样本编号	SAMC4400459
外部数据库编号	GSA-Human: HRS1462515
样品名称	D19DNA
样本标题	IQUB mutation propositus
样品类型	Human sample
物种名称	Homo sapiens
描述信息	propositus
样本属性	*该样本包含更多受控访问信息，请通过GSA-Human系统申请项目HRA009362数据获取。
发布日期	2024-11-22
项目编号	PRJCA011671
提交者	Guoning Huang (gnhuang217@sina.com)
提交单位	Chongqing Health Center for Women and Children
提交日期	2024-11-22

样本包含数据信息

资源名称	描述
GSA-Human (1)	-
HRA009362 (Controlled Access)	Asthenozoospermia (ASZ) accounts for about 20%-40% of male infertility, and its related genetic factors still need further exploration. Radial spokes (RSs, RS1-3), as a T-shaped macromolecular complex, connect the peripheral doublets of microtubule (DMTs) to a central pair (CP), forming a CP-RS-DMT structure to regulate the beat frequency and amplitude of sperm flagella. In this study, we identified a novel homozygous IQUB mutation [c.842del (p.L281Pfs*28)] in an ASZ male with normal sperm morphology (ANM), which resulted in the complete loss of IQUB in sperm flagella. Deficiency of RS1, but not RS2 or RS3, was observed in both IQUB842del patient and Iqub-/- mice, and resulted in the reduction of sperm kinetic parameters, indicating that mammalian IQUB is critical for the RS1 assembly and sperm flagellar beat. Finally, intracytoplasmic sperm injection (ICSI) can effectively resolve the male infertility caused by IQUB genetic defects.

资源名称

描述

GSA-Human (1)

HRA009362 (Controlled Access)

Asthenozoospermia (ASZ) accounts for about 20%-40% of male infertility, and its related genetic factors still need further exploration. Radial spokes (RSs, RS1-3), as a T-shaped macromolecular complex, connect the peripheral doublets of microtubule (DMTs) to a central pair (CP), forming a CP-RS-DMT structure to regulate the beat frequency and amplitude of sperm flagella. In this study, we identified a novel homozygous IQUB mutation [c.842del (p.L281Pfs*28)] in an ASZ male with normal sperm morphology (ANM), which resulted in the complete loss of IQUB in sperm flagella. Deficiency of RS1, but not RS2 or RS3, was observed in both IQUB842del patient and Iqub-/- mice, and resulted in the reduction of sperm kinetic parameters, indicating that mammalian IQUB is critical for the RS1 assembly and sperm flagellar beat. Finally, intracytoplasmic sperm injection (ICSI) can effectively resolve the male infertility caused by IQUB genetic defects.