Article
Two ovarian candidate enhancers, identified by time series enhancer RNA analyses, harbor rare genetic variations identified in ovarian insufficiency.
Human molecular genetics - 7 Jul 2022
Nakagawa Ryuichi, Takasawa Kei, Gau Maki, Tsuji-Hosokawa Atsumi, Kawaji Hideya, Murakawa Yasuhiro, Takada Shuji, Mikami Masashi, Narumi Satoshi, Fukami Maki, Sreenivasan Rajini, Maruyama Tetsuo, Tucker Elena J, Zhao Liang, Bowles Josephine, Sinclair Andrew, Koopman Peter, Hayashizaki Yoshihide, Morio Tomohiro, Kashimada Kenichi
Abstract excerpt
The genetic regulation of ovarian development remains largely unclear. Indeed, in most cases of impaired ovarian development-such as 46,XX disorders of sex development (DSD) without SRY, and premature ovarian insufficiency (POI)-the genetic causes have not been identified, and the vast majority of disease-associated sequence variants could lie within non-coding regulatory sequences. In this study, we aimed to...
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