XRCC2 mutation causes meiotic arrest, azoospermia and infertility.

ABSTRACT:

Background

Meiotic homologous recombination (HR) plays an essential role in gametogenesis. In most eukaryotes, meiotic HR is mediated by two recombinase systems: ubiquitous RAD51 and meiosis-specific DMC1. In the RAD51-mediated HR system, RAD51 and five RAD51 paralogues are essential for normal RAD51 function, but the role of RAD51 in human meiosis is unclear. The knockout of Rad51 or any Rad51 paralogue in mice exhibits embryonic lethality. We investigated a family with meiotic arrest, azoospermia and infertility but without other abnormalities.

Methods

Homozygosity mapping and whole-exome sequencing were performed in a consanguineous family. An animal model carrying a related mutation was created by using a CRISPR/Cas9 system.

Results

We identified a 1

SUBMITTER: Yang Y 

PROVIDER: S-EPMC6119352 | biostudies-literature | 2018 Sep

REPOSITORIES: biostudies-literature