OMIA:001319-9913 : Myopathy of the diaphragmatic muscles in Bos taurus (taurine cattle)
Categories: Muscle phene
Possibly relevant human trait(s) and/or gene(s) (MIM number): 140550 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2003
Species-specific symbol: HMDM
Mapping: A genome scan with 1200 microsatellites enabled Sugimoto et al. (2003) to linkage map the HMDM locus to the bovine MHC on chromosome BTA23q21.
Molecular basis: From a BAC contig encompassing the candidate region of the bovine MHC (see Mapping section above), Sugimoto at al. (2003) determined that this disorder in Holstein-Friesian cattle is due to the deletion of one of two HSP70 (heat-shock protein) genes in the bovine major histocompatibility complex.
Have human generated variants been created, e.g. through genetic engineering and gene editing
Clinical features: "In normal diaphragmatic muscle, Hsp70 binds several proteins involved in energy metabolism including glycogen phosphorylase (PYGM). Immunohistochemical staining indicated that PYGM accumulated in the HMDM-specific core-like structures in affected cattle. Misfolding of energy-related proteins due to Hsp70 deficiency might lead to protein aggregation and muscle fibre degeneration." (Sugimoto at al., 2003)
Holstein Friesian (Cattle) (VBO_0000239).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|HSPA1A||heat shock 70kDa protein 1A||Bos taurus||23||NC_037350.1 (27522790..27520317)||HSPA1A||Homologene, Ensembl , NCBI gene|
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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||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|919||Holstein Friesian (Cattle)||Myopathy of the diaphragmatic muscles||HSPA1A||deletion, gross (>20)||Naturally occurring variant||23||Deletion of one of two HSP70 (heat-shock protein) genes in the bovine major histocompatibility complex||2003||12755819|
Cite this entry
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.
|2003||Sugimoto, M., Furuoka, H., Sugimoto, Y. :|
|Deletion of one of the duplicated Hsp70 genes causes hereditary myopathy of diaphragmatic muscles in Holstein-Friesian cattle. Anim Genet 34:191-7, 2003. Pubmed reference: 12755819.|
|2001||Furuoka, H., Yagi, S., Murakami, A., Honma, A., Kobayashi, Y., Matsui, T., Miyahara, K., Taniyama, H. :|
|Hereditary dilated cardiomyopathy in Holstein-Friesian cattle in Japan: Association with hereditary myopathy of the diaphragmatic muscles Journal of Comparative Pathology 125:159-165, 2001. Pubmed reference: 11578132. DOI: 10.1053/jcpa.2001.0494.|
|1999||Furuoka, H., Murakami, A., Doi, T., Kobayashi, Y., Matsui, T., Nakamura, N. :|
|Immunohistochemical and electron microscopical studies of myocardial inclusions in hereditary myopathy of the diaphragmatic muscles in Holstein-Friesian cattle Acta Neuropathologica 97:185-191, 1999. Pubmed reference: 9928830.|
|Furuoka, H., Murakami, A., Tsuchihashi, M., Yokota, H., Doi, T., Kobayashi, Y., Matsui, T., Horiuchi, M., Taniyama, H. :|
|Immunohistochemical study of some cytoskeletal proteins in hereditary myopathy of the diaphragmatic muscles in Holstein-Friesian cattle Acta Neuropathologica 97:177-184, 1999. Pubmed reference: 9928829.|
|1995||Furuoka, H., Doi, T., Nakamura, N., Inada, I., Osame, S., Matsui, T. :|
|Hereditary myopathy of the diaphragmatic muscles in Holstein-Friesian cattle. 90:339-46, 1995. Pubmed reference: 8546024.|
- Created by Frank Nicholas on 05 Jun 2006
- Changed by Frank Nicholas on 09 Dec 2011
- Changed by Frank Nicholas on 21 Sep 2012