Article
Cell Biology
Lin Zhao, Yichun Guan, Qingxia Meng, Weijie Wang, Ling Wu, Biaobang Chen, Jijun Hu, Jiawei Zhu, Zhihua Zhang, Jian Mu, Yao Chen, Yiming Sun, Tianyu Wu, Wenjing Wang, Zhou Zhou, Jie Dong, Yang Zeng, Ruyi Liu, Qiaoli Li, Jing Du, Yanping Kuang, Qing Sang, Lei Wang
Summary: Mutations in the CDC20 gene play a crucial role in oocyte maturation and fertilization, leading to various infertility phenotypes. This study expands the spectrum of known mutations in CDC20 and provides new evidence for its involvement in female infertility characterized by oocyte maturation arrest and fertilization failure.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Genetics & Heredity
Xiang Wang, Ruixi Zhou, Xiaowei Lu, Siyu Dai, Mohan Liu, Chuan Jiang, Yanting Yang, Ying Shen, Yan Wang, Hanmin Liu
Summary: This study identified mutations in the PABPC1L gene that are associated with oocyte maturation abnormalities and early embryonic arrest, highlighting the essential role of PABPC1L in human female fertility.
Article
Genetics & Heredity
Lingli Huang, Yu Wang, Fangting Lu, Qi Jin, Gaojie Song, Jingjuan Ji, Lihua Luo, Rentao Jin, Xianhong Tong
Summary: This study aimed to identify genetic causes of primary infertility in 12 women with oocyte maturation abnormality. Novel mutations in NLRP5 and PATL2 were found, expanding the mutational and phenotypic spectrum of both genes. The NLRP5 mutations associated with oocyte maturation abnormality in humans were reported for the first time.
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
(2022)
Article
Genetics & Heredity
Ping Yang, Changjian Yin, Mei Li, Shuiying Ma, Yongzhi Cao, Changming Zhang, Tailai Chen, Han Zhao
Summary: This study revealed a large number of variants of the TUBB8 gene in infertile females with oocyte or embryonic defects, broadening the mutational and phenotypic spectra of TUBB8 variants. The results further confirmed the critical role of TUBB8 in oocyte maturation, fertilization, and early embryonic development.
Article
Biology
Lingli Huang, Wenqing Li, Xingxing Dai, Shuai Zhao, Bo Xu, Fengsong Wang, Ren-Tao Jin, Lihua Luo, Limin Wu, Xue Jiang, Yu Cheng, Jiaqi Zou, Caoling Xu, Xianhong Tong, Heng-Yu Fan, Han Zhao, Jianqiang Bao
Summary: This study identified and characterized novel biallelic variants in MAD2L1BP responsible for oocyte maturation arrest at MI, providing new therapeutic avenues for female primary infertility.
Article
Obstetrics & Gynecology
Wenzhu Yu, Shaodi Zhang, Baoli Yin, Chang Dong, Victor Wei Zhang, Cuilian Zhang
Summary: TUBB8 is a disease-causing gene in female infertility, and this study identified novel heterozygous missense variants in TUBB8 gene in four families, expanding the mutational spectrum and confirming its diagnostic utility in female infertility.
REPRODUCTIVE SCIENCES
(2023)
Review
Biochemistry & Molecular Biology
Cai-feng Fei, Li-quan Zhou
Summary: Reproductive diseases, particularly infertility, are a widespread issue globally. The review highlights the impact of genetic mutations in various developmental regulators on infertility in young female patients. Categorizing these factors and comparing phenotypic differences between human and mouse models provide valuable insights for clinical diagnosis and treatment.
Article
Medicine, Research & Experimental
Weijie Wang, Jing Guo, Juanzi Shi, Qun Li, Biaobang Chen, Zhiqi Pan, Ronggui Qu, Jing Fu, Rong Shi, Xia Xue, Jian Mu, Zhihua Zhang, Tianyu Wu, Wenjing Wang, Lin Zhao, Qiaoli Li, Lin He, Xiaoxi Sun, Qing Sang, Ge Lin, Lei Wang
Summary: PABPC1L gene variants are responsible for female infertility characterized by oocyte maturation arrest. These variants result in truncated proteins, reduced abundance, altered localization, and decreased mRNA translational activation. PABPC1L plays an important role in human oocyte maturation and could be a potential candidate gene for infertility causes.
EMBO MOLECULAR MEDICINE
(2023)
Article
Obstetrics & Gynecology
Weijie Wang, Wenjing Wang, Yao Xu, Juanzi Shi, Jing Fu, Biaobang Chen, Jian Mu, Zhihua Zhang, Lin Zhao, Jing Lin, Jing Du, Qiaoli Li, Lin He, Li Jin, Xiaoxi Sun, Lei Wang, Qing Sang
Summary: This study identified three pathogenic variants in FBXO43 that are associated with early embryonic arrest in humans. By investigating the effects of these variants in cells and mouse oocytes, a causal relationship between FBXO43 and female infertility was established. These findings contribute to understanding the role of FBXO43 in human early embryonic development and provide a new genetic marker for female infertility.
HUMAN REPRODUCTION
(2021)
Article
Medicine, Research & Experimental
Yin-Li Zhang, Wei Zheng, Peipei Ren, Huiling Hu, Xiaomei Tong, Shuo-Ping Zhang, Xiang Li, Haichao Wang, Jun-Chao Jiang, Jiamin Jin, Weijie Yang, Lanrui Cao, Yuanlin He, Yerong Ma, Yingyi Zhang, Yifan Gu, Liang Hu, Keli Luo, Fei Gong, Guang-Xiu Lu, Ge Lin, Heng-Yu Fan, Songying Zhang
Summary: Rare MOS variants were identified in infertile females with EEAF, leading to decreased ERK phosphorylation and disruption of maternal mRNA clearance related to mitochondrial function. Inactivation of the MOS-ERK signaling pathway drives EEAF by impairing oocyte cytoplasmic maturation in humans as shown in mice models.
EMBO MOLECULAR MEDICINE
(2021)
Article
Genetics & Heredity
Qian Dou, HongEn Xu, LiYing Ma, Li Tan, WenXue Tang
Summary: TUBB8 is a protein expressed exclusively in the oocyte and early embryo, participating in microtubule assembly. This study reports two siblings with TUBB8 variants who showed different clinical features of primary infertility. The variant was found to be pathogenic and related to the phenotype in the patients.
BMC MEDICAL GENOMICS
(2023)
Article
Obstetrics & Gynecology
Parnaz Borjian Boroujeni, Kathleen Rooney, Mehdi Alikhani, Saman Rahmati, Ghazaleh Feli, Kaveh Haratian, Bahar Movaghar, Anahita Mohseni Meybodi
Summary: This study investigated TUBB8 gene variations in Iranian infertile women with oocyte maturation arrest or embryo cleavage arrest. Two likely pathogenic variants were identified in patients with oocyte maturation arrest and one likely pathogenic variant was identified in a patient with cleavage arrest. These variations were absent in the control group.
REPRODUCTIVE BIOMEDICINE ONLINE
(2023)
Article
Obstetrics & Gynecology
Antonio Capalbo, Silvia Buonaiuto, Matteo Figliuzzi, Gianluca Damaggio, Laura Girardi, Silvia Caroselli, Maurizio Poli, Cristina Patassini, Murat Cetinkaya, Beril Yuksel, Ajuna Azad, Marie Louise Grondahl, Eva R. Hoffmann, Carlos Simon, Vincenza Colonna, Semra Kahraman
Summary: This study identified new and known genes associated with infertility through case selection and whole-exome sequencing analysis, providing important clues for further research.
REPRODUCTIVE BIOMEDICINE ONLINE
(2022)
Article
Genetics & Heredity
Yu Wang, Mingfei Xiang, Zhaojuan Yu, Yan Hao, Qianhua Xu, Shuai Kong, Fengsong Wang, Xuanming Shi, Gaojie Song, Yunxia Cao, Lingli Huang, Fuxi Zhu
Summary: A homozygous missense mutation (c.895T>C; p.C299R) in TBPL2 was identified in two infertile sisters from a consanguineous family, impairing the transcription initiation function of the protein. The rare and pathogenic TBPL2 mutation may be associated with female infertility due to oocyte maturation arrest and degeneration.
Article
Reproductive Biology
Zhongyuan Yao, Jun Zeng, Huimin Zhu, Jing Zhao, Xiaoxia Wang, Qiuping Xia, Yanping Li, Lingqian Wu
Summary: This study identified novel mutations in the TUBB8 gene and their prevalence, which may interfere with human oocyte maturation and result in infertility.
JOURNAL OF OVARIAN RESEARCH
(2022)