OMIA 000841-9913 : Pulmonary hypertension in Bos taurus |
In other species:
chicken
,
goat
Possibly relevant human trait(s) and/or gene(s) (MIM number):
611783
Mendelian trait/disorder:
no
Mode of inheritance:
Multifactorial
Considered a defect:
yes
Key variant known:
no
Species-specific name:
High-altitude pulmonary hypertension
Species-specific symbol:
HAPH
Markers:
Newman et al. (2015) reported a "newly identified double variant in the hypoxia inducible factor (HIF2α) gene, Endothelial PAS domain-containing protein 1 (EPAS1), that is highly associated with HAPH and probably represents a gain of function mutation that is prevalent in low-altitude Angus herds and only expresses disease in the hypoxic state at high altitude". This variant comprised two missense mutations, namely A606T and G610S.
From a specially-assembled whole-genome-sequence panel of 96 minimally-related beef sires representing 19 breeds, Heaton et al. (2016) reported four additional missense mutations: E270Q, P362L, A671G, and L701F. Although having no data to test for association, these authors did construct a "rooted phylogenetic tree of eight polypeptide sequences [that] provided a framework for evaluating the likely order of mutations and potential impact of EPAS1 alleles on the adaptive response to chronic hypoxia in U.S. cattle".
Associated gene:| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| EPAS1 | endothelial PAS domain protein 1 | Bos taurus | 11 | NC_037338.1 (28735330..28825665) | EPAS1 | Homologene, Ensembl, NCBI gene |
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 | Crawford, N.F., Thomas, M.G., Holt, T.N., Speidel, S.E., Enns, R.M. : | |
| Heritabilities and genetic correlations of pulmonary arterial pressure and performance traits in Angus cattle at high altitude. J Anim Sci 94:4483-4490, 2016. Pubmed reference: 27898959. DOI: 10.2527/jas.2016-0703. | ||
| Heaton, M.P., Smith, T.P., Carnahan, J.K., Basnayake, V., Qiu, J., Simpson, B., Kalbfleisch, T.S. : | ||
| Using diverse U.S. beef cattle genomes to identify missense mutations in EPAS1, a gene associated with pulmonary hypertension. F1000Res 5:2003, 2016. Pubmed reference: 27746904. DOI: 10.12688/f1000research.9254.2. | ||
| 2015 | Neary, J.M., Garry, F.B., Holt, T.N., Brown, R.D., Stenmark, K.R., Enns, R.M., Thomas, M.G. : | |
| The altitude at which a calf is born and raised influences the rate at which mean pulmonary arterial pressure increases with age. J Anim Sci 93:4714-20, 2015. Pubmed reference: 26523564. DOI: 10.2527/jas.2015-9217. | ||
| Newman, J.H., Holt, T.N., Cogan, J.D., Womack, B., Phillips, J.A., Li, C., Kendall, Z., Stenmark, K.R., Thomas, M.G., Brown, R.D., Riddle, S.R., West, J.D., Hamid, R. : | ||
| Increased prevalence of EPAS1 variant in cattle with high-altitude pulmonary hypertension. Nat Commun 6:6863, 2015. Pubmed reference: 25873470. DOI: 10.1038/ncomms7863. | ||
| 2013 | Neary, J.M., Gould, D.H., Garry, F.B., Knight, A.P., Dargatz, D.A., Holt, T.N. : | |
| An investigation into beef calf mortality on five high-altitude ranches that selected sires with low pulmonary arterial pressures for over 20 years. J Vet Diagn Invest 25:210-8, 2013. Pubmed reference: 23512918. DOI: 10.1177/1040638713478608. | ||
| 2011 | Newman, J.H., Holt, T.N., Hedges, L.K., Womack, B., Memon, S.S., Willers, E.D., Wheeler, L., Phillips, J.A., Hamid, R. : | |
| High-altitude pulmonary hypertension in cattle (brisket disease): Candidate genes and gene expression profiling of peripheral blood mononuclear cells. Pulm Circ 1:462-9, 2011. Pubmed reference: 22530101. DOI: 10.4103/2045-8932.93545. | ||
| 2008 | Han, H., Hansen, T.R., Berg, B., Hess, B.W., Ford, S.P. : | |
| Maternal undernutrition induces differential cardiac gene expression in pulmonary hypertensive steers at high elevation. Am J Physiol Heart Circ Physiol 295:H382-9, 2008. Pubmed reference: 18502902. DOI: 10.1152/ajpheart.01272.2007. | ||
| 2007 | Holt, T.N., Callan, R.J. : | |
| Pulmonary arterial pressure testing for high mountain disease in cattle. Vet Clin North Am Food Anim Pract 23:575-96, vii, 2007. Pubmed reference: 17920462. DOI: 10.1016/j.cvfa.2007.08.001. | ||
| 2005 | Rhodes, J. : | |
| Comparative physiology of hypoxic pulmonary hypertension: historical clues from brisket disease. J Appl Physiol (1985) 98:1092-100, 2005. Pubmed reference: 15703167. DOI: 10.1152/japplphysiol.01017.2004. | ||
| 1991 | Pringle, J.K., Bright, J.M., Duncan, R.B., Kerr, L., Linnabary, R.D., Tarrier, M.P. : | |
| Pulmonary hypertension in a group of dairy calves. J Am Vet Med Assoc 198:857-61, 1991. Pubmed reference: 2026538. | ||
| Zuckerman, B.D., Orton, E.C., Stenmark, K.R., Trapp, J.A., Murphy, J.R., Coffeen, P.R., Reeves, J.T. : | ||
| Alteration of the pulsatile load in the high-altitude calf model of pulmonary hypertension. J Appl Physiol (1985) 70:859-68, 1991. Pubmed reference: 2022578. | ||
| 1987 | Stenmark, K.R., Fasules, J., Hyde, D.M., Voelkel, N.F., Henson, J., Tucker, A., Wilson, H., Reeves, J.T. : | |
| Severe pulmonary hypertension and arterial adventitial changes in newborn calves at 4,300 m. J Appl Physiol 62:821-30, 1987. Pubmed reference: 3558241. | ||
| 1977 | Bisgard, G.E. : | |
| Pulmonary hypertension in cattle. Adv Vet Sci Comp Med 21:151-72, 1977. Pubmed reference: 602866. | ||
| 1975 | Will, D.H., Hicks, J.L., Card, C.S., Alexander, A.F. : | |
| Inherited susceptibility of cattle to high-altitude pulmonary hypertension. J Appl Physiol 38:491-4, 1975. Pubmed reference: 238929. | ||
| Will, D.H., Hicks, J.L., Card, C.S., Reeves, J.T., Alexander, A.F. : | ||
| Correlation of acute with chronic hypoxic pulmonary hypertension in cattle. J Appl Physiol 38:495-8, 1975. Pubmed reference: 238930. | ||
| 1974 | Weir, E.K., Tucker, A., Reeves, J.T., Will, D.H., Grover, R.F. : | |
| The genetic factor influencing pulmonary hypertension in cattle at high altitude. Cardiovasc Res 8:745-9, 1974. Pubmed reference: 4457227. | ||
| 1972 | Anderson, F.L., Sutton, R.B., Tsagaris, T.J., Kuida, H. : | |
| Spontaneous pulmonary hypertension in the bovine. Am J Physiol 222:561-4, 1972. Pubmed reference: 4553937. | ||
| 1963 | Alexander, A.F., Jensen, R. : | |
| Pulmonary vascular pathology of high altitude-induced pulmonary hypertension in cattle Am J Vet Res 24:1112-22, 1963. Pubmed reference: 14081444. | ||
| 1962 | Grover, R.F., Reeves, J.T. : | |
| Experimental induction of pulmonary hypertension in normal steers at high altitude. Med Thorac 19:543-50, 1962. Pubmed reference: 13950864. | ||
| Will, D.H., Alexander, A.F., Reeves, J.T., Grover, R.F. : | ||
| High altitude-induced pulmonary hypertension in normal cattle. Circ Res 10:172-7, 1962. Pubmed reference: 14007066. | ||
| 1960 | Alexander, A.F., Will, D.H., Grover, R.F., Reeves, J.T. : | |
| Pulmonary hypertention and right ventricular hypertrophy in catle at high altitude. Am J Vet Res 21:199-204, 1960. Pubmed reference: 13792577. |
Edit History
- Created by Frank Nicholas on 06 Sep 2005
- Changed by Frank Nicholas on 02 Nov 2011
- Changed by Frank Nicholas on 25 Oct 2016