OMIA:001728-61084 : Sex determination in Plecoglossus altivelis

In other species: torafugu , Nile tilapia , sheep , northern pike , horse , ass (donkey) , clearhead icefish , goldfish , Japanese quail , silver trevally , chicken , Mallard , common quail , turkey , swan goose , Canada goose , petrels , red-eared slider turtle , taurine cattle , Gila monster , Chinese soft-shelled turtle , Atlantic salmon , whitespotted clarias , tammar wallaby , Atlantic halibut , green-eyed treefrog , Japanese flounder , jackdaw

Categories: Reproductive system phene

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 261550 (trait) , 600956 (gene)

Links to MONDO diseases: No links.

Mendelian trait/disorder: yes

Considered a defect: no

Key variant known: no

Species-specific description: Nakamoto et al. (2021): "Genome-wide association mapping using wild ayu populations revealed three sex-linked scaffolds (total, 2.03 Mb). Comparison of whole-genome resequencing mapping coverage between males and females identified male-specific regions in sex-linked scaffolds. A duplicate copy of the anti-Müllerian hormone type-II receptor gene (amhr2bY) was found within these male-specific regions, distinct from the autosomal copy of amhr2. Expression of the Y-linked amhr2 gene was male-specific in sox9b-positive somatic cells surrounding germ cells in undifferentiated gonads, whereas autosomal amhr2 transcripts were detected in somatic cells in sexually undifferentiated gonads of both genetic males and females. Loss-of-function mutation for amhr2bY induced male to female sex reversal. Taken together with the known role of Amh and Amhr2 in sex differentiation, these results indicate that the paralog of amhr2 on the ayu Y chromosome determines genetic sex, and the male-specific amh-amhr2 pathway is critical for testicular differentiation in ayu."

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2021). OMIA:001728-61084: Online Mendelian Inheritance in Animals (OMIA) [dataset].


2021 Nakamoto, M., Uchino, T., Koshimizu, E., Kuchiishi, Y., Sekiguchi, R., Wang, L., Sudo, R., Endo, M., Guiguen, Y., Schartl, M., Postlethwait, J.H., Sakamoto, T. :
A Y-linked anti-Müllerian hormone type-II receptor is the sex-determining gene in ayu, Plecoglossus altivelis. PLoS Genet 17:e1009705, 2021. Pubmed reference: 34437539 . DOI: 10.1371/journal.pgen.1009705.

Edit History

  • Created by Imke Tammen2 on 28 Aug 2021
  • Changed by Imke Tammen2 on 28 Aug 2021