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ADGB variants cause asthenozoospermia and male infertility.
Qu, Ronggui; Zhang, Zhihua; Wu, Ling; Li, Qun; Mu, Jian; Zhao, Lin; Yan, Zheng; Wang, Wenjing; Zeng, Yang; Liu, Ruyi; Dong, Jie; Li, Qiaoli; Sun, Xiaoxi; Wang, Lei; Sang, Qing; Chen, Biaobang; Kuang, Yanping.
Afiliação
  • Qu R; The Institutes of Biomedical Sciences, the State Key Laboratory of Genetic Engineering and the Institute of Pediatrics, Children's Hospital of Fudan University, Fudan University, Shanghai, 200032, China.
  • Zhang Z; The Institutes of Biomedical Sciences, the State Key Laboratory of Genetic Engineering and the Institute of Pediatrics, Children's Hospital of Fudan University, Fudan University, Shanghai, 200032, China.
  • Wu L; Department of Assisted Reproduction, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200011, China.
  • Li Q; The Institutes of Biomedical Sciences, the State Key Laboratory of Genetic Engineering and the Institute of Pediatrics, Children's Hospital of Fudan University, Fudan University, Shanghai, 200032, China.
  • Mu J; The Institutes of Biomedical Sciences, the State Key Laboratory of Genetic Engineering and the Institute of Pediatrics, Children's Hospital of Fudan University, Fudan University, Shanghai, 200032, China.
  • Zhao L; The Institutes of Biomedical Sciences, the State Key Laboratory of Genetic Engineering and the Institute of Pediatrics, Children's Hospital of Fudan University, Fudan University, Shanghai, 200032, China.
  • Yan Z; Department of Assisted Reproduction, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200011, China.
  • Wang W; The Institutes of Biomedical Sciences, the State Key Laboratory of Genetic Engineering and the Institute of Pediatrics, Children's Hospital of Fudan University, Fudan University, Shanghai, 200032, China.
  • Zeng Y; The Institutes of Biomedical Sciences, the State Key Laboratory of Genetic Engineering and the Institute of Pediatrics, Children's Hospital of Fudan University, Fudan University, Shanghai, 200032, China.
  • Liu R; The Institutes of Biomedical Sciences, the State Key Laboratory of Genetic Engineering and the Institute of Pediatrics, Children's Hospital of Fudan University, Fudan University, Shanghai, 200032, China.
  • Dong J; The Institutes of Biomedical Sciences, the State Key Laboratory of Genetic Engineering and the Institute of Pediatrics, Children's Hospital of Fudan University, Fudan University, Shanghai, 200032, China.
  • Li Q; The Institutes of Biomedical Sciences, the State Key Laboratory of Genetic Engineering and the Institute of Pediatrics, Children's Hospital of Fudan University, Fudan University, Shanghai, 200032, China.
  • Sun X; Shanghai Ji Ai Genetics and IVF Institute, Obstetrics and Gynecology Hospital, Fudan University, Shanghai, 200011, China.
  • Wang L; The Institutes of Biomedical Sciences, the State Key Laboratory of Genetic Engineering and the Institute of Pediatrics, Children's Hospital of Fudan University, Fudan University, Shanghai, 200032, China.
  • Sang Q; The Institutes of Biomedical Sciences, the State Key Laboratory of Genetic Engineering and the Institute of Pediatrics, Children's Hospital of Fudan University, Fudan University, Shanghai, 200032, China. sangqing@fudan.edu.cn.
  • Chen B; NHC Key Lab of Reproduction Regulation (Shanghai Institute for Biomedical and Pharmaceutical Technologies), Fudan University, Shanghai, 200032, China. chenbiaobang@163.com.
  • Kuang Y; Department of Assisted Reproduction, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200011, China. kuangyanp@126.com.
Hum Genet ; 142(6): 735-748, 2023 Jun.
Article em En | MEDLINE | ID: mdl-36995441
Asthenozoospermia is one of the main factors leading to male infertility, but the genetic mechanisms have not been fully elucidated. Variants in the androglobin (ADGB) gene were identified in an infertile male characterized by asthenozoospermia. The variants disrupted the binding of ADGB to calmodulin. Adgb-/- male mice were infertile due to reduced sperm concentration (< 1 × 106 /mL) and motility. Spermatogenesis was also abnormal, with malformation of both elongating and elongated spermatids, and there was an approximately twofold increase in apoptotic cells in the cauda epididymis. These exacerbated the decline in sperm motility. It is surprising that ICSI with testicular spermatids allows fertilization and eventually develops into blastocyst. Through mass spectrometry, we identified 42 candidate proteins that are involved in sperm assembly, flagella formation, and sperm motility interacting with ADGB. In particular, CFAP69 and SPEF2 were confirmed to bind to ADGB. Collectively, our study suggests the potential important role of ADGB in human fertility, revealing its relevance to spermatogenesis and infertility. This expands our knowledge of the genetic causes of asthenozoospermia and provides a theoretical basis for using ADGB as an underlying genetic marker for infertile males.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Astenozoospermia / Infertilidade Masculina Tipo de estudo: Prognostic_studies Limite: Animals / Humans / Male Idioma: En Revista: Hum Genet Ano de publicação: 2023 Tipo de documento: Article País de afiliação: China
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Astenozoospermia / Infertilidade Masculina Tipo de estudo: Prognostic_studies Limite: Animals / Humans / Male Idioma: En Revista: Hum Genet Ano de publicação: 2023 Tipo de documento: Article País de afiliação: China