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Large-scale analysis of de novo mutations identifies risk genes for female infertility characterized by oocyte and early embryo defects

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收录情况： ◇ SCIE

作者：
Li, Qun[1,2] * ; Zhao, Lin[1] * ; Zeng, Yang[1] * ; Kuang, Yanping[3] * ; Guan, Yichun[4] * ; Chen, Biaobang[5] * ; Xu, Shiru[6] ; Tang, Bin[7] ; Wu, Ling[3] ; Mao, Xiaoyan[3] ; Sun, Xiaoxi[8] ; Shi, Juanzi[9] ; Xu, Peng[10] ; Diao, Feiyang[11] ; Xue, Songguo[12] ; Bao, Shihua[13] ; Meng, Qingxia[14] ; Yuan, Ping[15] ; Wang, Wenjun[15] ; Ma, Ning[16] ; Song, Di[17] ; Xu, Bei[18] ; Dong, Jie[1] ; Mu, Jian[1] ; Zhang, Zhihua[1] ; Fan, Huizhen[1] ; Gu, Hao[1] ; Li, Qiaoli[1] ; He, Lin[19] ; Jin, Li[20,21] ; Wang, Lei[1] ; Sang, Qing[1] ;
单位： [1]Fudan Univ, Childrens Hosp, Inst Biomed Sci, Inst Pediat,Shanghai Key Lab Med Epigenet,State Ke, Shanghai 200032, Peoples R China [2]Fudan Univ, Human Phenome Inst, Shanghai 200438, Peoples R China [3]Shanghai Jiao Tong Univ, Shanghai Hosp 9, Reprod Med Ctr, Shanghai 200011, Peoples R China [4]Zhengzhou Univ, Affiliated Hosp 3, Dept Reprod Med, Zhengzhou 450052, Peoples R China [5]Fudan Univ, Shanghai Inst Biomed & Pharmaceut Technol, NHC Key Lab Reprod Regulat, Shanghai 200032, Peoples R China [6]Shenzhen Zhongshan Urol Hosp, Fertil Ctr, Shenzhen 518001, Guangdong, Peoples R China [7]First Peoples Hosp Changde City, Reprod Med Ctr, Changde 415000, Peoples R China [8]Fudan Univ, Obstet & Gynecol Hosp, Shanghai Ji Ai Genet & IVF Inst, Shanghai 200011, Peoples R China [9]Northwest Womens & Childrens Hosp, Reprod Med Ctr, Xian 710000, Peoples R China [10]Hainan Jinghua Hejing Hosp Reprod Med, Haikou 570125, Peoples R China [11]Jiangsu Prov Hosp, Reprod Med Ctr, Nanjing 210036, Peoples R China [12]Tongji Univ, Shanghai East Hosp, Reprod Med Ctr, Sch Med, Shanghai, Peoples R China [13]Tongji Univ, Shanghai Matern & Infant Hosp 1, Sch Med, Dept Reprod Immunol, Shanghai 201204, Peoples R China [14]Nanjing Med Univ, Affiliated Suzhou Hosp, Ctr Reprod & Genet, Suzhou 215000, Peoples R China [15]Sun Yat Sen Univ, Sun Yat Sen Mem Hosp, IVF Ctr, Dept Obstet & Gynecol, Guangzhou 510120, Peoples R China [16]Maternal & Child Hlth Care Hosp Hainan Prov, Reprod Med Ctr, Haikou 570206, Hainan, Peoples R China [17]Naval Med Univ, Changhai Hosp, Shanghai, Peoples R China [18]Huazhong Univ Sci & Technol, Tongji Hosp, Tongji Med Coll, Reprod Med Ctr, Wuhan 430030, Peoples R China [19]Shanghai Jiao Tong Univ, Minist Educ, Bio X Ctr, Key Lab Genet Dev & Neuropsychiat Disorders, Shanghai 200030, Peoples R China [20]Fudan Univ, Sch Life Sci, State Key Lab Genet Engn, Shanghai 200438, Peoples R China [21]Fudan Univ, Sch Life Sci, Collaborat Innovat Ctr Genet & Dev, Shanghai 200438, Peoples R China
出处：
DOI： 10.1186/s13059-023-02894-0
ISSN：

关键词： Female infertility De novo mutations Reproductive pathways TUBA4A Microtubule stability

摘要：
BackgroundOocyte maturation arrest and early embryonic arrest are important reproductive phenotypes resulting in female infertility and cause the recurrent failure of assisted reproductive technology (ART). However, the genetic etiologies of these female infertility-related phenotypes are poorly understood. Previous studies have mainly focused on inherited mutations based on large pedigrees or consanguineous patients. However, the role of de novo mutations (DNMs) in these phenotypes remains to be elucidated.ResultsTo decipher the role of DNMs in ART failure and female infertility with oocyte and embryo defects, we explore the landscape of DNMs in 473 infertile parent-child trios and identify a set of 481 confident DNMs distributed in 474 genes. Gene ontology analysis reveals that the identified genes with DNMs are enriched in signaling pathways associated with female reproductive processes such as meiosis, embryonic development, and reproductive structure development. We perform functional assays on the effects of DNMs in a representative gene Tubulin Alpha 4a (TUBA4A), which shows the most significant enrichment of DNMs in the infertile parent-child trios. DNMs in TUBA4A disrupt the normal assembly of the microtubule network in HeLa cells, and microinjection of DNM TUBA4A cRNAs causes abnormalities in mouse oocyte maturation or embryo development, suggesting the pathogenic role of these DNMs in TUBA4A.ConclusionsOur findings suggest novel genetic insights that DNMs contribute to female infertility with oocyte and embryo defects. This study also provides potential genetic markers and facilitates the genetic diagnosis of recurrent ART failure and female infertility.

基金：
This work was supported by the National Natural Science Foundation of China (82288102), the National Key Research and Development Program of China (2021YFC2700100), the National Natural Science Foundation of China (32130029, 81725006, 82171643, 81971450, 81971382, 82071642, and 82001538), the Project of the Shanghai Municipal Science and Technology Commission (21XD1420300 and 19JC1411001), the Natural Science Foundation of Shanghai (19ZR1444500 and 21ZR1404800), the Capacity Building Planning Program for Shanghai Women and Children’s Health Service, the collaborative innovation center project construction for Shanghai Women and Children’s Health, and the Guangdong Science and Technology Department Guangdong/Hong Kong/Macao Joint Innovation Project (2020A0505140003).
语种：
外文
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中科院(CAS)分区：
出版当年[2022]版：
大类 | 1 区 生物学
小类 | 1 区 遗传学 1 区 生物工程与应用微生物
最新[2025]版：
大类 | 1 区 生物学
小类 | 1 区 生物工程与应用微生物 1 区 遗传学
JCR分区：
出版当年[2021]版：
Q1 BIOTECHNOLOGY & APPLIED MICROBIOLOGY Q1 GENETICS & HEREDITY
最新[2023]版：
Q1 BIOTECHNOLOGY & APPLIED MICROBIOLOGY Q1 GENETICS & HEREDITY

影响因子： 最新[2023版] 最新五年平均 出版当年[2021版] 出版当年五年平均 出版前一年[2020版] 出版后一年[2022版]

第一作者：
第一作者单位： [1]Fudan Univ, Childrens Hosp, Inst Biomed Sci, Inst Pediat,Shanghai Key Lab Med Epigenet,State Ke, Shanghai 200032, Peoples R China [2]Fudan Univ, Human Phenome Inst, Shanghai 200438, Peoples R China
共同第一作者：
通讯作者：
推荐引用方式(GB/T 7714)：
Li Qun,Zhao Lin,Zeng Yang,et al.Large-scale analysis of de novo mutations identifies risk genes for female infertility characterized by oocyte and early embryo defects[J].GENOME BIOLOGY.2023,24(1):doi:10.1186/s13059-023-02894-0.
APA：
Li, Qun,Zhao, Lin,Zeng, Yang,Kuang, Yanping,Guan, Yichun...&Sang, Qing.(2023).Large-scale analysis of de novo mutations identifies risk genes for female infertility characterized by oocyte and early embryo defects.GENOME BIOLOGY,24,(1)
MLA：
Li, Qun,et al."Large-scale analysis of de novo mutations identifies risk genes for female infertility characterized by oocyte and early embryo defects".GENOME BIOLOGY 24..1(2023)

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