OMIA:000991-8153 : Androgen insensitivity syndrome (AIS) in Haplochromis burtoni (Burton's mouthbrooder)

In other species: 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:

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2020

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: Alward et al. (2020) "used CRISPR/Cas9 gene editing to generate AR mutant A. burtoni and performed a suite of experiments to interrogate the mechanistic basis of social dominance. [The authors] find that ARβ, but not ARα, is required for testes growth and bright coloration, while ARα, but not ARβ, is required for the performance of reproductive behavior and aggressive displays." Howard et al. (2023) "leveraged androgen receptor (AR) mutant male A. burtoni that lack dominance-typical coloration but not behavior to isolate the role of male coloration in driving female mating behaviors in this species." 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 genes:

Symbol Description Species Chr Location OMIA gene details page Other Links
AR alpha Androgen receptor alpha Haplochromis burtoni - no genomic information (-..-) AR alpha Ensembl
AR beta Androgen receptor beta Haplochromis burtoni - no genomic information (-..-) AR beta Ensembl

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:000991-8153: Online Mendelian Inheritance in Animals (OMIA) [dataset].


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.

2023 Howard, M.R., Ramsaroop, M.G., Hoadley, A.P., Jackson, L.R., Lopez, M.S., Saenz, L.A., Alward, B. :
Female cichlids attack and avoid-but will still mate with-androgen receptor mutant males that lack male-typical body coloration. bioRxiv , 2023. Pubmed reference: 37961273. DOI: 10.1101/2023.11.02.565323.
2020 Alward, B.A., Laud, V.A., Skalnik, C.J., York, R.A., Juntti, S.A., Fernald, R.D. :
Modular genetic control of social status in a cichlid fish. Proc Natl Acad Sci U S A 117:28167-28174, 2020. Pubmed reference: 33106426. DOI: 10.1073/pnas.2008925117.

Edit History

  • Created by Imke Tammen2 on 15 Nov 2023
  • Changed by Imke Tammen2 on 15 Nov 2023
  • Changed by Imke Tammen2 on 16 Nov 2023
  • Changed by Imke Tammen2 on 10 Dec 2023