A missense in HSF2BP causing primary ovarian insufficiency affects meiotic recombination by its novel interactor C19ORF57/BRME1

A missense in HSF2BP causing primary ovarian insufficiency affects meiotic recombination by its novel interactor C19ORF57/BRME1

Primary Ovarian Insufficiency (POI) is a major cause of infertility, but its etiology remains poorly understood. Using whole-exome sequencing in a family with three cases of POI, we identified the candidate missense variant S167L in HSF2BP, an essential meiotic gene. Functional analysis of the HSF2B...

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Bibliographic Details
Main Authors: Natalia Felipe-Medina, Sandrine Caburet, Fernando Sánchez-Sáez, Yazmine B Condezo, Dirk G de Rooij, Laura Gómez-H, Rodrigo Garcia-Valiente, Anne Laure Todeschini, Paloma Duque, Manuel Adolfo Sánchez-Martin, Stavit A Shalev, Elena Llano, Reiner A Veitia, Alberto M Pendás
Format: Article
Language:English
Published: eLife Sciences Publications Ltd 2020-08-01
Series:eLife
Subjects:
meiosis
meiotic recombination
fertility
reproduction
human genetics
Online Access:https://elifesciences.org/articles/56996

Internet

https://elifesciences.org/articles/56996

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