OMIA 000841-9925 : Pulmonary hypertension in Capra hircus

In other species: cattle , chicken , pig

Possibly relevant human trait(s) and/or gene(s) (MIM number): 611783

Mendelian trait/disorder: unknown

Considered a defect: no

Cross-species summary: Hypoxia

Markers: Song et al. (2016) reported that "The missense mutation Q579L that we identified in EPAS1, which occurs next to the Hypoxia-Inducible Factor-1 (HIF-1) domain, was exclusively enriched in the high-altitude populations."

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
EPAS1 endothelial PAS domain protein 1 Capra hircus 11 NC_030818.1 (28318780..28411296) EPAS1 Homologene, Ensembl, NCBI gene

Reference


2016 Song, S., Yao, N., Yang, M., Liu, X., Dong, K., Zhao, Q., Pu, Y., He, X., Guan, W., Yang, N., Ma, Y., Jiang, L. :
Exome sequencing reveals genetic differentiation due to high-altitude adaptation in the Tibetan cashmere goat (Capra hircus). BMC Genomics 17:122, 2016. Pubmed reference: 26892324. DOI: 10.1186/s12864-016-2449-0.

Edit History


  • Created by Frank Nicholas on 28 Oct 2016
  • Changed by Frank Nicholas on 28 Oct 2016