Article
Obstetrics & Gynecology
Yang Zeng, Juanzi Shi, Shiru Xu, Rong Shi, Tonghua Wu, Hongyan Li, Xia Xue, Yuanchang Zhu, Biaobang Chen, Qing Sang, Lei Wang
Summary: Mutations in the MOS gene were found to be associated with female infertility characterized by preimplantation embryonic arrest. These mutations affect the protein levels and phosphorylation abilities of MOS, impacting human oocyte meiosis and embryonic development.
HUMAN REPRODUCTION
(2022)
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
Obstetrics & Gynecology
Lingli Huang, Fengsong Wang, Shuai Kong, Yu Wang, Gaojie Song, Fangting Lu, Jingjuan Ji, Lihua Luo, Xianhong Tong
Summary: This study identified two novel mutations in CDC20, expanding the mutation spectrum of this gene. Biallelic mutations in CDC20 occur in a proportion of infertile females with oocyte maturation abnormality and early embryonic arrest, as confirmed by the findings.
REPRODUCTIVE SCIENCES
(2021)
Article
Cell Biology
Yao Xu, Rongxiang Wang, Zhi Pang, Zhiyun Wei, Lihua Sun, Sa Li, Guanghua Wang, Yu Liu, Yiwen Zhou, Hongjuan Ye, Liping Jin, Songguo Xue
Summary: This study identified two novel homozygous variants of the PADI6 gene and further supported the causality between these mutations and female infertility, expanding the mutational spectrum of PADI6.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2022)
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
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
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)
Review
Genetics & Heredity
Wei Zheng, Huiling Hu, Shuoping Zhang, Xilin Xu, Yong Gao, Fei Gong, Guangxiu Lu, Ge Lin
Summary: TUBB8 gene is frequently analyzed in the genetic diagnosis of female infertility, and 102 variants of this gene have been identified. Through whole exome sequencing, 29 TUBB8 variants were identified in this study, including 20 novel ones. The study also provides evidence that TUBB8 variants with large polar bodies had chromosome segregation errors, expanding the spectrum of TUBB8 variants, particularly for embryonic arrest.
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
(2021)
Article
Genetics & Heredity
Xiaomei Tong, Jiamin Jin, Zhanhong Hu, Yingyi Zhang, Heng-Yu Fan, Yin-Li Zhang, Songying Zhang
Summary: This study found that compound heterozygous missense variants in the OOEP gene and novel NLRP5 variants are associated with recurrent preimplantation embryonic arrest. These mutations result in downregulated transcriptome and decreased protein levels in arrested embryos.
Article
Genetics & Heredity
Liwei Sun, Keya Tong, Weiwei Liu, Yin Tian, Sheng Yang, Danni Zhou, Dongyun Liu, Guoning Huang, Jingyu Li
Summary: This study describes the clinical and diagnostic phenotype of a female with unknown causes of infertility and identifies a pathogenic variant. A novel homozygous splice site variant of PATL2 was found to be responsible for the oocyte GV arrest phenotype and its molecular mechanism was elucidated.
FRONTIERS IN GENETICS
(2022)
Article
Nutrition & Dietetics
Xiaoqi Zhu, Xiang Hong, Jingying Wu, Fanqi Zhao, Wei Wang, Lingling Huang, Jiuming Li, Bei Wang
Summary: Using Mendelian randomization analysis, this study found a causal relationship between blood lipids, specifically LDL-cholesterol, and increased risk of female infertility.
Article
Genetics & Heredity
Juan Liu, Zongjian Tan, Jun He, Tingting Jin, Yuanyuan Han, Li Hu, Shengwen Huang
Summary: This study identified two novel homozygous mutations in the PADI6 and TLE6 genes associated with embryonic developmental arrest. The findings expand the mutational spectrum and deepen the understanding of genetic causes of infertility with recurrent ART failure.
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
(2021)
Article
Genetics & Heredity
Jian Han, Nana Zhang, Qiqi Cao, Xiaodan Shi, Congjing Wang, Ximan Rui, Jie Ding, Chun Zhao, Junqiang Zhang, Xiufeng Ling, Hong Li, Yichun Guan, Qingxia Meng, Ran Huo
Summary: Successful human reproduction requires normal oocyte maturation, fertilization, and early embryo development. NLRP7 variants were found to be associated with early embryo arrest, and this study identified five heterozygous variants of NLRP7 in infertile patients who experienced early embryo arrest. The study also demonstrated that NLRP7 variants can influence oocyte quality and early embryo development, providing a new genetic marker for clinical early embryo arrest patients.
JOURNAL OF MOLECULAR MEDICINE-JMM
(2023)
Article
Endocrinology & Metabolism
Qian Zhang, Chengqiu Tao, Shuchang Gao, Shan Li, Bingying Xu, Hanni Ke, Yiyang Wang, Feng Zhang, Yingying Qin, Ling Zhang, Ting Guo
Summary: A splicing site variant in KASH5 is responsible for POI due to defective meiotic homolog pairing and accelerated depletion of oocytes. Our study is the first to report the involvement of disorganized LINC complex in the pathogenesis of POI, potentially suggesting the essential roles of meiotic telomere attachment and dynein-driven proteins for chromosome movement in ovarian function maintenance.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Article
Genetics & Heredity
Guangyi Cao, Xiangyu Zhu, Yuling Lin, Junshun Fang, Xiaoyue Shen, Shanshan Wang, Na Kong
Summary: Repeated absence of useable embryos is a challenging issue in infertility patients, with embryonic developmental arrest being commonly observed but genetically unknown. In this study, the arrested embryonic development in a patient was thoroughly documented through photo-taking, and a homozygous PADI6(R132C) variant was identified through whole-exome sequencing. Analysis of conservativeness and structural impact of the variant provided further evidence for the crucial role of homozygous PADI6(R132C) variant in female infertility. This study contributes to a deeper understanding of the molecular genetic basis of female infertility.
FRONTIERS IN GENETICS
(2023)
Letter
Biochemistry & Molecular Biology
Shixiong Tian, Ziqi Wang, Liting Liu, Yiling Zhou, Yue Lv, Dongdong Tang, Jiaxiong Wang, Jing Jiang, Huan Wu, Shuyan Tang, Guanxiong Wang, Hao Geng, Fangbiao Tao, Hongbin Liu, Xiaojin He, Feng Zhang, Jinsong Li, Li Jin, Tao Huang, Chunyu Liu, Yunxia Cao
JOURNAL OF GENETICS AND GENOMICS
(2023)
Article
Dermatology
Qianqian Peng, Yu Liu, Anke Huels, Canfeng Zhang, Yao Yu, Wenqing Qiu, Xiyang Cai, Yuepu Zhao, Tamara Schikowski, Katja Merches, Yun Liu, Yajun Yang, Jiucun Wang, Yong Zhao, Li Jin, Liang Zhang, Jean Krutmann, Sijia Wang
Summary: Solar lentigines (SLs) are a common sign of aging skin caused by chronic exposure to sunlight and environmental stressors. Recent studies have suggested a possible genetic component, but the findings are inconsistent. Through a multi-trait analysis, researchers discovered that genetic variants in the telomerase reverse transcriptase gene are significantly associated with non-facial SLs in East Asian and Caucasian populations. These variants are also related to facial SLs but not other skin aging or pigmentation traits, highlighting a previously unrecognized role of telomerase reverse transcriptase in lentigines formation.
JOURNAL OF INVESTIGATIVE DERMATOLOGY
(2023)
Article
Genetics & Heredity
Shixiong Tian, Chaofeng Tu, Xiaojin He, Lanlan Meng, Jiaxiong Wang, Shuyan Tang, Yang Gao, Chunyu Liu, Huan Wu, Yiling Zhou, Mingrong Lv, Ge Lin, Li Jin, Yunxia Cao, Dongdong Tang, Feng Zhang, Yue-Qiu Tan
Summary: This study identified biallelic deleterious mutations of CFAP54 in three unrelated men with severe MMAF or NOA. These mutations were associated with abnormal sperm morphology, reduced sperm concentration and motility. Immunofluorescence assays showed reduced staining of four flagellar assembly-associated proteins in the spermatozoa of CFAP54-deficient men.
JOURNAL OF MEDICAL GENETICS
(2023)
Letter
Plant Sciences
Xiao-Min Yang, Hai-Liang Meng, Jian-Lin Zhang, Yao Yu, Edward Allen, Zi-Yang Xia, Kong-Yang Zhu, Pan-Xin Du, Xiao-Ying Ren, Jian-Xue Xiong, Xiao-Yu Lu, Yi Ding, Sheng Han, Wei-Peng Liu, Li Jin, Chuan-Chao Wang, Shao-Qing Wen
JOURNAL OF SYSTEMATICS AND EVOLUTION
(2023)
Article
Biochemistry & Molecular Biology
Hanni Ke, Shuyan Tang, Ting Guo, Dong Hou, Xue Jiao, Shan Li, Wei Luo, Bingying Xu, Shidou Zhao, Guangyu Li, Xiaoxi Zhang, Shuhua Xu, Lingbo Wang, Yanhua Wu, Jiucun Wang, Feng Zhang, Yingying Qin, Li Jin, Zi-Jiang Chen
Summary: Whole-exome sequencing in a cohort of 1,030 patients with POI identified new likely pathogenic variants and revealed different genetic architectures between primary and secondary amenorrhea. This study expands our understanding of the genetic landscape underlying POI and provides insights that have the potential to improve diagnostic genetic screenings.
Article
Genetics & Heredity
Ronggui Qu, Zhihua Zhang, Ling Wu, Qun Li, Jian Mu, Lin Zhao, Zheng Yan, Wenjing Wang, Yang Zeng, Ruyi Liu, Jie Dong, Qiaoli Li, Xiaoxi Sun, Lei Wang, Qing Sang, Biaobang Chen, Yanping Kuang
Summary: Variants in the androglobin (ADGB) gene were found to be associated with asthenozoospermia, leading to reduced sperm motility and concentration. The study also identified 42 candidate proteins involved in sperm assembly and motility, with CFAP69 and SPEF2 confirmed to interact with ADGB. These findings highlight the important role of ADGB in human fertility and provide a theoretical basis for using it as a genetic marker for infertile males.
Article
Environmental Sciences
Tongchao Zhang, Xiaolin Yin, Xiaorong Yang, Ziyu Yuan, Qiyun Wu, Li Jin, Xingdong Chen, Ming Lu, Weimin Ye
Summary: This study investigated the association between 12 trace elements and gastroesophageal cancers (GOC) using hair and fingernail samples collected from GOC cases and controls in Taixing, China. The results showed that higher levels of Ca, Zn, Fe, Al, Cr, Pb, Se, and V were positively associated with increased GOC, while higher levels of Mg, Mn, Sr, and As were inversely associated with GOC. Interaction effects between hair level of Cr and smoking or alcohol drinking were also observed.
JOURNAL OF EXPOSURE SCIENCE AND ENVIRONMENTAL EPIDEMIOLOGY
(2023)
Article
Multidisciplinary Sciences
Yang Gao, Xiaofei Yang, Hao Chen, Xinjiang Tan, Zhaoqing Yang, Lian Deng, Baonan Wang, Shuang Kong, Songyang Li, Yuhang Cui, Chang Lei, Yimin Wang, Yuwen Pan, Sen Ma, Hao Sun, Xiaohan Zhao, Yingbing Shi, Ziyi Yang, Dongdong Wu, Shaoyuan Wu, Xingming Zhao, Binyin Shi, Li Jin, Zhibin Hu, Yan Lu, Jiayou Chu, Kai Ye, Shuhua Xu
Summary: The data from the Chinese Pangenome Consortium's first phase reveals a substantial increase in the discovery of novel and missing sequences when individuals from underrepresented minority ethnic groups are included. The missing reference sequences contain archaic-derived alleles and genes related to keratinization, response to ultraviolet radiation, DNA repair, immunological responses, and lifespan, suggesting great potential for understanding human evolution and filling in missing heritability in complex diseases.
Article
Neurosciences
Jincheng Li, Sibo Zhu, Yingzhe Wang, Min Fan, Jiacheng Dai, Chengkai Zhu, Kelin Xu, Mei Cui, Chen Suo, Li Jin, Yanfeng Jiang, Xingdong Chen
Summary: By comparing the gut microbiota in a community-based cohort, it was found that bacteria capable of producing SCFAs were positively associated with better cognitive performance. In addition, specific bacterial strains were more abundant in individuals with MCI or CN groups and were correlated with cognitive performance.
NEUROBIOLOGY OF DISEASE
(2023)
Article
Chemistry, Applied
Junyu Luo, Qili Qian, Wenxin Zheng, Ieva Gripkauskaite, Sijie Wu, Min Zhang, Jinxi Li, Bingfei Fu, Ranjit Bhogal, Peter Murray, Matthew Rowson, Bin Li, Xiangyang Xue, Xuelan Gu, Yajun Yang, Li Jin, David Andrew Gunn, Sijia Wang
Summary: This study investigated the extent to which scalp hair parameters change with age in Chinese men and women. The number of hairs per follicular unit was found to have a negative correlation with age in both men and women. Men had a greater number of hairs and follicular units than women on average, but experienced a greater decrease in the number of hairs per follicular unit with age, particularly in multi-hair follicular units. Hair loss was not random across follicular units, and a higher number of hairs per follicular unit increased the risk of hair loss. The results suggest that the presence of multi-hair follicular units on the scalp contributes to the greater susceptibility of scalp hair to hair loss compared to other body sites.
INTERNATIONAL JOURNAL OF COSMETIC SCIENCE
(2023)
Editorial Material
Multidisciplinary Sciences
Yi Li, Meng Hao, Zixin Hu, Yanyun Ma, Kun Wang, Xiaoyu Liu, Xianhong Yin, Menghan Zhang, Yi Wang, Meng Liang, Yuan Guo, Lei Bao, Shixuan Zhang, Shiguan Le, Chenyuan Wu, Dayan Sun, Yang Wei, Fei Wu, Rui Zhang, Lingxian Zhu, Hui Zhang, Shuai Jiang, Xingdong Chen, Xiaofeng Wang, Yao Zhang, Longli Kang, Wenyuan Duan, Bin Qiao, Jiucun Wang, Li Jin
NATIONAL SCIENCE REVIEW
(2023)
Article
Multidisciplinary Sciences
Lin Zhao, Sabrina R. T. Koseki, Rachel A. Silverstein, Nadia Amrani, Christina Peng, Christian Kramme, Natasha Savic, Martin Pacesa, Tomas C. Rodriguez, Teodora Stan, Emma Tysinger, Lauren Hong, Vivian Yudistyra, Manvitha R. Ponnapati, Joseph M. Jacobson, George M. Church, Noah Jakimo, Ray Truant, Martin Jinek, Benjamin P. Kleinstiver, Erik J. Sontheimer, Pranam Chatterjee
Summary: In this study, a chimeric enzyme SpRYc with highly flexible PAM preference was generated by combining the PAM-interacting domain of SpRY and the N-terminus of Sc++, leveraging properties of both enzymes. SpRYc showed the ability to specifically edit diverse PAMs and disease-related loci, highlighting the power of integrative protein design for Cas9 engineering.
NATURE COMMUNICATIONS
(2023)
Article
Medicine, Research & Experimental
Wenjing Wang, Yoichi Miyamoto, Biaobang Chen, Juanzi Shi, Feiyang Diao, Wei Zheng, Qun Li, Lan Yu, Lin Li, Yao Xu, Ling Wu, Xiaoyan Mao, Jing Fu, Bin Li, Zheng Yan, Rong Shi, Xia Xue, Jian Mu, Zhihua Zhang, Tianyu Wu, Lin Zhao, Weijie Wang, Zhou Zhou, Jie Dong, Qiaoli Li, Li Jin, Lin He, Xiaoxi Sun, Ge Lin, Yanping Kuang, Lei Wang, Qing Sang
Summary: By analyzing whole-exome sequencing data of 606 women with PREMBA, researchers have identified a candidate gene KPNA7, which may contribute to the development of PREMBA. The study further revealed that KPNA7 mutations reduce protein levels, impair its binding capacity to substrate RSL1D1, and affect nuclear transport activity. Furthermore, the study found that mouse KPNA2 plays a critical role in embryonic development and its deficiency leads to embryo arrest, similar to human PREMBA cases. These findings provide a mechanistic understanding of PREMBA and a diagnostic marker for PREMBA patients.
JOURNAL OF CLINICAL INVESTIGATION
(2023)
Article
Biotechnology & Applied Microbiology
Qun Li, Lin Zhao, Yang Zeng, Yanping Kuang, Yichun Guan, Biaobang Chen, Shiru Xu, Bin Tang, Ling Wu, Xiaoyan Mao, Xiaoxi Sun, Juanzi Shi, Peng Xu, Feiyang Diao, Songguo Xue, Shihua Bao, Qingxia Meng, Ping Yuan, Wenjun Wang, Ning Ma, Di Song, Bei Xu, Jie Dong, Jian Mu, Zhihua Zhang, Huizhen Fan, Hao Gu, Qiaoli Li, Lin He, Li Jin, Lei Wang, Qing Sang
Summary: In this study, we investigated the role of de novo mutations (DNMs) in female infertility with oocyte and embryo defects. By analyzing the genetic mutations in 473 infertile parent-child trios, we identified 481 confident DNMs in 474 genes. These genes are enriched in signaling pathways related to female reproductive processes. Further functional assays showed that mutations in the TUBA4A gene disrupt normal cell and mouse reproductive development. These findings provide novel genetic insights into female infertility and offer potential genetic markers for the diagnosis of assisted reproductive technology failure.