OMIA 000991-9796 : Androgen insensitivity syndrome (AIS) in Equus caballus |
In a "Warmblood horse pedigree segregating AIS", Welsford et al. (2017) "provided evidences that a 25-bp deletion of the DNA-binding domain [of the AR gene] is causative" in this breed.
Villagomez et al. (2020) reported "two novel genetic variants for the AR-gene identified in a Tennessee Walking Horse and a Thoroughbred horse mare; each in individual clinical cases of horse AIS syndrome . . . c.183delT in Case #1 and c.2132C>T in Case #2".
Breeds: American Quarter Horse, Tennessee Walking Horse, Thoroughbred. Associated gene:Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
---|---|---|---|---|---|---|
AR | androgen receptor | Equus caballus | X | NC_009175.3 (52728703..52884282) | AR | 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.
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
436 | Quarter Horse | Androgen insensitivity syndrome (AIS) | AR | regulatory | Naturally occurring variant | EquCab3.0 | X | g.52728703A>G | c.1A>G | NM_001163891.1; NP_001157363.1; mutation in start codon | 2012 | 22095250 | The genomic position in EquCab3.0 was provided by Ceara Mulvey, working under the guidance of Professor Ernie Bailey in April 2022 | ||||
1143 | Tennessee Walking Horse | Androgen insensitivity syndrome (AIS) | AR | deletion, small (<=20) | Naturally occurring variant | EquCab3.0 | X | g.52728885del | c.183del | p.(R63Gfs) | NM_001163891.1; NP_001157363.1; published as c.183delT and p.(Ser61fs); c. and p. information in the table has been updated to HGVS nomenclature | 2020 | 31936796 | The genomic position in EquCab3.0 was provided by Ceara Mulvey, working under the guidance of Professor Ernie Bailey in April 2022 | |||
783 | Androgen insensitivity syndrome | AR | deletion, gross (>20) | Naturally occurring variant | EquCab3.0 | X | g.52808634_52808658del | c.1630_1654del | NM_001163891.1; NP_001157363.1; the deletion is predicted to create a frameshift: "resulting in altered amino acid composition from p.543Lys and a premature stop codon 44 amino acid residues downstream in exon 3" | 2017 | 28192783 | ||||||
786 | Thoroughbred | Androgen insensitivity syndrome | AR | missense | Naturally occurring variant | EquCab3.0 | X | g.52872393G>C | c.2042G>C | p.(W681S) | NM_001163891.1; NP_001157363.1 | 2016 | 27073903 | The genomic position in EquCab3.0 was provided by Ceara Mulvey, working under the guidance of Professor Ernie Bailey in April 2022; p. coordinates obtained from Villagomez et al. (2019) | |||
1144 | Thoroughbred | Androgen insensitivity syndrome (AIS) | AR | missense | Naturally occurring variant | EquCab3.0 | X | g.52878093C>T | c.2132C>T | p.(A711V) | NM_001163891.1; NP_001157363.1 | 2020 | 31936796 |
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.
2020 | Villagomez, D.A.F., Welsford, E.G., King, W.A., Revay, T. : | |
Androgen receptor gene variants in new vases of equine androgen insensitivity syndrome. Genes (Basel) 11:78, 2020. Pubmed reference: 31936796. DOI: 10.3390/genes11010078. | ||
2017 | Welsford, G.E., Munk, R., Villagómez, D.A., Hyttel, P., King, W.A., Revay, T. : | |
Androgen insensitivity syndrome in a family of Warmblood horses caused by a 25-bp deletion of the DNA-binding domain of the androgen receptor gene. Sex Dev 11:40-45, 2017. Pubmed reference: 28192783. DOI: 10.1159/000455114. | ||
2016 | Bolzon, C., Joonè, C.J., Schulman, M.L., Harper, C.K., Villagómez, D.A., King, W.A., Révay, T. : | |
Missense mutation in the ligand-binding domain of the horse androgen receptor gene in a thoroughbred family with inherited 64,XY (SRY+) disorder of sex development. Sex Dev 10:37-44, 2016. Pubmed reference: 27073903. DOI: 10.1159/000444991. | ||
2012 | Pujar, S., Meyers-Wallen, V. : | |
Sequence variations in equine candidate genes for XX and XY inherited disorders of sexual development. Reprod Domest Anim 47:827-834, 2012. Pubmed reference: 22239239. DOI: 10.1111/j.1439-0531.2011.01976.x. | ||
Révay, T., Villagómez, D.A., Brewer, D., Chenier, T., King, W.A. : | ||
GTG mutation in the start codon of the androgen receptor gene in a family of horses with 64,XY disorder of sex development. Sex Dev 6:108-16, 2012. Pubmed reference: 22095250. DOI: 10.1159/000334049. | ||
2011 | Villagómez, D.A., Lear, T.L., Chenier, T., Lee, S., McGee, R.B., Cahill, J., Foster, R.A., Reyes, E., St John, E., King, W.A. : | |
Equine disorders of sexual development in 17 mares including XX, SRY-negative, XY, SRY-negative and XY, SRY-positive genotypes. Sex Dev 5:16-25, 2011. Pubmed reference: 21196712. DOI: 10.1159/000322811. | ||
2005 | Switonski, M., Chmurzynska, A., Szczerbal, I., Lipczynski, A., Yang, F., Nowicka-Posluszna, A. : | |
Sex reversal syndrome (64,XY; SRY-positive) in a mare demonstrating masculine behaviour. J Anim Breed Genet 122 Suppl 1:60-3, 2005. Pubmed reference: 16130458. | ||
2004 | Howden, K.J. : | |
Androgen insensitivity syndrome in a thoroughbred mare (64, XY--testicular feminization). Can Vet J 45:501-3, 2004. Pubmed reference: 15283519. | ||
1992 | Crabbe, B.G., Freeman, D.A., Grant, B.D., Kennedy, P., Whitlatch, L., Macrae, K. : | |
Testicular feminization syndrome in a mare. Journal of the American Veterinary Medical Association 200:1689-1691, 1992. Pubmed reference: 1624347. | ||
1986 | Enbergs, H., Schulte-Beckhausen, W. : | |
[Sex chromosome anomalies in mares and cytogenetic investigations on mares with severe fertility disturbances] Zuchthygiene 21:105-114, 1986. | ||
1976 | Kieffer, N.M. : | |
Male pseudohermaphroditism of the testicular feminizing type in a horse. Equine Vet J 8:38-41, 1976. Pubmed reference: 943286. |
Edit History
- Created by Frank Nicholas on 06 Sep 2005
- Changed by Frank Nicholas on 04 Jul 2012
- Changed by Frank Nicholas on 06 Aug 2017
- Changed by Frank Nicholas on 27 Jan 2020
- Changed by Frank Nicholas on 03 Feb 2020
- Changed by Imke Tammen2 on 30 Apr 2022