Decreased XY recombination and disturbed meiotic prophase I progression in an infertile 48, XYY, +sSMC man

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• 作者：Liu Wang ; Zhipeng Xu ; Furhan Iqbal ; Liangwen Zhong ; Yuanwei Zhang…
• 关键词：Small supernumerary marker chromosome (sSMC) ; XYY ; Chromosome aberration ; Meiosis ; Human male infertility
• 刊名：Chromosome Research
• 出版年：2015
• 出版时间：June 2015
• 年：2015
• 卷：23
• 期：2
• 页码：267-276
• 全文大小：5,166 KB
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• 作者单位：Liu Wang (1)
  Zhipeng Xu (2)
  Furhan Iqbal (1) (3)
  Liangwen Zhong (1)
  Yuanwei Zhang (1)
  Caiyun Wu (4)
  Guixiang Zhou (5)
  Hanwei Jiang (1)
  Ihtisham Bukhari (1)
  Howard J. Cooke (6)
  Qinghua Shi (1)
  
  1. Laboratory of Molecular and Cell Genetics, The CAS Key Laboratory of Innate Immunity and Chronic Disease, Hefei National Laboratory for Physical Sciences at Microscale and School of Life Sciences, University of Science and Technology of China, Hefei, Anhui, 230027, China
  2. Reproductive Medicine Center, Drum Tower Hospital Affiliated to Nanjing University Medical College, Nanjing, Jiangsu, 210008, China
  3. Institute of Pure and Applied Biology, Zoology Division, Bahauddin Zakariya University, Multan, 60800, Pakistan
  4. The 105th Hospital of PLA Affiliated Anhui Medical University, Hefei, 230031, China
  5. Center for Reproductive Medicine, Anhui Medical University Affiliated Provincial Hospital, Hefei, 230061, China
  6. MRC Human Genetics Unit and Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK
  
• 刊物类别：Biomedical and Life Sciences
• 刊物主题：Life Sciences
  Cell Biology
  Human Genetics
  Animal Genetics and Genomics
  Plant Genetics and Genomics
  
• 出版者：Springer Netherlands
• ISSN：1573-6849

文摘

Small supernumerary marker chromosomes (sSMCs) are structurally abnormal rare chromosomes, difficult to characterize by karyotyping, and have been associated with minor dysmorphic features, azoospermia, and recurrent miscarriages. However, sSMC with a gonosomal trisomy has never been reported. Spermatocyte spreading and immunostaining were applied to detect meiotic prophase I progression, homologous chromosome pairing, synapsis, and recombination. In all the analyzed spermatocytes of the patient, the extra Y chromosome was not detected while the sSMC was present. The recombination frequency on autosomes was not affected, while the recombination frequencies on XY chromosome was significantly lower in the patient than in the controls. The meiotic prophase I progression was disturbed with significantly increased proportion of zygotene and decreased pachytene spermatocytes in the patients as compared with the controls. These findings highlight the importance of studies on meiotic behaviors in patients with an abnormal chromosomal constitution and provide an important framework for future studies, which may elucidate the impairment caused by sSMC in mammalian meiosis and fertility.