-Houzelstein, Geneviève, Blot, Stéphane, and Tiret, Laurent
Subjects
American Staffordshire Terrier, pedigree, dogs, vision, death, genes, leukocytes, active sites, mutation, homeostasis, arylsulfatase, children, pathogenesis, loci, haplotypes, exons, patients, seizures, adults, and genetic heterogeneity

30. canine Arylsulfatase G (ARSG) mutation leading to a sulfatase deficiency is associated with neuronal ceroid lipofuscinosis [2010]

  • Abitbol, Marie, Thibaud, Jean-Laurent, Olby, Natasha J., Hitte, Christophe, Puech, Jean-Philippe, Maurer, Marie, Pilot-Storck, Fanny, Hédan, Benoit, Dréano, Stéphane, Brahimi, Sandra, Delattre, Delphine, André, Catherine, Gray, Françoise, Delisle, Françoise, Caillaud, Catherine, Bernex, Florence, Panthier, Jean-Jacques, Aubin-Houzelstein, Geneviève, Blot, Stéphane, and Tiret, Laurent
  • Proceedings of the National Academy of Sciences of the United States of America, 2010 Aug. 17, v. 107, no. 33, p. 14775-14780.
Abstract
Includes references
Neuronal ceroid lipofuscinoses (NCLs) represent the most common group of inherited progressive encephalopathies in children. They are characterized by progressive loss of vision, mental and motor deterioration, epileptic seizures, and premature death. Rare adult forms of NCL with late onset are known as Kufs' disease. Loci underlying these adult forms remain unknown due to the small number of patients and genetic heterogeneity. Here we confirm that a late-onset form of NCL recessively segregates in US and French pedigrees of American Staffordshire Terrier (AST) dogs. Through combined association, linkage, and haplotype analyses, we mapped the disease locus to a single region of canine chromosome 9. We eventually identified a worldwide breed-specific variant in exon 2 of the Arylsulfatase G (ARSG) gene, which causes a p.R99H substitution in the vicinity of the catalytic domain of the enzyme. In transfected cells or leukocytes from affected dogs, the missense change leads to a 75% decrease in sulfatase activity, providing a functional confirmation that the variant might be the NCL-causing mutation. Our results uncover a protein involved in neuronal homeostasis, identify a family of candidate genes to be screened in patients with Kufs' disease, and suggest that a deficiency in sulfatase is part of the NCL pathogenesis.

31. Supplementary Material [2020]

  • Hamelin, Alexia, Conchou, Fabrice, Fusellier, Marion, Duchenij, Bettina, Vieira, Isabelle, Filhol, Emilie, Citres, Caroline Dufaure De, Tiret, Laurent, Gache, Vincent, and Abitbol, Marie
Subjects
70706 Veterinary Medicine and FOS: Veterinary sciences
Abstract
Custom microsatellite marker panel

32. A canine Arylsulfatase G (ARSG) mutation leading to a sulfatase deficiency is associated with neuronal ceroid lipofuscinosis [2010]

  • Abitbol, Marie, Thibaud, Jean-Laurent, Olby, Natasha J., Hitte, Christophe, Puech, Jean-Philippe, Maurer, Marie, Pilot-Storck, Fanny, Hédan, Benoit, Dréano, Stéphane, Brahimi, Sandra, Delattre, Delphine, André, Catherine, Gray, Françoise, Delisle, Françoise, Caillaud, Catherine, Bernex, Florence, Panthier, Jean-Jacques, Aubin-Houzelstein, Geneviève, Blot, Stéphane, Tiret, Laurent, and Rine, Jasper
  • Proceedings of the National Academy of Sciences of the United States of America, 2010 Aug . 107(33), 14775-14780.

33. Copal, a new MC1R allele in the domestic cat [2019]

  • Abitbol, Marie and Gache, Vincent
  • Animal genetics. 50(5):553-554

34. Two recessive mutations in FGF5 are associated with the long-hair phenotype in donkeys [2014]

  • Legrand, Romain, Tiret, Laurent, and Abitbol, Marie
  • Genetics Selection Evolution 65 (46), 1-7. (2014).
Subjects
GENOME SEQUENCE, MESSENGER-RNA, GROWTH CYCLE, GENE, EVOLUTION, ENCODES, BIOLOGY, SERVER, HORSE, and CATS
Abstract
Background: Seven donkey breeds are recognized by the French studbook. Individuals from the Pyrenean, Provence, Berry Black, Normand, Cotentin and Bourbonnais breeds are characterized by a short coat, while those from the Poitou breed (Baudet du Poitou) are characterized by a long-hair phenotype. We hypothesized that loss-of-function mutations in the FGF5 (fibroblast growth factor 5) gene, which are associated with a long-hair phenotype in several mammalian species, may account for the special coat feature of Poitou donkeys. To the best of our knowledge, mutations in FGF5 have never been described in Equidae. Methods: We sequenced the FGF5 gene from 35 long-haired Poitou donkeys, as well as from a panel of 67 short-haired donkeys from the six other French breeds and 131 short-haired ponies and horses. Results: We identified a recessive c.433_434delAT frameshift deletion in FGF5, present in Poitou and three other donkey breeds and a recessive nonsense c.245G > A substitution, present in Poitou and four other donkey breeds. The frameshift deletion was associated with the long-hair phenotype in Poitou donkeys when present in two copies (n = 31) or combined with the nonsense mutation (n = 4). The frameshift deletion led to a stop codon at position 159 whereas the nonsense mutation led to a stop codon at position 82 in the FGF5 protein. In silico, the two truncated FGF5 proteins were predicted to lack the critical beta strands involved in the interaction between FGF5 and its receptor, a mandatory step to inhibit hair growth. Conclusions: Our results highlight the allelic heterogeneity of the long-hair phenotype in donkeys and enlarge the panel of recessive FGF5 loss-of-function alleles described in mammals. Thanks to the DNA test developed in this study, breeders of non-Poitou breeds will have the opportunity to identify long-hair carriers in their breeding stocks.

35. A missense mutation in melanocortin 1 receptor is associated with the red coat colour in donkeys [2014]

  • Abitbol, Marie, Legrand, Roger, and Tiret, Laurent
  • Animal Genetics 6 (45), 878-880. (2014).
Subjects
chestnut, melanocortin 1 receptor, melanocyte, miniature donkey, and Normand donkey
Abstract
The seven donkey breeds recognised by the French studbook are characterised by few coat colours: black, bay and grey. Normand bay donkeys seldom give birth to red foals, a colour more commonly seen and recognised in American miniature donkeys. Red resembles the equine chestnut colour, previously attributed to a mutation in the melanocortin 1 receptor gene (MC1R). We used a panel of 124 donkeys to identify a recessive missense c.629T>C variant in MC1R that showed a perfect association with the red coat colour. This variant leads to a methionine to threonine substitution at position 210 in the protein. We showed that methionine 210 is highly conserved among vertebrate melanocortin receptors. Previous in silico and in vitro analyses predicted this residue to lie within a functional site. Our in vivo results emphasised the pivotal role played by this residue, the alteration of which yielded a phenotype fully compatible with a loss of function of MC1R. We thus propose to name the c.629T>C allele in donkeys the e allele, which further enlarges the panel of recessive MC1R loss-of-function alleles described in animals and humans.

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37. Bilateral Polydactyly in a foal [2007]

  • Carstanjen, Bianca (Ecole Nationale Veterinaire d'Alfort, France), E-mail: carstanjen@t-online.de, Abitbol, Marie, and Desbois, Christophe
  • Journal of Veterinary Science, Jun 2007, v. 8(2) p. 201-203.
Subjects
congenital anomaly, polydactyly, Veterinary science and hygiene, HORSES, CHEVAL, and CABALLOS
Abstract
Summary(En)
6ill., 16 ref.
The following case report describes the diagnosis and surgery of bilateral polydactyly of unknown origin in a colt. A 7-month-old Berber colt was referred for cosmetic and curative excision of supernumerary digits. Radiographic examination revealed bilateral polydactyly and well-developed first carpal bones. Surgery consisted of an osteotomy of both second metacarpal bones combined with an amputation of the supernumerary digits. The follow-up at 18 months after surgery revealed a sound horse with an excellent cosmetic outcome.

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39. METHOD FOR DIAGNOSING AND PREDICTING CEREBELLAR ATAXIA [2011]

  • Abitbol, Marie and Blot, Stéphane
Abstract
The present invention relates to an in vitro method for diagnosing and/or predicting hereditary cerebellar ataxia in a dog, and/or identifying a dog which is healthy carrier of hereditary cerebellar ataxia, comprising determining the presence or absence of an homozygous or heterozygous genetic variation in the arylsulfatase G gene sequence in a biological sample from said dog, as compared with the arylsulfatase G gene sequence of a healthy non-carrier dog, wherein the presence of said homozygous genetic variation indicates that said dog is or will be affected by hereditary cerebellar ataxia, and the presence of said heterozygous genetic variation indicates that said dog is healthy carrier of hereditary cerebellar ataxia, said dog being of a breed selected in the group consisting of American Staffordshire Terrier, American Pit Bull Terrier and Pit Bull type.

40. GÉNOMIQUE FÉLINE, PROGRÈS RÉCENTS ET INTÉRÊTS EN RECHERCHE ET EN MÉDECINE VÉTÉRINAIRE. [2021]

  • ABITBOL, Marie
  • Bulletin de Academie Veterinaire de France; 2021, Vol. 174, p1-8, 8p
Abstract
Copyright of Bulletin de Academie Veterinaire de France is the property of Academie Veterinaire de France and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

41. A Deletion in FOXN1 Is Associated with a Syndrome Characterized by Congenital Hypotrichosis and Short Life Expectancy in Birman Cats [2015]

  • Abitbol, Marie and Bosse, Philippe
  • PLoS ONE. March 17, 2015, Vol. 10 Issue 3

42. Utilisation des lignées congéniques chez la souris [2004]

  • Montagutelli, Xavier and Abitbol, Marie
  • M/S : médecine sciences ; vol. 20 no. 10 (2004)

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44. Dépistage génétique [2013]

  • Abitbol, Marie, André, Catherine, Thomas, Anne, and VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)
  • Affections oculaires héréditaires ou à prédisposition raciale chez le chien
    Affections oculaires héréditaires ou à prédisposition raciale chez le chien, 2013
Subjects
[SDV]Life Sciences [q-bio], [SDV.BA]Life Sciences [q-bio]/Animal biology, [SDV.BA.MVSA]Life Sciences [q-bio]/Animal biology/Veterinary medicine and animal Health, and ComputingMilieux_MISCELLANEOUS
Abstract
International audience

45. Breeding strategies against genetic disorders in dog breeds [2010]

  • Leroy, Grégoire, Abitbol, Marie, Génétique Animale et Biologie Intégrative (GABI), Institut National de la Recherche Agronomique (INRA)-AgroParisTech, Génétique Moléculaire et Cellulaire (UGMC), École nationale vétérinaire d'Alfort (ENVA)-Institut National de la Recherche Agronomique (INRA), and AgroParisTech-Institut National de la Recherche Agronomique (INRA)
  • Abstracts book of the 9th World Congress on Genetics Applied to Livestock Production
    9. World Congress on Genetics Applied to Livestock Production
    9. World Congress on Genetics Applied to Livestock Production, Aug 2010, Leipzig, Germany
Subjects
genetic defects, dogs, breeds, diseases, genetic diversity, and [SDV]Life Sciences [q-bio]
Abstract
absent

46. Applications of congenic strains in the mouse [2004]

  • Montagutelli, Xavier, Abitbol, Marie, Génétique des Mammifères, and Institut Pasteur [Paris]
  • médecine/sciences
    médecine/sciences, EDP Sciences, 2004, 20 (10), pp.887-893. ⟨10.1051/medsci/20042010887⟩
Subjects
[SDV]Life Sciences [q-bio], [SDV.GEN]Life Sciences [q-bio]/Genetics, and [SDV.GEN.GA]Life Sciences [q-bio]/Genetics/Animal genetics
Abstract
International audience; The sequencing of the human and the mouse genomes has shown that the chromosomes of these two species contain approximately 30000 genes. The biological systems that can be studied in an individual or in a tissue result from complex interactions within this multitude of genes. Before describing these interactions, it is necessary to understand the function of each gene. In the mouse, congenic strains are developed to introduce a chromosomal segment in a given inbred genetic background. One can then compare the biological effects of different alleles at the same locus in the same genetic background or the effect of a given allele in different genetic backgrounds. One can also introduce into different congenic strains with the same genetic background genes which control a complex genetic trait, then combine these genes by appropriate crosses to study their interactions. Although the chromosomal segment transferred into a congenic strain usually contains up to several hundreds of genes, molecular markers can be used to reduce this number as well as the number of crosses required for the development of congenic strains.; Le séquençage du génome de l’homme et de la souris a montré que le patrimoine génétique de ces deux espèces comporte environ 30 000 gènes. Les phénomènes biologiques que l’on peut étudier dans un organisme ou un tissu résultent d’interactions complexes au sein de cette multitude de gènes. Avant de décrire ces interactions, il faut pouvoir comprendre la fonction de chaque gène. Chez la souris, les lignées congéniques permettent d’introduire un segment chromosomique dans un fonds génétique consanguin déterminé. On peut alors comparer les effets de différents allèles d’un même locus dans un fonds génétique identique ou l’effet d’un même allèle dans différents fonds génétiques. On peut également isoler dans des lignées congéniques différentes possédant le même fonds génétique les gènes contrôlant un caractère génétique complexe, puis combiner ces gènes par des croisements pour en étudier les interactions. Si le segment transféré dans une lignée congénique contient généralement plusieurs centaines de gènes, l’utilisation de marqueurs génétiques permet de réduire ce nombre, ainsi que le nombre de croisements nécessaire.

47. LE MOSAÏCISME CHEZ LES CARNIVORES DOMESTIQUES. [2017]

  • JARAUD-DARNAULT, Ambre and ABITBOL, Marie
  • Bulletin de Academie Veterinaire de France; 2017, Vol. 170 Issue 1, p70-76, 7p
Abstract
Copyright of Bulletin de Academie Veterinaire de France is the property of Academie Veterinaire de France and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

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56. A Deletion in FOXN1 Is Associated with a Syndrome Characterized by Congenital Hypotrichosis and Short Life Expectancy in Birman Cats [2015]

  • Philippe Bossé, Anne Thomas, Laurent Tiret, Marie Abitbol, Génétique fonctionnelle et médicale, Institut National de la Recherche Agronomique (INRA), Antagene, Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), and Abitbol, Marie
  • PLoS ONE
    PLoS ONE, Public Library of Science, 2015, 10 (3), pp.e0120668. ⟨10.1371/journal.pone.0120668⟩
    PLoS ONE, Vol 10, Iss 3, p e0120668 (2015)
Subjects
[SDV]Life Sciences [q-bio], [SDV.GEN]Life Sciences [q-bio]/Genetics, [SDV.GEN.GA]Life Sciences [q-bio]/Genetics/Animal genetics, ComputingMilieux_MISCELLANEOUS, [SDV] Life Sciences [q-bio], [SDV.GEN] Life Sciences [q-bio]/Genetics, [SDV.GEN.GA] Life Sciences [q-bio]/Genetics/Animal genetics, Multidisciplinary, Hypotrichosis, medicine.disease, medicine, Frameshift mutation, Genetics, Biology, Phenotype, FOXN1, Mutation, medicine.disease_cause, Allele frequency, Allele, CATS, integumentary system, lcsh:Medicine, lcsh:R, lcsh:Science, lcsh:Q, and Research Article
Abstract
An autosomal recessive syndrome characterized by congenital hypotrichosis and short life expectancy has been described in the Birman cat breed (Felis silvestris catus). We hypothesized that a FOXN1 (forkhead box N1) loss-of-function allele, associated with the nude phenotype in humans, mice and rats, may account for the syndrome observed in Birman cats. To the best of our knowledge, spontaneous mutations in FOXN1 have never been described in non-human, non-rodent mammalian species. We identified a recessive c.1030_1033delCTGT deletion in FOXN1 in Birman cats. This 4-bp deletion was associated with the syndrome when present in two copies. Percentage of healthy carriers in our French panel of genotyped Birman cats was estimated to be 3.2%. The deletion led to a frameshift and a premature stop codon at position 547 in the protein. In silico, the truncated FOXN1 protein was predicted to lack the activation domain and critical parts of the forkhead DNA binding domain, both involved in the interaction between FOXN1 and its targets, a mandatory step to promote normal hair and thymic epithelial development. Our results enlarge the panel of recessive FOXN1 loss-of-function alleles described in mammals. A DNA test is available; it will help owners avoid matings at risk and should prevent the dissemination of this morbid mutation in domestic felines.

57. Prevalence of deafness and association with coat variations in client-owned ferrets [2014]

  • Minh Huynh, Kirsten Gnirs, Stéphanie Piazza, Marie Abitbol, Laurent Cauzinille, Génétique fonctionnelle et médicale, Institut National de la Recherche Agronomique (INRA), University of Ottawa [Ottawa], University of Ottawa [Ottawa] (uOttawa), and Abitbol, Marie
  • Journal of the American Veterinary Medical Association
    Journal of the American Veterinary Medical Association, American Veterinary Medical Association, 2014, 244 (9), pp.1047-1052. ⟨10.2460/javma.244.9.1047⟩
Subjects
[SDV]Life Sciences [q-bio], [SDV.BA]Life Sciences [q-bio]/Animal biology, [SDV.BA.MVSA]Life Sciences [q-bio]/Animal biology/Veterinary medicine and animal Health, ComputingMilieux_MISCELLANEOUS, [SDV] Life Sciences [q-bio], [SDV.BA] Life Sciences [q-bio]/Animal biology, [SDV.BA.MVSA] Life Sciences [q-bio]/Animal biology/Veterinary medicine and animal Health, General Veterinary, Physiology, Premature graying, Epidemiology, medicine.medical_specialty, medicine, Biology, Coat, Anatomy, Congenital sensorineural deafness, Incidence (epidemiology), and otorhinolaryngologic diseases
Abstract
Objective—To evaluate the prevalence of congenital sensorineural deafness (CSD) and its association with phenotypic markers in client-owned ferrets. Design—Epidemiological study. Animals—152 healthy European pet ferrets. Procedures—Brainstem auditory evoked response tests were recorded in ferrets during general anesthesia. Phenotypic markers such as sex, coat color and pattern, coat length (Angora or not), and premature graying trait were assessed. Results—Overall, 44 of the 152 (29%) ferrets were affected by CSD; 10 (7%) were unilaterally deaf, and 34 (22%) were bilaterally deaf. There was no association between CSD and sex or Angora trait, but a strong association between CSD and white patterned coat or premature graying was identified. All panda, American panda, and blaze ferrets were deaf. Conclusions and Clinical Relevance—The ferrets in this study had a high prevalence of CSD that was strictly associated with coat color patterns, specifically white markings and premature graying. This seemed to be an emerging congenital defect in pet ferrets because white-marked coats are a popular new coat color. Breeders should have a greater awareness and understanding of this defect to reduce its prevalence for the overall benefit of the species. (J Am Vet Med Assoc 2014;244:1047–1052)

58. A COLQ Missense Mutation in Sphynx and Devon Rex Cats with Congenital Myasthenic Syndrome [2015]

  • Nicolas Blanchard-Gutton, Marie Abitbol, Philippe Bossé, Anne Thomas, Laurent Tiret, Stéphane Blot, Christophe Hitte, Lionel Martignat, Génétique fonctionnelle et médicale, Institut National de la Recherche Agronomique (INRA), Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Université Paris-Est Marne-la-Vallée (UPEM), Antagene, Immuno-Endocrinologie Cellulaire et Moléculaire (IECM), Institut National de la Recherche Agronomique (INRA)-Université de Nantes (UN)-Ecole Nationale Vétérinaire de Nantes, UPR de neurobiologie, École nationale vétérinaire d'Alfort (ENVA), Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Génétique Moléculaire et Cellulaire (UGMC), École nationale vétérinaire d'Alfort (ENVA)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Animal Genetics Laboratory, Ecole Nationale Vétérinaire de Nantes-Université de Nantes (UN)-Institut National de la Recherche Agronomique (INRA), Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), LOOF (Livre Officiel des Origines Felines), Morris Animal Foundation D14FE-563, École nationale vétérinaire - Alfort (ENVA)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), École nationale vétérinaire - Alfort (ENVA), Institut National de la Recherche Agronomique (INRA)-Université de Nantes (UN)-Ecole Nationale Vétérinaire de Nantes-École nationale vétérinaire, agroalimentaire et de l'alimentation Nantes-Atlantique (ONIRIS), and Abitbol, Marie
  • PLoS ONE
    PLoS ONE, Public Library of Science, 2015, 10 (9), pp.e0137019. ⟨10.1371/journal.pone.0137019⟩
    PLoS ONE, Vol 10, Iss 9, p e0137019 (2015)
    Plos One 9 (10), e0137019. (2015)
Subjects
Multidisciplinary, Disease gene identification, Founder effect, Candidate gene, CATS, Congenital myasthenic syndrome, medicine.disease, medicine, Sphynx cat, biology.animal_breed, biology, Genetics, COLQ, Missense mutation, [SDV]Life Sciences [q-bio], [SDV.GEN]Life Sciences [q-bio]/Genetics, [SDV.GEN.GA]Life Sciences [q-bio]/Genetics/Animal genetics, ComputingMilieux_MISCELLANEOUS, lcsh:Medicine, lcsh:R, lcsh:Science, lcsh:Q, Research Article, Sciences du Vivant, and Life Sciences
Abstract
International audience; An autosomal recessive neuromuscular disorder characterized by skeletal muscle weakness, fatigability and variable electromyographic or muscular histopathological features has been described in the two related Sphynx and Devon Rex cat breeds (Felis catus). Collection of data from two affected Sphynx cats and their relatives pointed out a single disease candidate region on feline chromosome C2, identified following a genome-wide SNP-based homozygosity mapping strategy. In that region, we further identified COLQ (collagen-like tail subunit of asymmetric acetylcholinesterase) as a good candidate gene, since COLQ mutations were identified in affected humans and dogs with endplate acetylcholinesterase deficiency leading to a synaptic form of congenital myasthenic syndrome (CMS). A homozygous c.1190G\textgreaterA missense variant located in exon 15 of COLQ, leading to a C397Y substitution, was identified in the two affected cats. C397 is a highly-conserved residue from the C-terminal domain of the protein; its mutation was previously shown to produce CMS in humans, and here we confirmed in an affected Sphynx cat that it induces a loss of acetylcholinesterase clustering at the neuromuscular junction. Segregation of the c.1190G\textgreaterA variant was 100% consistent with the autosomal recessive mode of inheritance of the disorder in our cat pedigree; in addition, an affected, unrelated Devon Rex cat recruited thereafter was also homozygous for the variant. Genotyping of a panel of 333 cats from 14 breeds failed to identify a single carrier in non-Sphynx and non-Devon Rex cats. Finally, the percentage of healthy carriers in a European subpanel of 81 genotyped Sphynx cats was estimated to be low (3.7%) and 14 control Devon Rex cats were genotyped as wild-type individuals. Altogether, these results strongly support that the neuromuscular disorder reported in Sphynx and Devon Rex breeds is a CMS caused by a unique c.1190G\textgreaterA missense mutation, presumably transmitted through a founder effect, which strictly and slightly disseminated in these two breeds. The presently available DNA test will help owners avoid matings at risk.

59. Haplosufficiency of PAX3 for melanoma development in Tyr: NRASQ61K; Cdkn2a-/- mice allows identification and sorting of melanoma cells using a Pax3GFP reporter allele. [2016]

  • Campagne C, Reyes-Gomez E, Loiodice S, Gadin S, Ezagal J, Bernex F, Abitbol M, Louise A, Beermann F, Panthier JJ, Aubin-Houzelstein G, and Egidy G
  • Melanoma research [Melanoma Res] 2016 Feb; Vol. 26 (1), pp. 12-20.
Subjects
Alleles, Amino Acid Substitution, Animals, Cell Separation, Cells, Cultured, Female, Genes, Reporter, Genes, p16, Genes, ras, Green Fluorescent Proteins genetics, Melanoma pathology, Mice, Mice, Inbred C57BL, Mice, Knockout, Monophenol Monooxygenase genetics, PAX3 Transcription Factor, Skin Neoplasms pathology, Cell Transformation, Neoplastic genetics, Haploinsufficiency physiology, Melanoma genetics, Paired Box Transcription Factors genetics, and Skin Neoplasms genetics
Abstract
The role of the Pax3 gene in embryonic development of pigment cells is well characterized. By contrast, the function of Pax3 in melanoma development is controversial. Indeed, data obtained from cultured cells suggest that PAX3 may contribute to melanomagenesis. PAX3 is found to be overexpressed in melanomas and also in nevi compared with normal skin samples. Pax3 homozygous loss of function is embryonic lethal. To assess the role of Pax3 in melanoma development in vivo, we analyzed Pax3 haploinsufficiency in a mouse model of melanoma predisposition. The Pax3(GFP/+) knock-in reporter system was combined with the Tyr::NRAS(Q61K); Cdkn2a(-/-) mouse melanoma model. Melanoma development was followed over 18 months. Histopathological, immunohistochemical, and molecular analyses of lesions at different stages of melanoma progression were carried out. Fluorescence-activated cell sorting on GFP of cells from primary or metastatic melanoma was followed by ex-vivo transformation tests and in-vivo passaging. We report here that Tyr::NRAS(Q61K); Cdkn2a(-/-); Pax3(GFP/+) mice developed metastasizing melanoma as their Tyr::NRAS(Q61K); Cdkn2a(-/-); littermates. Histopathology showed no differences between the two genotypes, although Pax3 mRNA and PAX3 protein levels in Pax3(GFP/+) lesions were reduced by half. The Pax3(GFP) allele proved to be a convenient marker to identify and directly sort heterogeneous populations of melanoma cells within the tumor bulk at each stage of melanoma progression. This new mouse model represents an accurate and reproducible means for identifying melanoma cells in vivo to study the mechanisms of melanoma development.

60. A missense mutation in the agouti signaling protein gene (ASIP) is associated with the no light points coat phenotype in donkeys. [2015]

  • Abitbol M, Legrand R, and Tiret L
  • Genetics, selection, evolution : GSE [Genet Sel Evol] 2015 Apr 08; Vol. 47, pp. 28. Date of Electronic Publication: 2015 Apr 08.
Subjects
Animals, Genotype, Molecular Sequence Data, Agouti Signaling Protein genetics, Equidae genetics, Mutation, Missense, and Phenotype
Abstract
Background: Seven donkey breeds are recognized by the French studbook and are characterized by a black, bay or grey coat colour including light cream-to-white points (LP). Occasionally, Normand bay donkeys give birth to dark foals that lack LP and display the no light points (NLP) pattern. This pattern is more frequent and officially recognized in American miniature donkeys. The LP (or pangare) phenotype resembles that of the light bellied agouti pattern in mouse, while the NLP pattern resembles that of the mammalian recessive black phenotype; both phenotypes are associated with the agouti signaling protein gene (ASIP).
Findings: We used a panel of 127 donkeys to identify a recessive missense c.349 T > C variant in ASIP that was shown to be in complete association with the NLP phenotype. This variant results in a cysteine to arginine substitution at position 117 in the ASIP protein. This cysteine is highly-conserved among vertebrate ASIP proteins and was previously shown by mutagenesis experiments to lie within a functional site. Altogether, our results strongly support that the identified mutation is causative of the NLP phenotype.
Conclusions: Thus, we propose to name the c.[349 T > C] allele in donkeys, the a(nlp) allele, which enlarges the panel of coat colour alleles in donkeys and ASIP recessive loss-of-function alleles in animals.

61. Two recessive mutations in FGF5 are associated with the long-hair phenotype in donkeys. [2014]

  • Legrand R, Tiret L, and Abitbol M
  • Genetics, selection, evolution : GSE [Genet Sel Evol] 2014 Sep 25; Vol. 46, pp. 65. Date of Electronic Publication: 2014 Sep 25.
Subjects
Alleles, Animals, Frameshift Mutation, Genes, Recessive, Horses genetics, Molecular Sequence Data, Polymorphism, Genetic, Equidae genetics, Fibroblast Growth Factor 5 genetics, Hair physiology, and Mutation
Abstract
Background: Seven donkey breeds are recognized by the French studbook. Individuals from the Pyrenean, Provence, Berry Black, Normand, Cotentin and Bourbonnais breeds are characterized by a short coat, while those from the Poitou breed (Baudet du Poitou) are characterized by a long-hair phenotype. We hypothesized that loss-of-function mutations in the FGF5 (fibroblast growth factor 5) gene, which are associated with a long-hair phenotype in several mammalian species, may account for the special coat feature of Poitou donkeys. To the best of our knowledge, mutations in FGF5 have never been described in Equidae.
Methods: We sequenced the FGF5 gene from 35 long-haired Poitou donkeys, as well as from a panel of 67 short-haired donkeys from the six other French breeds and 131 short-haired ponies and horses.
Results: We identified a recessive c.433_434delAT frameshift deletion in FGF5, present in Poitou and three other donkey breeds and a recessive nonsense c.245G > A substitution, present in Poitou and four other donkey breeds. The frameshift deletion was associated with the long-hair phenotype in Poitou donkeys when present in two copies (n = 31) or combined with the nonsense mutation (n = 4). The frameshift deletion led to a stop codon at position 159 whereas the nonsense mutation led to a stop codon at position 82 in the FGF5 protein. In silico, the two truncated FGF5 proteins were predicted to lack the critical β strands involved in the interaction between FGF5 and its receptor, a mandatory step to inhibit hair growth.
Conclusions: Our results highlight the allelic heterogeneity of the long-hair phenotype in donkeys and enlarge the panel of recessive FGF5 loss-of-function alleles described in mammals. Thanks to the DNA test developed in this study, breeders of non-Poitou breeds will have the opportunity to identify long-hair carriers in their breeding stocks.

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