In other species: rabbit , tongue sole

Categories: Reproductive system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 602424 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal

Disease-related: yes

Key variant known: yes

Year key variant first reported: 2012

Cross-species summary: This is a type of XY difference of sexual development (XY DSD) due to variants in the DMRT1 gene. Renamed from 'XY Ovotesticular DSD (Disorder of Sexual Development), DMRT1-related' [29/09/2023]

Molecular basis: Masuyama et al. (2012) reported a mutation in the DMRT1 gene that results in chromosomally XY (male) medaka fish developing "into normal females and [laying] eggs". They further reported that "The mutant phenotype could be rescued by transgenesis of the Dmrt1 genomic region."

Pathology: "Histological analyses of this mutant revealed that the XY mutant gonads first developed into the normal testis type. However, the gonads transdifferentiated into the ovary type." (Masuyama et al., 2012)

Associated gene: