OMIA 000679-9031 : Muscular dystrophy in Gallus gallus

In other species: turkey , dog , domestic cat , sheep , American mink

Possibly relevant human trait(s) and/or gene(s) (MIM number): 310200

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Co-Dominant

Considered a defect: 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_006089.5 (122974144..123035127) WWP1 Homologene, Ensembl, NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

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.

Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
NH-413 strain OPN strain Muscular dystrophy WWP1 missense Gallus_gallus-5.0 2 g.123640033G>A c.1322G>A p.R441Q 2008 18501710 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool

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.
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., 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.
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.
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.

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  • Created by Frank Nicholas on 08 Sep 2008
  • Changed by Frank Nicholas on 09 Dec 2011