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Article

A Homozygous Loss-of-Function Mutation in MSH5 Abolishes MutSγ Axial Loading and Causes Meiotic Arrest in NOA-Affected Individuals.

International journal of molecular sciences - 10 Jun 2022

Gong Chenjia, Abbas Tanveer, Muhammad Zubair, Zhou Jianteng, Khan Ranjha, Ma Hui, Zhang Huan, Shi Qinghua, Shi Baolu

Abstract excerpt

Non-obstructive azoospermia (NOA), characterized by spermatogenesis failure and the absence of sperm in ejaculation, is the most severe form of male infertility. However, the etiology and pathology between meiosis-associated monogenic alterations and human NOA remain largely unknown. A homozygous MSH5 mutation (c.1126del) was identified from two idiopathic NOA patients in the consanguineous family. This mutation...

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Identifiers

PMID: 35742973
DOI: 10.3390/ijms23126522
PMCID: PMC9224491

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