Review
Cell Biology
Yan Huang, Ignasi Roig
Summary: Meiosis is a highly specialized cell division process that is crucial for sexual reproduction by generating haploid gametes. It involves complex chromosomal dynamics and meiotic recombination, which ensure accurate homolog segregation and genetic diversity in offspring. Surveillance mechanisms monitor these events to prevent errors that could lead to aneuploidy and infertility. Research in mouse models and genomic technologies has enhanced our understanding of meiotic control and its implications for mammalian infertility. This review summarizes the genetic regulations of meiosis and the potential diagnostic value for human infertility based on studies in mice.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2023)
Article
Genetics & Heredity
Barbora Valiskova, Sona Gregorova, Diana Lustyk, Petr Simecek, Petr Jansa, Jiri Forejt
Summary: Hybrid sterility prevents gene flow between related taxa and Prdm9 is the only known hybrid male sterility gene in vertebrates. It determines the recombination sites and synapsis of homologous chromosomes in early meiotic prophase. The study shows that Prdm9 also plays a major role in hybrid male sterility in different chromosomal compositions, and its expression is influenced by chromosomal components.
Article
Genetics & Heredity
Shoaib Nawaz, Muhammad Imran Ullah, Beenish Samreen Hamid, Jalwa Nargis, Mehboob Nawaz, Shabir Hussain, Wasim Ahmad
Summary: The study investigated a large consanguineous family of Pakistani origin segregating male infertility in an autosomal recessive manner, identifying a loss-of-function homozygous variant in the MLH3 gene as the cause of severe oligozoospermia leading to male infertility. Previous studies have shown an association between infertility and gene knockout in mice.
JOURNAL OF HUMAN GENETICS
(2021)
Article
Genetics & Heredity
Junwei Xu, Yifan Sun, Yuxiang Zhang, Ningjing Ou, Haowei Bai, Jingpeng Zhao, Shuai Xu, Jiaqiang Luo, Sha Han, Peng Li, Ruhui Tian, Erlei Zhi, Yuhua Huang, Jing Zhang, Gang Liu, Zheng Li, Chencheng Yao
Summary: This study found that mutations in the SYCP2 gene are associated with non-obstructive azoospermia (NOA), and these mutations can lead to meiotic arrest and NOA. The patient inherited the mutation from heterozygous parental carriers through natural reproduction. The study also revealed that SYCP2 is inherited in an autosomal recessive pattern and expanded our knowledge of variants in SYCP2, providing new insights into the genetic etiology of NOA.
Article
Endocrinology & Metabolism
Jian Song, Yanwei Sha, Xiaojun Liu, Xuhui Zeng, Xiuling Zhao
Summary: Non-obstructive azoospermia (NOA) affects 10% of infertile men worldwide, and genetic studies have discovered several monogenic mutations responsible for idiopathic NOA cases. This study identified three novel TEX11 mutations in NOA patients and found histological abnormalities in the testicular biopsy specimens. These findings expand the understanding of NOA genetic variants and highlight the importance of TEX11 screening for clinical diagnosis of azoospermia patients.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Cell Biology
Jingjing Zhang, Xinli Zhou, Danyang Wan, Li Yu, Xu Chen, Tong Yan, Zhu Wu, Meimei Zheng, Feng Zhu, Hui Zhu
Summary: TMPRSS12 is expressed in the testis and plays multiple roles in male reproduction, including regulating meiosis, mitochondrial development, and sperm functions such as capacitation, acrosome reaction, and sperm-egg interaction.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2022)
Review
Cell Biology
Yinuo Li, Yue Zhang, Mingxi Liu
Summary: The piRNA pathway plays a crucial role in spermatogenesis, with most knockout animals showing meiotic arrest. Future research may clarify the function of piRNA factors in spermatids. Furthermore, recent studies in hamsters have revealed species differences in the function of piRNA, particularly in female germ cells.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Cell & Tissue Engineering
Haiying Wang, Linlin Liu, Chang Liu, Lingling Wang, Jiyu Chen, Huasong Wang, Dai Heng, Ming Zeng, Chun Liu, Zhongcheng Zhou, Xiaoying Ye, Yajuan Wan, Huiyu Li, Lin Liu
Summary: The combination of Vitamin C and AM580 can induce female embryonic stem cells to differentiate into embryonic gonadal somatic cell-like cells, promoting meiosis progression and folliculogenesis. This approach has implications in studying germ cell and follicle development and potentially treating female infertility.
STEM CELL RESEARCH & THERAPY
(2021)
Article
Medicine, General & Internal
L. Nagirnaja, N. Morup, J. E. Nielsen, R. Stakaitis, I. Golubickaite, M. S. Oud, S. B. Winge, F. Carvalho, K. I. Aston, F. Khani, G. W. van der Heijden, C. J. Marques, N. E. Skakkebaek, E. Rajpert-De Meyts, P. N. Schlegel, N. Jorgensen, J. A. Veltman, A. M. Lopes, D. F. Conrad, K. Almstrup
Summary: Four men of Middle Eastern descent with nonobstructive azoospermia were found to carry mutations in the PNLDC1 gene, leading to abnormal meiosis and spermatogenesis. Testicular histologic findings showed errors in meiosis and spermatogenic arrest in these men, indicating a direct mechanistic effect of faulty piRNA processing on male infertility.
NEW ENGLAND JOURNAL OF MEDICINE
(2021)
Article
Obstetrics & Gynecology
Li Li, Ye Xia, Yang Yang, Wuwen Zhang, Hua Yan, Ping Yin, Kai Li, Yuanyuan Chen, Lu Lu, Guoqing Tong
Summary: CDC26 plays a key role in human oocyte aging, as its lack can disrupt the maturation process and lead to oocyte aging. The study suggests that overexpression of CDC26 can partially rescue the defects in aged oocytes.
HUMAN REPRODUCTION
(2021)
Article
Reproductive Biology
Xiangyan Dai, Xinkai Cheng, Jianfei Huang, Yanping Gao, Deshou Wang, Zhi Feng, Gang Zhai, Qiyong Lou, Jiangyan He, Zhijian Wang, Zhan Yin
Summary: Our study demonstrates the crucial role of Rbm46 in zebrafish reproduction, showing that disruption of Rbm46 leads to masculinization and infertility by impairing germ cell progression through meiosis prophase I. Rbm46 may be involved in posttranscriptional regulation of key genes essential for germ cell development during gametogenesis.
BIOLOGY OF REPRODUCTION
(2021)
Review
Cell Biology
Elena Llano, Alberto M. Pendas
Summary: The synaptonemal complex (SC) forms during meiosis I and is involved in the synapses of homologous chromosomes, repair of double-strand breaks (DSBs), and formation of crossovers (COs). Defects in SC assembly or meiotic recombination machinery can cause meiotic arrest and infertility. Many proteins involved in these processes are meiosis-specific, but some also have roles in somatic DNA repair and are associated with cancer development.
Article
Endocrinology & Metabolism
Peng Li, Zhiyong Ji, Erlei Zhi, Yuxiang Zhang, Sha Han, Liangyu Zhao, Ruhui Tian, Huixing Chen, Yuhua Huang, Jing Zhang, Huirong Chen, Fujun Zhao, Zhi Zhou, Zheng Li, Chencheng Yao
Summary: We identified six novel MSH4 mutations responsible for meiotic arrest and NOA. These results provide researchers with a new insight to understand the genetic etiology of NOA and to identify new loci for genetic counselling of NOA.
REPRODUCTIVE BIOLOGY AND ENDOCRINOLOGY
(2022)
Review
Genetics & Heredity
Mashiat Rabbani, Xianing Zheng, Gabe L. Manske, Alexander Vargo, Adrienne N. Shami, Jun Z. Li, Saher Sue Hammoud
Summary: Advancements in single-cell RNA sequencing technology have improved our understanding of cell type diversity and molecular signatures during spermatogenesis. These studies are crucial for investigating the causes of infertility and developing new therapeutic interventions.
ANNUAL REVIEW OF GENETICS
(2022)
Article
Oncology
Yang Wang, Wen-Yi Gao, Li-Li Wang, Ruo-Lei Wang, Zhi-Xia Yang, Fu-Qiang Luo, Yu-Hao He, Zi-Bin Wang, Fu-Qiang Wang, Qing-Yuan Sun, Jing Li, Dong Zhang
Summary: This study revealed that knockout of the FBXW24 gene in female mice significantly affected fertility, follicle reserve, oocyte quality, meiotic prophase progression of female germ cells, and oocyte meiosis primarily by regulating the stability of SYCP3, ultimately leading to oocyte death and infertility.
CLINICAL AND TRANSLATIONAL MEDICINE
(2022)