OMIA:000679-9031 : Muscular dystrophy in Gallus gallus (chicken) |
In other species: turkey , dog , domestic cat , sheep , American mink
Categories: Muscle phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 602307 (gene)
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal co-dominant
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2008
Cross-species summary: Degenerative muscle disorder, leading to muscle weakness, liberation of myoglobin into the circulation from skeletal muscle, and subsequent wasting and possible contracture.
Species-specific name: Abnormal muscle; AM
Mapping: Yoshizawa et al. (2003) excluded three possible candidates (SNTB1, SDC2 and GEM) for this locus on GGA2q.
Molecular basis: Matsumoto et al. (2008) provided strong evidence implicating a missense mutation in the gene for ubiquitin ligase (WWP1) as the cause of this disorder.
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| WWP1 | WW domain containing E3 ubiquitin protein ligase 1 | Gallus gallus | 2 | NC_052533.1 (122659195..122720613) | WWP1 | Homologene, Ensembl , NCBI gene |
Variants
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
| OMIA Variant ID | Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Source of Genetic Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 11 | New Hampshire (Chicken) | Muscular dystrophy | WWP1 | missense | Naturally occurring variant | GRCg6a | 2 | g.123014353G>A | c.1322G>A | p.(R441Q) | 2008 | 18501710 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2011). OMIA:000679-9031: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
| 2024 | Imamura, M., Matsumoto, H., Mannen, H., Takeda, S., Aoki, Y. : |
| The R436Q missense mutation in WWP1 disrupts autoinhibition of its E3 ubiquitin ligase activity, leading to self-degradation and loss of function. In Vitro Cell Dev Biol Anim 60:771-780, 2024. Pubmed reference: 38561589. DOI: 10.1007/s11626-024-00894-3. | |
| 2016 | Imamura, M., Nakamura, A., Mannen, H., Takeda, S. : |
| Characterization of WWP1 protein expression in skeletal muscle of muscular dystrophy chickens. J Biochem 159:171-9, 2016. Pubmed reference: 26314333. DOI: 10.1093/jb/mvv084. | |
| 2008 | Matsumoto, H., Maruse, H., Inaba, Y., Yoshizawa, K., Sasazaki, S., Fujiwara, A., Nishibori, M., Nakamura, A., Takeda, S., Ichihara, N., Kikuchi, T., Mukai, F., Mannen, H. : |
| The ubiquitin ligase gene (WWP1) is responsible for the chicken muscular dystrophy. FEBS Letters 582:2212-8, 2008. Pubmed reference: 18501710. DOI: 10.1016/j.febslet.2008.05.013. | |
| 2005 | Saito, F., Blank, M., Schroder, J., Manya, H., Shimizu, T., Campbell, KP., Endo, T., Mizutani, M., Kroger, S., Matsumura, K. : |
| Aberrant glycosylation of alpha-dystroglycan causes defective binding of laminin in the muscle of chicken muscular dystrophy. FEBS Lett 579:2359-63, 2005. Pubmed reference: 15848172. DOI: 10.1016/j.febslet.2005.03.033. | |
| 2004 | Yoshizawa, K., Inaba, K., Mannen, H., Kikuchi, T., Mizutani, M., Tsuji, S. : |
| Fine mapping of the muscular dystrophy (AM) gene on chicken chromosome 2q. Anim Genet 35:397-400, 2004. Pubmed reference: 15373744. DOI: 10.1111/j.1365-2052.2004.01171.x. | |
| 2003 | Yoshizawa, K., Inaba, K., Mannen, H., Kikuchi, T., Mizutani, M., Tsuji, S. : |
| Analyses of beta-1 syntrophin, syndecan 2 and gem GTPase as candidates for chicken muscular dystrophy. Exp Anim 52:391-6, 2003. Pubmed reference: 14625404. | |
| 2002 | Lee, E.J., Yoshizawa, K., Mannen, H., Kikuchi, H., Kikuchi, T., Mizutani, M., Tsuji, S. : |
| Localization of the muscular dystrophy AM locus using a chicken linkage map constructed with the Kobe University resource family Animal Genetics 33:42-48, 2002. Pubmed reference: 11849136. | |
| 1997 | Tidyman, W.E., Moore, L.A., Bandman, E. : |
| Expression of fast myosin heavy chain transcripts in developing and dystrophic chicken skeletal muscle Developmental Dynamics 208:491-504, 1997. Pubmed reference: 9097021. DOI: 10.1002/(SICI)1097-0177(199704)208:4<491::AID-AJA5>3.0.CO;2-D. | |
| 1995 | Hudecki, M.S., Povoski, S.P., Gregorio, C.C., Granchelli, J.A., Pollina, C.M. : |
| Efficacy of drug regimen exceeds electrostimulation in treatment of avian muscular dystrophy Journal of Applied Physiology 78:2014-2019, 1995. Pubmed reference: 7665393. | |
| Moro, G., Saborido, A., Delgado, J., Molano, F., Megias, A. : | |
| Dihydropyridine receptors in transverse tubules from normal and dystrophic chicken skeletal muscle Journal of Muscle Research & Cell Motility 16:529-542, 1995. | |
| 1993 | Hayakawa, K., Minami, N., Ono, S., Ogasawara, Y., Totsuka, T., Abe, H., Tanaka, T., Obinata, T. : |
| Increased Expression of Cofilin in Dystrophic Chicken and Mouse Skeletal Muscles Journal of Biochemistry 114:582-587, 1993. Pubmed reference: 8276772. | |
| 1991 | Buhr, R.J., Abbott, U.K., Abplanalp, H., Tyler, W.S. : |
| Effects of the Sex-Linked Dwarf Gene (dw) on the Expression of the Muscular Dystrophy Gene (am) in Chicken Journal of Heredity 82:465-470, 1991. Pubmed reference: 1795099. | |
| Kennedy, J.M., Zak, R., Gao, L.Z. : | |
| Myosin Expression in Hypertrophied Fast Twitch and Slow Tonic Muscles of Normal and Dystrophic Chickens Muscle & Nerve 14:166-177, 1991. Pubmed reference: 1825696. DOI: 10.1002/mus.880140212. | |
| 1990 | Kobayashi, R., Toyoshima, I., Masamune, O., Tashima, Y. : |
| Detection and Isolation of a 30-kDa Abnormal Protein in Avian Dystrophic Muscle Journal of Biochemistry 107:51-55, 1990. Pubmed reference: 2332420. | |
| Kobayashi, R., Tashima, Y., Yoshioka, N. : | |
| The 30-kDa Abnormal Protein in Avian Dystrophic Muscle Is Indistinguishable from Carbonic Anhydrase-III by Physicochemical, Immunological, and Enzymological Criteria Journal of Biochemistry 107:56-60, 1990. Pubmed reference: 2110156. | |
| 1989 | Chu, Y., Dietert, R.R. : |
| Monocyte function in chickens with hereditary muscular dystrophy Poultry Science 68:226-232, 1989. Pubmed reference: 2704678. | |
| Kobayashi, R., Tashima, Y. : | |
| Isolation, Molecular Properties and Biosynthesis of a 67-K Abnormal Protein in Avian Dystrophic Muscle - Evidence for Its Identity with Serum Albumin Biomedical Research 10:315-323, 1989. | |
| 1987 | Maeda, Y., Hayashi, K., Mizutani, M., Hashiguchi, T. : |
| Fractional rates of muscle protein synthesis and degradation in chickens with genetic muscular dystrophy Poultry science 66:757-759, 1987. Pubmed reference: 3615337. | |
| 1981 | Sanders, B.G., Kline, K., Morton, C.J. : |
| Serum IgG levels in the storrs strain of hereditary muscular dystrophic chickens Biochemical Genetics 18:1149-1158, 1981. | |
| 1971 | Ashmore, C.R., Doerr, L. : |
| Postnatal development of fiber types in normal and dystrophic skeletal muscle of the chick Experimental Neurology 30:431-446, 1971. Pubmed reference: 4251991. | |
| Ashmore, C.R., Doerr, L. : | |
| Phosphorylase in skeletal muscle of normal and selected lines of dystrophic chickens Proceedings of the Society for Experimental Biology and Medicine 137:1066-1068, 1971. Pubmed reference: 5560652. | |
| 1968 | Holliday, T.A., Julian, L.M., Asmundson, V.S. : |
| Muscle growth in selected lines of muscular dystrophic chickens Anatomical Record 160:207-216, 1968. Pubmed reference: 5651669. DOI: 10.1002/ar.1091600207. | |
| 1967 | Cardinet, G.H., Tyler, W.S., Julian, L.M. : |
| Ultrastructural observations of vacuoles in hereditary avian muscular dystrophy Anatomical Record 157:224 only, 1967. | |
| 1965 | Tureen, L.L., Farrell, P.M., Cova, R.R. : |
| Comparison of plasma protein changes in antioxidant deficiency muscular dystrophy and genetic muscular dystrophy in the chicken Proceedings of the Society for Experimental Biology and Medicine 119:28-32, 1965. Pubmed reference: 14297873. | |
| 1964 | Jordan, J.P., Kratzer, F.H., Zarghami, N.S. : |
| Lipid composition of the pectoral muscles of chickens with inherited muscular dystrophy Proceedings of the Society for Experimental Biology and Medicine 116:243-246, 1964. Pubmed reference: 14200121. | |
| 1963 | Julian, L.M., Bourne, G.H., Asmundson, V.S., Golarz Basel, M.A., Karger, S. : |
| Muscular dystrophy of the chicken :457-498, 1963. | |
| 1960 | Chung, C.S., Morton, N.E., Peters, H.A. : |
| Serum enzyme and genetic carriers in muscular dystrophy American Journal of Human Genetics 12:52-66, 1960. Pubmed reference: 13810211. | |
| 1959 | Cornelius, C.E., Law, G.R.J., Julian, L.M., Asmundson, V.S. : |
| Plasma aldolase and glutamic-oxaloacetic transaminase activities in inherited muscular dystrophy of domestic chicken Proceedings of the Society for Experimental Biology and Medicine 101:41-44, 1959. Pubmed reference: 13658184. | |
| 1956 | Asmundson, V.S., Julian, L.M. : |
| Inherited muscle abnormality in the domestic fowl Journal of Heredity 47:248–252, 1956. |
Edit History
- Created by Frank Nicholas on 08 Sep 2008
- Changed by Frank Nicholas on 09 Dec 2011