caa a22 4500 606190678 CHVBK 20210128100856.0 cr unu---uuuuu 210128e20150601xx s 000 0 eng 10.1007/s10577-015-9465-9 doi (NATIONALLICENCE)springer-10.1007/s10577-015-9465-9 Decreased XY recombination and disturbed meiotic prophase I progression in an infertile 48, XYY, +sSMC man [Elektronische Daten] [Liu Wang, Zhipeng Xu, Furhan Iqbal, Liangwen Zhong, Yuanwei Zhang, Caiyun Wu, Guixiang Zhou, Hanwei Jiang, Ihtisham Bukhari, Howard Cooke, Qinghua Shi] 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. Springer Science+Business Media Dordrecht, 2015 Small supernumerary marker chromosome (sSMC) nationallicence XYY nationallicence Chromosome aberration nationallicence Meiosis nationallicence Human male infertility nationallicence sSMC : Small supernumerary marker chromosome nationallicence SCs : Synaptonemal complexes nationallicence SD : Standard deviation nationallicence DSBs : Double-strand breaks nationallicence SB : Sex body nationallicence MSCI : Meiotic sex chromosome inactivation nationallicence Wang Liu 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, 230027, Hefei, Anhui, China aut Xu Zhipeng Reproductive Medicine Center, Drum Tower Hospital Affiliated to Nanjing University Medical College, 210008, Nanjing, Jiangsu, China aut Iqbal Furhan 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, 230027, Hefei, Anhui, China aut Zhong Liangwen 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, 230027, Hefei, Anhui, China aut Zhang Yuanwei 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, 230027, Hefei, Anhui, China aut Wu Caiyun The 105th Hospital of PLA Affiliated Anhui Medical University, 230031, Hefei, China aut Zhou Guixiang Center for Reproductive Medicine, Anhui Medical University Affiliated Provincial Hospital, 230061, Hefei, China aut Jiang Hanwei 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, 230027, Hefei, Anhui, China aut Bukhari Ihtisham 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, 230027, Hefei, Anhui, China aut Cooke Howard MRC Human Genetics Unit and Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK aut Shi Qinghua 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, 230027, Hefei, Anhui, China aut Chromosome Research Springer Netherlands 23/2(2015-06-01), 267-276 0967-3849 23:2<267 2015 23 10577 https://doi.org/10.1007/s10577-015-9465-9 text/html Onlinezugriff via DOI BK010053 XK010053 XK010000 Metadata rights reserved Springer special CC-BY-NC licence nationallicence 1 research-article jats NATIONALLICENCE NATIONALLICENCE NL-springer NATIONALLICENCE 856 40 https://doi.org/10.1007/s10577-015-9465-9 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Wang Liu 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, 230027, Hefei, Anhui, China aut NATIONALLICENCE 700 1- Xu Zhipeng Reproductive Medicine Center, Drum Tower Hospital Affiliated to Nanjing University Medical College, 210008, Nanjing, Jiangsu, China aut NATIONALLICENCE 700 1- Iqbal Furhan 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, 230027, Hefei, Anhui, China aut NATIONALLICENCE 700 1- Zhong Liangwen 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, 230027, Hefei, Anhui, China aut NATIONALLICENCE 700 1- Zhang Yuanwei 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, 230027, Hefei, Anhui, China aut NATIONALLICENCE 700 1- Wu Caiyun The 105th Hospital of PLA Affiliated Anhui Medical University, 230031, Hefei, China aut NATIONALLICENCE 700 1- Zhou Guixiang Center for Reproductive Medicine, Anhui Medical University Affiliated Provincial Hospital, 230061, Hefei, China aut NATIONALLICENCE 700 1- Jiang Hanwei 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, 230027, Hefei, Anhui, China aut NATIONALLICENCE 700 1- Bukhari Ihtisham 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, 230027, Hefei, Anhui, China aut NATIONALLICENCE 700 1- Cooke Howard MRC Human Genetics Unit and Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK aut NATIONALLICENCE 700 1- Shi Qinghua 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, 230027, Hefei, Anhui, China aut NATIONALLICENCE 773 0- Chromosome Research Springer Netherlands 23/2(2015-06-01), 267-276 0967-3849 23:2<267 2015 23 10577