title: Preferential Y-Y pairing and synapsis and abnormal meiotic recombination in a 47,XYY man with non obstructive azoospermia.
abstract: BACKGROUND
  Men with 47, XYY syndrome are presented with varying physical attributes and degrees of infertility. Little information has been documented regarding the meiotic progression in patients with extra Y chromosome along with the synapses and recombination between the two Y chromosomes.
  
  
  METHODS
  Spermatocyte spreading and immunostaining were applied to study the behavior of the extra Y chromosome during meiosis I in an azoospermia patient with 47, XYY syndrome and results were compared with five healthy controls with proven fertility.
  
  
  RESULTS
  The extra Y chromosome was present in all the studied spermatocytes of the patient and preferentially paired and synapsed with the other Y chromosome. Consistently, gamma-H2AX staining completely disappeared from the synapsed regions of Y chromosomes. More interestingly, besides recombination on short arms, recombination on the long arms of Y chromosomes was also observed. No pairing and synapsis defects between homologous autosomes were detected, while significantly reduced recombination frequencies on autosomes were observed in the patient. The meiotic prophase I progression was disturbed with significantly increased proportion of leptotene, zygotene cells and decreased pachytene spermatocytes in the patient when compared with the controls.
  
  
  CONCLUSIONS
  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 extra Y chromosome in mammalian meiosis and fertility.
authors.affiliation: The Reproductive Medicine Center, Clinical College of People's Liberation Army Affiliated to Anhui Medical University, Hefei, Anhui China.|The Reproductive Medicine Center, 105 Hospital of People's Liberation Army, Hefei, Anhui China.
authors.forename: Caiyun
authors.initials: C
authors.lastname: Wu
authors.affiliation: Molecular and Cell Genetics Laboratory, The CAS Key Laboratory of Innate Immunity and Chronic Diseases, Hefei National Laboratory for Physical Sciences at Microscale, School of Life Sciences, University of Science and Technology of China, Hefei, Anhui 230027 China.|Collaborative Innovation Center of Genetics and Development, Fudan University, Shanghai, 200438 China.
authors.forename: Liu
authors.initials: L
authors.lastname: Wang
authors.affiliation: Molecular and Cell Genetics Laboratory, The CAS Key Laboratory of Innate Immunity and Chronic Diseases, Hefei National Laboratory for Physical Sciences at Microscale, School of Life Sciences, University of Science and Technology of China, Hefei, Anhui 230027 China.|Institute of Pure and Applied Biology, Bahauddin Zakariya University, Multan, 60800 Pakistan.
authors.forename: Furhan
authors.initials: F
authors.lastname: Iqbal
authors.affiliation: Molecular and Cell Genetics Laboratory, The CAS Key Laboratory of Innate Immunity and Chronic Diseases, Hefei National Laboratory for Physical Sciences at Microscale, School of Life Sciences, University of Science and Technology of China, Hefei, Anhui 230027 China.|Collaborative Innovation Center of Genetics and Development, Fudan University, Shanghai, 200438 China.
authors.forename: Xiaohua
authors.initials: X
authors.lastname: Jiang
authors.affiliation: Molecular and Cell Genetics Laboratory, The CAS Key Laboratory of Innate Immunity and Chronic Diseases, Hefei National Laboratory for Physical Sciences at Microscale, School of Life Sciences, University of Science and Technology of China, Hefei, Anhui 230027 China.|Collaborative Innovation Center of Genetics and Development, Fudan University, Shanghai, 200438 China.
authors.forename: Ihtisham
authors.initials: I
authors.lastname: Bukhari
authors.affiliation: Center for Reproductive Medicine, Anhui Medical University, Affiliated Provincial Hospital, Hefei, China.
authors.forename: Tonghang
authors.initials: T
authors.lastname: Guo
authors.affiliation: Anhui Provincial Family Planning Institute of Science and Technology, Hefei, China.
authors.forename: Gengxin
authors.initials: G
authors.lastname: Yin
authors.affiliation: Molecular and Cell Genetics Laboratory, The CAS Key Laboratory of Innate Immunity and Chronic Diseases, Hefei National Laboratory for Physical Sciences at Microscale, School of Life Sciences, University of Science and Technology of China, Hefei, Anhui 230027 China.|Collaborative Innovation Center of Genetics and Development, Fudan University, Shanghai, 200438 China.
authors.forename: Howard J
authors.initials: HJ
authors.lastname: Cooke
authors.affiliation: The Reproductive Medicine Center, 105 Hospital of People's Liberation Army, Hefei, Anhui China.
authors.forename: Zhenyi
authors.initials: Z
authors.lastname: Cao
authors.affiliation: The Reproductive Medicine Center, Clinical College of People's Liberation Army Affiliated to Anhui Medical University, Hefei, Anhui China.|The Reproductive Medicine Center, 105 Hospital of People's Liberation Army, Hefei, Anhui China.
authors.forename: Hong
authors.initials: H
authors.lastname: Jiang
authors.affiliation: Molecular and Cell Genetics Laboratory, The CAS Key Laboratory of Innate Immunity and Chronic Diseases, Hefei National Laboratory for Physical Sciences at Microscale, School of Life Sciences, University of Science and Technology of China, Hefei, Anhui 230027 China.|Collaborative Innovation Center of Genetics and Development, Fudan University, Shanghai, 200438 China.
authors.forename: Qinghua
authors.initials: Q
authors.lastname: Shi
keywords: Meiosis; Meiotic sex chromosome inactivation (MSCI); Sex chromosomes; XYY syndrome
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