In other species: Burton's mouthbrooder , dog , 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:

• MONDO:0019154: androgen insensitivity syndrome

Single-gene trait/disorder: yes

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.

Species-specific description: Lengyel et al. (2024) used CRISPR/Cas9 technology to create "androgen receptor (AR) knockout chickens (AR^-/-) to explore the role of androgen signaling in avian sexual development. Despite developing sex-typical gonads and gonadal hormone production, AR^-/- males and females are infertile. While few somatic sex-specific traits persist (body size, spurs, and tail feathers), crucial sexual attributes such as comb, wattles and sexual behaviors remain underdeveloped in both sexes." This phene includes references to studies involving gene edited or genetically modified organisms (GMO).  

Genetic engineering: Yes - variants have been created artificially, e.g. by genetic engineering or gene editing
Have human generated variants been created, e.g. through genetic engineering and gene editing

Associated gene: