OMIA 001319-9913 : Myopathy of the diaphragmatic muscles in Bos taurus

Possibly relevant human trait(s) and/or gene(s) (MIM number): 140550

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.

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)

Breed: Holstein Friesian.

Associated gene:

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

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
Holstein-Friesian Myopathy of the diaphragmatic muscles HSPA1A deletion, gross (>20) 23 Deletion of one of two HSP70 (heat-shock protein) genes in the bovine major histocompatibility complex 2003 12755819

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.
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.

Edit History


  • Created by Frank Nicholas on 05 Jun 2006
  • Changed by Frank Nicholas on 09 Dec 2011
  • Changed by Frank Nicholas on 21 Sep 2012