Article

Nucleoporin107 mediates female sexual differentiation via Dsx

2021-08-16

Abstract excerpt

We recently identified a missense mutation in Nucleoporin107 (Nup107; D447N) underlying XX-ovarian-dysgenesis, a rare disorder characterized by underdeveloped and dysfunctional ovaries. Modelling of the human mutation in Drosophila or specific knockdown of Nup107 in the gonadal soma resulted in ovarian-dysgenesis-like phenotypes. Transcriptomic analysis identified the somatic sex-determination gene doublesex (dsx)...

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Literature Corpus work: ec2d69f7-4392-5e50-8524-8183410346c2
DOI: 10.1101/2021.08.16.456487

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