OMIA 001442-9913 : Forelimb-girdle muscular anomaly in Bos taurus

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2013

Species-specific symbol: FMA

Species-specific description: Tremors and astasia, as a consequence of hypoplasia of the forelimb-girdle muscles

Mapping: Via a genome scan involving 258 microsatellites, Masoudi et al. (2007) mapped this disorder to the middle of chromosome BTA26. Subsequent fine-mapping narrowed down the candidate region to "a 3.5-Mb interval on BTA26 between BM4505 and MOK2602" (Masoudi et al., 2007).

Markers: Maosoudi et al. (2007) reported successful marker-assisted selection against carriers of this disorder, based on genotyping for four microsatellites.

Molecular basis: By comparing sequence in the candidate region (see Mapping section above) of a carrier bull with the bovine reference sequence, Akiyama et al. (2013) identified a causal mutation as "a nucleotide substitution of C to T in exon 4 of the glial cell line derived neurotrophic factor family receptor alpha 1 (GFRΑ1) gene result[ing] in a Q144X mutation".

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
GFRA1 GDNF family receptor alpha 1 Bos taurus 26 NC_037353.1 (36696498..36464988) GFRA1 Homologene, Ensembl, NCBI gene

Variants

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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
Japanese Black Forelimb-girdle muscular anomaly GFRA1 nonsense (stop-gain) UMD 3.1 26 g.36951312C>T c.430C>T p.Q144* 2013 Reference not in PubMed; see OMIA 001442-9913 for reference details 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.
2013 Akiyama, K., Hirano, T., Masoudi, A.A., Uchida, K., Tsuji, T., Kumagai, T., Ohwada, K., Sugimoto, Y., Kunieda, T. :
A Mutation of the GFRF1 Gene is Responsible for Forelimb-Girdle Muscular Anomaly (FMA) of Japanese Black Cattle Plant and Animal Genome XXI Abstract P0555:, 2013.
2008 Masoudi, AA., Uchida, K., Yokouchi, K., Ohwada, K., Abbasi, AR., Tsuji, T., Watanabe, T., Hirano, T., Sugimoto, Y., Kunieda, T. :
Linkage mapping of the locus responsible for forelimb-girdle muscular anomaly of Japanese black cattle on bovine chromosome 26. Anim Genet 39:46-50, 2008. Pubmed reference: 18254734. DOI: 10.1111/j.1365-2052.2007.01679.x.
2007 Masoudi, A.A., Uchida, K., Yokouchi, K., Miyadiera, K., Ogawa, H., Sugimoto, Y., Kunieda, T. :
Marker-assisted selection for forelimb-girdle muscular anomaly of Japanese Black cattle Animal Science Journal 78:672-675, 2007.

Edit History


  • Created by Frank Nicholas on 29 Oct 2007
  • Changed by Frank Nicholas on 04 Jan 2013