| 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; Zhang, XG; Yuan, GP; Pei, X; Cai, KL; Hu, FY; Sun, JF; Yan, LZ; Tang, L; Jiang, C; Tu, WL; Xu, JY; Wu, HJ; Kong, WQ; Li, SY; Wang, K; Sheng, K; Zhao, XD; Yue, HX; Yang, XY; Xu, WM
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| 2019
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| 发表期刊 | NATURE COMMUNICATIONS
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| ISSN | 2041-1723
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| 卷号 | 10 |
| 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. |
| 收录类别 | SCIE
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| 语种 | 英语
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| 文献类型 | 期刊论文
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| 条目标识符 | http://ir.kiz.ac.cn/handle/152453/12597
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| 专题 | 科研部门_肿瘤干细胞生物学（赵旭东）
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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.
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| 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.
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| 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).
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