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Whole-Exome Sequencing of a Large Chinese Azoospermia and Severe Oligospermia Cohort Identifies Novel Infertility Causative Variants and Genes.

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WOS体系：
Pubmed体系：

收录情况： ◇ SCIE

作者：
Chen Shitao[1] * ; Wang Guishuan[2] * ; Zheng Xiaoguo[1] ; Ge Shunna[1] ; Dai Yubing[1] ; Ping Ping[3] ; Chen Xiangfeng[3] ; Liu Guihua[4] ; Zhang Jing[4] ; Yang Yang[5] ; Zhang Xinzong[6] ; Zhong An[6] ; Zhu Yongtong[7] ; Chu Qingjun[7] ; Huang Yonghan[8] ; Zhang Yong[9] ; Shen Changli[10] ; Yuan Yiming[11] ; Yuan Qilong[12] ; Pei Xiuying[13] ; Cheng C Yan[14] ; Sun Fei[1,2,*1] ;
机构： [1]International Peace Maternity and Child Health Hospital, Shanghai Key Laboratory for Reproductive Medicine, School of Medicine, Shanghai Jiaotong University, Shanghai, 200030, China. [2]Institute of Reproductive Medicine, School of Medicine, Nantong University, Nantong, 226001, China. [3]Department of Urology, Shanghai Human Sperm Bank, Renji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, 200120, China. [4]Department of Andrology, Reproductive Medicine Research Center, the Sixth Affiliated Hospital of Sun Yat-sen University, Guangzhou, 510655, China. [5]Department of Reproduction, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing, 100026, China. [6]Key Laboratory of Male Reproduction and Genetics, National Health and Family Planning Commission, Family Planning Research Institute of Guangdong Province, Guangzhou, 510031, China. [7]Department of Obstetrics and Gynecology, Reproductive Medicine Center, Nanfang Hospital, Southern Medical University, Guangzhou, 510515, China. [8]The First People's Hospital of Foshan, Sun Yat-sen University, Foshan, 528000, China. [9]Center of Assisted Reproductive Medicine, the Sixth Medical Center of PLA General Hospital, Beijing, 100083, China. [10]Reproductive Center, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou, 510120, China. [11]Peking University First Hospital Andrology Center &amp [12]Urology Department, Beijing, 100034, China. [12]Guangdong Province Hospital of Chinese Medicine, Guangzhou, 510140, China. [13]Key Laboratory of Fertility Preservation and Maintenance of Ministry of Education, School of Basic Medicine, Ningxia Medical University, Yinchuan, 750004, China. [14]The Mary M. Wohlford Laboratory for Male Contraceptive Research, Center for Biomedical Research, Population Council, New York, 10065, USA.
出处：
DOI： 10.1093/hmg/ddaa101
ISSN：

摘要：
Rare coding variants have been proven to be one of the significant factors contributing to spermatogenic failure in patients with non-obstructive azoospermia (NOA) and severe oligospermia (SO). To delineate the molecular characteristics of idiopathic NOA and SO, we performed whole-exome sequencing (WES) of 314 unrelated patients of Chinese Han origin and verified our findings by comparing to 400 fertile controls. We detected 6 pathogenic/likely pathogenic variants and 4 variants of unknown significance, in genes known to cause NOA/SO, and 9 of which had not been earlier reported. Additionally, we identified 20 novel NOA candidate genes affecting 25 patients. Among them, five (BRDT, CHD5, MCM9, MLH3 and ZFX) were considered as strong candidates based on the evidence obtained from murine functional studies and human single-cell (sc)RNA-sequencing data. These genetic findings provide insight into the aetiology of human NOA/SO and pave the way for further functional analysis and molecular diagnosis of male infertility. © The Author(s) 2020. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

基金：
National Key R&D Program of China [2018YFC1003500 to F.S.] and the National Natural Science Foundation of China [81430027 and 81671510 to F.S.].
语种：
外文
被引次数：
WOS：
PubmedID：
中科院(CAS)分区：
出版当年[2019]版：
大类 | 2 区 生物
小类 | 2 区 生化与分子生物学 2 区 遗传学
最新[2025]版：
大类 | 2 区 生物学
小类 | 3 区 生化与分子生物学 3 区 遗传学
JCR分区：
出版当年[2018]版：
Q1 BIOCHEMISTRY & MOLECULAR BIOLOGY Q1 GENETICS & HEREDITY
最新[2023]版：
Q2 GENETICS & HEREDITY Q3 BIOCHEMISTRY & MOLECULAR BIOLOGY

影响因子： 最新[2023版] 最新五年平均 出版当年[2018版] 出版当年五年平均 出版前一年[2017版] 出版后一年[2019版]

第一作者：
第一作者机构： [1]International Peace Maternity and Child Health Hospital, Shanghai Key Laboratory for Reproductive Medicine, School of Medicine, Shanghai Jiaotong University, Shanghai, 200030, China.
共同第一作者：
通讯作者：
通讯机构： [1]International Peace Maternity and Child Health Hospital, Shanghai Key Laboratory for Reproductive Medicine, School of Medicine, Shanghai Jiaotong University, Shanghai, 200030, China. [2]Institute of Reproductive Medicine, School of Medicine, Nantong University, Nantong, 226001, China. [*1]145 Guangyuan Road, Xuhui District, Shanghai, China
推荐引用方式(GB/T 7714)：
Chen Shitao,Wang Guishuan,Zheng Xiaoguo,et al.Whole-Exome Sequencing of a Large Chinese Azoospermia and Severe Oligospermia Cohort Identifies Novel Infertility Causative Variants and Genes.[J].HUMAN MOLECULAR GENETICS.2020,29(14):2451-2459.doi:10.1093/hmg/ddaa101.
APA：
Chen Shitao,Wang Guishuan,Zheng Xiaoguo,Ge Shunna,Dai Yubing...&Sun Fei.(2020).Whole-Exome Sequencing of a Large Chinese Azoospermia and Severe Oligospermia Cohort Identifies Novel Infertility Causative Variants and Genes..HUMAN MOLECULAR GENETICS,29,(14)
MLA：
Chen Shitao,et al."Whole-Exome Sequencing of a Large Chinese Azoospermia and Severe Oligospermia Cohort Identifies Novel Infertility Causative Variants and Genes.".HUMAN MOLECULAR GENETICS 29..14(2020):2451-2459

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