Loss-of-function mutations in QRICH2 cause male infertility with multiple morphological abnormalities of the sperm flagella

CORC > 昆明动物研究所 > 昆明动物研究所 > 动物模型与人类重大疾病机理重点实验室 > 肿瘤干细胞生物学

	Loss-of-function mutations in QRICH2 cause male infertility with multiple morphological abnormalities of the sperm flagella
	Shen, Y; Zhang, F; Li, FP; Jiang, XH; Yang, YH; Li, XL; Li, WY; Wang, X; Cheng, J; Liu, MH
刊名	NATURE COMMUNICATIONS
	2019
卷号	10
ISSN号	2041-1723
英文摘要	Aberrant sperm flagella impair sperm motility and cause male infertility, yet the genes which have been identified in multiple morphological abnormalities of the flagella (MMAF) can only explain the pathogenic mechanisms of MMAF in a small number of cases. Here, we identify and functionally characterize homozygous loss-of-function mutations of QRICH2 in two infertile males with MMAF from two consanguineous families. Remarkably, Qrich2 knock-out ( KO) male mice constructed by CRISPR-Cas9 technology present MMAF phenotypes and sterility. To elucidate the mechanisms of Qrich2 functioning in sperm flagellar formation, we perform proteomic analysis on the testes of KO and wild-type mice. Furthermore, in vitro experiments indicate that QRICH2 is involved in sperm flagellar development through stabilizing and enhancing the expression of proteins related to flagellar development. Our findings strongly suggest that the genetic mutations of human QRICH2 can lead to male infertility with MMAF and that QRICH2 is essential for sperm flagellar formation.
语种	英语
内容类型	期刊论文
源URL	[http://ir.kiz.ac.cn:8080/handle/152453/12597]
专题	昆明动物研究所_肿瘤干细胞生物学
推荐引用方式 GB/T 7714	Shen, Y,Zhang, F,Li, FP,et al. Loss-of-function mutations in QRICH2 cause male infertility with multiple morphological abnormalities of the sperm flagella[J]. NATURE COMMUNICATIONS,2019,10.
APA	Shen, Y.,Zhang, F.,Li, FP.,Jiang, XH.,Yang, YH.,...&Xu, WM.(2019).Loss-of-function mutations in QRICH2 cause male infertility with multiple morphological abnormalities of the sperm flagella.NATURE COMMUNICATIONS,10.
MLA	Shen, Y,et al."Loss-of-function mutations in QRICH2 cause male infertility with multiple morphological abnormalities of the sperm flagella".NATURE COMMUNICATIONS 10(2019).