Article
Biochemistry & Molecular Biology
Xiaopei Zhou, Qingsong Xi, Weimin Jia, Zhou Li, Zhenxing Liu, Geng Luo, Chenxi Xing, Dazhi Zhang, Meiqi Hou, Huihui Liu, Xue Yang, Yalin Luo, Xuejie Peng, Guihua Wang, Tingting Zou, Lixia Zhu, Lei Jin, Xianqin Zhang
Summary: Male infertility is a global public health problem with complex pathogenic causes. Through whole-exome sequencing, we identified a novel homozygous missense mutation in the ACTL7A gene in two infertile brothers with teratozoospermia. In vitro fertilization and intracytoplasmic sperm injection showed fertilization failure, and further analysis revealed irregular perinuclear theca (PT) and acrosomal ultrastructural defects in the sperm of these patients. The mutation also caused abnormal localization and reduced expression of PLCZ1, which may contribute to the fertilization failure. This study expands the understanding of ACTL7A mutations and provides a basis for genetic counseling.
MOLECULAR GENETICS AND GENOMICS
(2023)
Article
Cell Biology
Haixia Chen, Peng Li, Xiaoling Du, Yiding Zhao, Lingling Wang, Ye Tian, Xueru Song, Ling Shuai, Xiaohong Bai, Lingyi Chen
Summary: Mutation in the SEPTIN12 gene is associated with male infertility. Male mice with Septin12 knockout are infertile and have abnormal sperm, but fertility can be restored with artificial oocyte activation. Loss of PLC zeta might be the reason for failed fertilization in Septin12-deficient sperm.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2022)
Article
Endocrinology & Metabolism
Svetlana A. Yatsenko, Fatih Gurbuz, Ali Kemal Topaloglu, Andrea J. Berman, Pierre-Marie Martin, Marta Rodrigue-Escriba, Yingying Qin, Aleksandar Rajkovic
Summary: This study identified pathogenic variants in the ZSWIM7 gene associated with primary ovarian insufficiency (POI), highlighting the importance of this gene in DNA damage response during meiosis and its role in ovarian development and function. Characterization of patients with defects in DNA repair genes has important diagnostic and prognostic consequences for clinical management and reproductive decisions.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Article
Genetics & Heredity
Jiangshan Cong, Xiong Wang, Amir Amiri-Yekta, Lingbo Wang, Zine-Eddine Kherraf, Chunyu Liu, Caroline Cazin, Shuyan Tang, Seyedeh Hanieh Hosseini, Shixiong Tian, Abbas Daneshipour, Jiaxiong Wang, Yiling Zhou, Yuyan Zeng, Shenmin Yang, Xiaojin He, Jinsong Li, Yunxia Cao, Li Jin, Pierre F. Ray, Feng Zhang
Summary: This study identified CCDC34 gene as a key player in III male asthenozoospermia, and through genetic analysis and cell experiments on the samples, revealed the importance of the CCDC34 gene in sperm flagella morphology.
JOURNAL OF MEDICAL GENETICS
(2022)
Article
Cell Biology
Lanlan Meng, Qiang Liu, Chen Tan, Xilin Xu, Wenbin He, Tongyao Hu, Chaofeng Tu, Yong Li, Juan Du, Qianjun Zhang, Guangxiu Lu, Li-Qing Fan, Ge Lin, Hongchuan Nie, Huan Zhang, Yue-Qiu Tan
Summary: Male infertility due to asthenoteratozoospermia is caused by homozygous variants in the TTC12 gene, leading to defects in the dynein arm complex and mitochondrial sheath malformations in the flagellar. This study identified three novel homozygous TTC12 variants in a large cohort of infertile Chinese males with asthenoteratozoospermia. Assisted reproduction technique therapy using intracytoplasmic sperm injection (ICSI) successfully resulted in healthy babies for two couples.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2023)
Article
Genetics & Heredity
Shuai Zhao, Ying Cui, Shunli Guo, Boyang Liu, Yuehong Bian, Shigang Zhao, Zijiang Chen, Han Zhao
Summary: In this study, novel biallelic variants in the paternal-effect genes ACTL7A and PLCZ1 were identified, expanding the spectrum of genetic causes and facilitating the genetic diagnosis of male infertility with total fertilization failure (TFF).
Article
Genetics & Heredity
Beibei Zhang, Ihsan Khan, Chunyu Liu, Ao Ma, Asad Khan, Yuanwei Zhang, Huan Zhang, Mian Basit Shah Kakakhel, Jianteng Zhou, Wen Zhang, Yang Li, Asim Ali, Xiaohua Jiang, Ghulam Murtaza, Ranjha Khan, Muhammad Zubair, Limin Yuan, Mazhar Khan, Li Wang, Feng Zhang, Xiong Wang, Hui Ma, Qinghua Shi
Summary: Variants in the DNAH17 gene are associated with Multiple morphological abnormalities of the flagella (MMAF), leading to loss of DNAH17 proteins and disorganized axonemal structure in sperm flagella. This study provides direct evidence in both humans and mice, highlighting the essential role of DNAH17 in spermatogenesis.
Article
Genetics & Heredity
Tongyao Hu, Lanlan Meng, Chen Tan, Chen Luo, Wen-Bin He, Chaofeng Tu, Huan Zhang, Juan Du, Hongchuan Nie, Guang-Xiu Lu, Ge Lin, Yue-Qiu Tan
Summary: This study identified CFAP61 variants as a genetic cause of male infertility with OAT; this finding was confirmed through animal experiments and clinical treatment.
JOURNAL OF MEDICAL GENETICS
(2023)
Article
Developmental Biology
Weili Wang, Lanlan Meng, Jiaxin He, Lilan Su, Yong Li, Chen Tan, Xilin Xu, Hongchuan Nie, Huan Zhang, Juan Du, Guangxiu Lu, Mengcheng Luo, Ge Lin, Chaofeng Tu, Yue-Qiu Tan
Summary: Meiosis is a crucial process for gametogenesis and fertility, and meiotic recombination plays a significant role in ensuring accurate chromosome segregation and generating genetic diversity. Researchers have discovered that SHOC1 gene mutations have a strong clinical relevance to patients with non-obstructive azoospermia (NOA), shedding light on the mechanistic understanding of SHOC1 during meiotic recombination.
MOLECULAR HUMAN REPRODUCTION
(2022)
Article
Biochemistry & Molecular Biology
Xiaopei Zhou, Zhenxing Liu, Weimin Jia, Meiqi Hou, Xianqin Zhang
Summary: This study investigates the mechanisms underlying the effects of Actl7a gene knockout on sperm acrosome formation, male infertility, and sperm-zona pellucida binding ability during fertilization. The findings suggest that Actl7a deficiency leads to malformed sperm acrosomes, male infertility, and impaired sperm-ZP binding ability. Furthermore, abnormal localization and expression of the PLCZ1 protein in misshapen sperm are identified, resulting in reduced calcium oscillations in oocytes.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
(2022)
Article
Biochemistry & Molecular Biology
Huiwen Cao, Haomang Xu, Yiqing Zhou, Wei Xu, Qinglin Lu, Lingying Jiang, Yan Rong, Qianting Zhang, Chao Yu
Summary: BBOF1 plays a crucial role in maintaining the integrity and function of the sperm flagellum through its interaction with ODF2 and MNS1 proteins. It is expressed exclusively in male germ cells and is required for sperm motility and male fertility. It has the potential to be a novel candidate gene for diagnosing asthenozoospermia.
CELLULAR AND MOLECULAR LIFE SCIENCES
(2023)
Article
Biochemistry & Molecular Biology
Weijie Wang, Ronggui Qu, Qian Dou, Fengyan Wu, Wenjing Wang, Biaobang Chen, Jian Mu, Zhihua Zhang, Lin Zhao, Zhou Zhou, Jie Dong, Yang Zeng, Ruyi Liu, Jing Du, Shujia Zhu, Qiaoli Li, Lin He, Li Jin, Lei Wang, Qing Sang
Summary: This study identified two novel homozygous missense variants in PANX1 associated with the oocyte death phenotype, expanding the inheritance pattern of PANX1 variants to an autosomal recessive mode. The destructive effect of these homozygous variants on PANX1 function was weaker than that of previously reported heterozygous variants, highlighting the critical role of PANX1 in human oocyte development.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2021)
Article
Andrology
Meng Wang, Juepu Zhou, Rui Long, Huizi Jin, Limin Gao, Lixia Zhu, Lei Jin
Summary: This study investigates the genetic causes of male-related fertilization failure. Mutations in the ACTL7A gene were found to be responsible for fertilization failure and male infertility.
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
Jing Wang, Jintao Zhang, Xueping Sun, Yuting Lin, Lingbo Cai, Yugui Cui, Jiayin Liu, Mingxi Liu, Xiaoyu Yang
Summary: The study identified novel compound heterozygous variants in ACTL7A as a genetic factor for human TFF and successfully rescued TFF through AOA.
HUMAN REPRODUCTION
(2021)
Article
Genetics & Heredity
Qianqian Sha, Wei Zheng, Xie Feng, Ruiying Yuan, Huiling Hu, Fei Gong, Liang Hu, Ge Lin, Xianghong Ou
Summary: Mutations in TUBB8 gene may lead to the formation of MPN, resulting in infertility cases. These new findings may be helpful for genetic counseling of infertile patients with MPN.
Article
Genetics & Heredity
Dehua Cheng, Liang Hu, Fei Gong, Shimin Yuan, Keli Luo, Xianhong Wu, Pingyuan Xie, Changfu Lu, Guangxiu Lu, Yue-Qiu Tan, Ge Lin
Summary: This study evaluated the clinical outcomes of ABCR carrier couples undergoing the MicroSeq-PGT technique, showing its powerful ability to distinguish between carrier and non-carrier balanced embryos. The study involved 762 ABCR carrier couples and demonstrated successful transfer of both carrier and normal embryos, resulting in healthy babies with no developmental issues.
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
(2021)
Article
Physiology
Mengge Li, Yaxing Ji, Dongmei Wang, Yanliang Zhang, Huan Zhang, Yi Tang, Ge Lin, Liang Hu
Summary: This study investigated the efficiency of Raman spectroscopy in detecting sperm chromosome balance state by analyzing DNA content differences. The results showed that different regions of sperm have different chemical components and DNA content, allowing for preliminary classification based on DNA content. X sperm were found to have significantly higher DNA backbone peaks and regional peaks compared to Y sperm, confirming the different sperm types.
FRONTIERS IN PHYSIOLOGY
(2022)
Correction
Oncology
Chunyu Zhang, Li Fu, Jianhua Fu, Liang Hu, Hong Yang, Tie-Hua Rong, Yan Li, Haibo Liu, Song-Bin Fu, Yi-Xin Zeng, Xin-Yuan Guan
CLINICAL CANCER RESEARCH
(2022)
Article
Multidisciplinary Sciences
Jian Li, Jinhua Shen, Xiaoli Zhang, Yangqin Peng, Qin Zhang, Liang Hu, Christoph Reichetzeder, Suimin Zeng, Jing Li, Mei Tian, Fei Gong, Ge Lin, Berthold Hocher
Summary: In vitro fertilization/intracytoplasmic sperm injection (IVF/ICSI) is associated with an increased risk of preterm and early preterm birth. Older or younger maternal age, multiple pregnancy, placenta previa, and embryo reduction are independent risk factors for preterm birth and early preterm birth. Gestational hypertension, elevated triglycerides, and shorter activated partial thromboplastin time are only associated with preterm birth. Only embryo reduction represents an IVF/ICSI-specific risk factor.
SCIENTIFIC REPORTS
(2022)
Article
Genetics & Heredity
Pingyuan Xie, Liang Hu, Yangqin Peng, Yue-qiu Tan, Keli Luo, Fei Gong, Guangxiu Lu, Ge Lin
Summary: This study analyzed factors influencing meiotic segregation patterns in blastocysts for reciprocal translocation carriers. The results showed that an increase in TAR1 was associated with an increase in alternate segregation, while female sex and involvement of an acrocentric chromosome reduced the proportion of alternate segregation. These findings are important for providing more appropriate genetic counseling to couples regarding their chances of producing normal/balanced blastocysts.
FRONTIERS IN GENETICS
(2022)
Article
Medicine, General & Internal
Jin Huang, Li Rong, Lin Zeng, Liang Hu, Juanzi Shi, Liyi Cai, Bing Yao, Xiu-Xia Wang, Yanwen Xu, Yuanqing Yao, Yan Wang, Junzhao Zhao, Yichun Guan, Weiping Qian, Guimin Hao, Sijia Lu, Ping Liu, Jie Qiao
Summary: This study aims to evaluate the non-invasive genetic testing method for embryonic aneuploidy and determine its clinical effectiveness in evaluating embryos.
Article
Genetics & Heredity
Pingyuan Xie, Ping Liu, Shuoping Zhang, Dehua Cheng, Dayang Chen, Yue-Qiu Tan, Liang Hu, Yong Qiu, Shuang Zhou, Qi Ou-Yang, Keli Luo, Guangxiu Lu, Shaohong Zhang, Fei Gong, Ge Lin
Summary: This study investigated the spectrum and characteristics of segmental aneuploidies (SAs) of 10 Mb length in human preimplantation blastocysts. The results showed that 1 to 10 Mb SAs are common in blastocysts, and some of them have potential pathogenicity. Inheritance pattern analysis and clinical interpretation contribute to determining the pathogenic or likely pathogenic SAs.
GENETICS IN MEDICINE
(2022)
Article
Obstetrics & Gynecology
Pingyuan Xie, Xiao Hu, Lingyin Kong, Yan Mao, Dehua Cheng, Kai Kang, Jing Dai, Dingding Zhao, Yi Zhang, Naru Lu, Zhenxing Wan, Renqian Du, Bo Xiong, Jun Zhang, Yueqiu Tan, Guangxiu Lu, Fei Gong, Ge Lin, Bo Liang, Juan Du, Liang Hu
Summary: A multifunctional haplotyping-based preimplantation genetic testing platform was provided for detecting different genetic conditions.
HUMAN REPRODUCTION
(2022)
Article
Genetics & Heredity
Keya Tong, Wenbin He, Yao He, Xiurong Li, Liang Hu, Hao Hu, Guangxiu Lu, Ge Lin, Chang Dong, Victor Wei Zhang, Juan Du, Dongyun Liu
Summary: Medical exome sequencing was used to identify carrier spectrum in the Chinese population, showing that 94.5% of individuals carried at least one disease-causing variant. This study highlights the importance of Expanded Carrier Screening in identifying at-risk couples.
FRONTIERS IN GENETICS
(2022)
Article
Genetics & Heredity
Tongyuan Dang, Pingyuan Xie, Zhiqi Zhang, Liang Hu, Yi Tang, Yueqiu Tan, Keli Luo, Fei Gong, Guangxiu Lu, Ge Lin
Summary: This study analyzed the factors influencing segregation and ploidy results in Robertsonian carriers and found that the segregation patterns were influenced by the carrier's sex and independent of their age. Additionally, advanced maternal age decreased the likelihood of obtaining normal/balanced embryos, and Robertsonian translocation chromosomes increased the possibility of chromosome mosaic during blastocyst mitosis.
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
(2023)
Article
Genetics & Heredity
Shuoping Zhang, Pingyuan Xie, Fang Lan, Yaxin Yao, Shujuan Ma, Liang Hu, Yueqiu Tan, Bo Jiang, Anqi Wan, Dunmei Zhao, Fei Gong, Sijia Lu, Ge Lin
Summary: This study aimed to investigate the feasibility of applying conventional in vitro fertilization (cIVF) for couples undergoing preimplantation genetic testing for aneuploidies (PGT-A) with non-male factor infertility. The results showed that under the Picoplex and ChromInst protocols, sperm DNA failed to amplify, but could be amplified using multiple displacement amplification (MDA). The study concluded that applying cIVF to couples with non-male factor infertility undergoing PGT-A is feasible.
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
(2023)
Article
Andrology
Yuze Pi, Zhuo Huang, Xilin Xu, Huan Zhang, Miao Jin, Shuoping Zhang, Ge Lin, Liang Hu
Summary: This study found that patients' sperm mitochondrial DNA was more likely to carry pathogenic variants or variants of unknown significance and had higher heteroplasmy levels. Some patients lacked unique variants in their sperm but had exceptionally high mtDNA copy numbers. The heteroplasmy level of common mtDNA variants decreased, while a large number of novel mtDNA variants with low-level heteroplasmy emerged in sperm.
Article
Cell & Tissue Engineering
XiangWang Xu, JunRu Chen, Hao Zhao, YuZe Pi, Ge Lin, Liang Hu
Summary: This study used single-cell RNA sequencing to investigate the transcriptional landscape of a high-efficiency hESC-EC induction system. The FLI1-PKC induction system can differentiate hESCs into mature endothelial cells with all requisite functions, possibly due to the elevated number of activated transcription factors.
STEM CELL REVIEWS AND REPORTS
(2023)
