Further Evidence from Supports Favorable Fertility Outcomes of Infertile Males with Dynein Axonemal Heavy Chain Gene Family Variants

Overview

Journal iScience

Publisher Cell Press

Date 2024 Jul 29

PMID 39071892

Authors

Hao Geng

Kai Wang

Dan Liang

Xiaoqing Ni

Hui Yu

Dongdong Tang

Mingrong Lv

Huan Wu

Kuokuo Li

Qunshan Shen

Yang Gao

Chuan Xu

Ping Zhou

Zhaolian Wei

Yunxia Cao

Yanwei Sha

Xiaoyu Yang

Xiaojin He

Affiliations

Soon will be listed here.

Abstract

Male infertility is a major concern affecting reproductive health. Biallelic deleterious variants of most DNAH gene family members have been linked to male infertility, with intracytoplasmic sperm injection (ICSI) being an efficacious way to achieve offspring. However, the association between and male infertility is still limited. Here, we identified one homozygous variant and two compound heterozygous variants in from three infertile Chinese men. Semen analysis revealed severe asthenozoospermia, abnormal morphology, and structure of sperm flagella. Furthermore, the knock-out mouse revealed severe spermatogenesis failure and validated the same male infertility phenotype. Favorable fertility outcomes were achieved through ICSI in three human individuals and knock-out mice. Collectively, our study indicated that biallelic variants of can induce male infertility in both human beings and mice. Notably, evidence from enhanced that ICSI was an optimal intervention to achieve favorable fertility outcomes for infertile males with DNAH gene family variants.

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