OMIA:000991-9615 : Androgen insensitivity syndrome (AIS) in Canis lupus familiaris (dog) |
In other species: Burton's mouthbrooder , domestic cat , horse , pig , taurine cattle
Categories: Reproductive system phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 300068 (trait) , 313700 (gene)
Links to relevant human diseases in MONDO:
Single-gene trait/disorder: yes
Mode of inheritance: X-linked
Disease-related: yes
Key variant known: no
Cross-species summary: This is a type of XY difference of sexual development (XY DSD) due to variants in the AR gene. Previously known as Testicular Feminisation Syndrome. This is an abnormality of sexual development in which affected individuals have an XY chromosomal constitution, undescended testes and female secondary sexual characteristics (including female external genitalia). Also, instead of normally developed Mullerian duct derivatives (Fallopian tubes, uterus, cervix, and upper protion of the vagina), they have under-developed Wolffian duct derivatives (epididymis, vas deferens, and seminal vesicle). In all species so far investigated, the inheritance is X-linked recessive. In several species, this disorder is known to be due to a deficiency of an androgen receptor encoded by a gene on the X chromosome. The presence of a Y chromosome induces the undifferentiated embryonic gonads to develop as testes, but, in the absence of androgen receptor, the androgens produced by the testes cannot exert any effect. The result is that the embryo follows the "default" path of development, which is female.
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2021). OMIA:000991-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
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.
2010 | Nowacka-Woszuk, J., Switonski, M. : |
Variability of CAG tandem repeats in exon 1 of the androgen receptor gene is not related with dog intersexuality. Anim Reprod Sci 117:308-13, 2010. Pubmed reference: 19482445. DOI: 10.1016/j.anireprosci.2009.05.001. | |
1993 | Peter, A.T., Markwelder, D., Asem, E.K. : |
Phenotypic feminization in a genetic male dog caused by nonfunctional androgen receptors. Theriogenology 40:1093-105, 1993. Pubmed reference: 16727391. DOI: 10.1016/0093-691x(93)90377-h. |
Edit History
- Created by Frank Nicholas on 06 Sep 2005
- Changed by Imke Tammen2 on 22 Aug 2021