OMIA 001709-8090 : XY Ovotesticular DSD (Disorder of Sexual Development), DMRT1-related in Oryzias latipes

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 154230 (trait) , 602424 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2012

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:

Symbol Description Species Chr Location OMIA gene details page Other Links
DMRT1 Oryzias latipes - no genomic information (-..-) DMRT1 Ensembl


2012 Masuyama, H., Yamada, M., Kamei, Y., Fujiwara-Ishikawa, T., Todo, T., Nagahama, Y., Matsuda, M. :
Dmrt1 mutation causes a male-to-female sex reversal after the sex determination by Dmy in the medaka. Chromosome Res 20:163-76, 2012. Pubmed reference: 22187367. DOI: 10.1007/s10577-011-9264-x.

Edit History

  • Created by Frank Nicholas on 11 Jul 2012