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Biallelic mutations in DNAH12 cause asthenoteratozoospermia in humans and mice

ABSTRACT: Potential interactors of DNAH12 were explored by immunoprecipitation coupled mass spectrometry proteomics.

ORGANISM(S): Mus Musculus

SUBMITTER: Qinghua Shi

PROVIDER: PXD051681 | iProX | Wed Apr 24 00:00:00 GMT+01:00 2024

REPOSITORIES: iProX

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Deficiency in DNAH12 causes male infertility by impairing DNAH1 and DNALI1 recruitment in humans and mice.

Yang Menglei M Hussain Hafiz Muhammad Jafar HMJ Khan Manan M Muhammad Zubair Z Zhou Jianteng J Ma Ao A Huang Xiongheng X Ye Jingwei J Chen Min M Zhi Aoran A Liu Tao T Khan Ranjha R Asim Ali A Shah Wasim W Zeb Aurang A Ahmad Nisar N Zhang Huan H Xu Bo B Ma Hui H Shi Qinghua Q Shi Baolu B

eLife 20250327

Asthenoteratozoospermia, a prevalent cause of male infertility, lacks a well-defined etiology. DNAH12 is a special dynein featured by the absence of a microtubule-binding domain, however, its functions in spermatogenesis remain largely unknown. Through comprehensive genetic analyses involving whole-exome sequencing and subsequent Sanger sequencing on infertile patients and fertile controls from six distinct families, we unveiled six biallelic mutations in <i>DNAH12</i> that co-segregate recessiv ...[more]

PMID: 40146200

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