Preferential Y-Y pairing and synapsis and abnormal meiotic recombination in a 47,XYY man with non obstructive azoospermia

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• 作者：Caiyun Wu ; Liu Wang ; Furhan Iqbal ; Xiaohua Jiang…
• 关键词：Sex chromosomes ; Meiosis ; Meiotic sex chromosome inactivation (MSCI) ; XYY syndrome
• 刊名：Molecular Cytogenetics
• 出版年：2016
• 出版时间：December 2016
• 年：2016
• 卷：9
• 期：1
• 全文大小：2,054 KB
• 参考文献：1.Gekas J, Thepot F, Turleau C, Siffroi JP, Dadoune JP, Briault S, et al. Chromosomal factors of infertility in candidate couples for ICSI: an equal risk of constitutional aberrations in women and men. Hum Reprod. 2001;16:82–90.
  2.Rives N, Milazzo JP, Miraux L, North MO, Sibert L, Mace B. From spermatocytes to spermatozoa in an infertile XYY male. Int J Androl. 2005;28:304–10.
  3.Shi Q, Martin RH. Aneuploidy in human spermatozoa: FISH analysis in men with constitutional chromosomal abnormalities, and in infertile men. Reproduction. 2001;121:655–66.CrossRef PubMed
  4.Morel F, Roux C, Bresson JL. Sex chromosome aneuploidies in sperm of 47,XYY men. Arch Androl. 1999;43:27–36.CrossRef PubMed
  5.Shi Q, Spriggs E, Field LL, Ko E, Barclay L, Martin RH. Single sperm typing demonstrates that reduced recombination is associated with the production of aneuploid 24,XY human sperm. Am J Med Genet. 2001;99:34–8.
  6.Stochholm K, Juul S, Gravholt CH. Diagnosis and mortality in 47,XYY persons: a registry study. Orphanet J Rare Dis. 2010;5:15.PubMedCentral CrossRef PubMed
  7.Speed RM, Faed MJW, Batstone PJ, Baxby K, Barnetson W. Persistence of 2 Y-Chromosomes through Meiotic Prophase and Metaphase-I in an Xyy Man. Hum Genet. 1991;87:416–20.CrossRef PubMed
  8.Blanco J, Rubio C, Simon C, Egozcue J, Vidal F. Increased incidence of disomic sperm nuclei in a 47,XYY male assessed by fluorescent in situ hybridization (FISH). Hum Genet. 1997;99:413–6.CrossRef PubMed
  9.Chevret E, Rousseaux S, Monteil M, Usson Y, Cozzi J, Pelletier R, et al. Meiotic behaviour of sex chromosomes investigated by three-colour FISH on 35,142 sperm nuclei from two 47,XYY males. Hum Genet. 1997;99:407–12.
  10.Lim AS, Fong Y, Yu SL. Analysis of the sex chromosome constitution of sperm in men with a 47, XYY mosaic karyotype by fluorescence in situ hybridization. Fertil Steril. 1999;72:121–3.CrossRef PubMed
  11.Gonzalez-Merino E, Hans C, Abramowicz M, Englert Y, Emiliani S. Aneuploidy study in sperm and preimplantation embryos from nonmosaic 47,XYY men. Fertil Steril. 2007;88:600–6.CrossRef PubMed
  12.Wong EC, Ferguson KA, Chow V, Ma S. Sperm aneuploidy and meiotic sex chromosome configurations in an infertile XYY male. Hum Reprod. 2008;23:374–8.CrossRef PubMed
  13.Shi Q, Martin RH. Multicolor fluorescence in situ hybridization analysis of meiotic chromosome segregation in a 47,XYY male and a review of the literature. Am J Med Genet. 2000;93:40–6.CrossRef PubMed
  14.Egozcue S, Blanco J, Vendrell JM, Garcia F, Veiga A, Aran B, et al. Human male infertility: chromosome anomalies, meiotic disorders, abnormal spermatozoa and recurrent abortion. Hum Reprod Update. 2000;6:93–105.
  15.Moretti E, Anichini C, Sartini B, Collodel G. Sperm ultrastructure and meiotic segregation in an infertile 47, XYY man. Andrologia. 2007;39:229–34.CrossRef PubMed
  16.Abdel-Razic MM, Abdel-Hamid IA, ElSobky ES. Nonmosaic 47, XYY syndrome presenting with male infertility: case series. Andrologia. 2012;44:200–4.CrossRef PubMed
  17.Jiang H, Wang L, Cui Y, Xu Z, Guo T, Cheng D, et al. Meiotic chromosome behavior in a human male t(8;15) carrier. J Genet Genomics. 2014;41:177–85.
  18.Pan ZZ, Yang QL, Ye N, Wang L, Li JH, Yu D, et al. Complex relationship between meiotic recombination frequency and autosomal synaptonemal complex length per cell in normal human males. Am J Med Genet A. 2012;158A:581–7.
  19.Turner JM, Mahadevaiah SK, Fernandez-Capetillo O, Nussenzweig A, Xu X, Burgoyne PS. Silencing of unsynapsed meiotic chromosomes in the mouse. Nat Genet. 2005;37:41–7.
  20.Mahadevaiah SK, Turner JM, Baudat F, Rogakou EP, de Boer P, Blanco-Rodríguez J, et al. Recombinational DNA double-strand breaks in mice precede synapsis. Nat Genet. 2001;27:271–6.
  21.El-Dahtory F, Elsheikha HM. Male infertility related to an aberrant karyotype, 47,XYY: four case reports. Cases J. 2009;2:28.PubMedCentral CrossRef PubMed
  22.Blanco J, Egozcue J, Vidal F. Meiotic behaviour of the sex chromosomes in three patients with sex chromosome anomalies (47,XXY, mosaic 46,XY/47,XXY and 47,XYY) assessed by fluorescence in-situ hybridization. Hum Reprod. 2001;16:887–92.CrossRef PubMed
  23.Solari AJ, Rey VG. The prevalence of a YY synaptonemal complex over XY synapsis in an XYY man with exclusive XYY spermatocytes. Chromosom Res. 1997;5:467–74.CrossRef
  24.Milazzo JP, Rives N, Mousset-Simeon N, Mace B. Chromosome constitution and apoptosis of immature germ cells present in sperm of two 47,XYY infertile males. Hum Reprod. 2006;21:1749–58.CrossRef PubMed
  25.Turner JM. Meiotic sex chromosome inactivation. Development. 2007;134:1823–31.CrossRef PubMed
  26.Roeder GS, Bailis JM. The pachytene checkpoint. Trends Genet. 2000;16:395–403.CrossRef PubMed
  27.Hinch AG, Altemose N, Noor N, Donnelly P, Myers SR. Recombination in the human pseudoautosomal region PAR1. Plos Genetics. 2014;10(7):e1004503.PubMedCentral CrossRef PubMed
  28.Flaquer A, Rappold GA, Wienker TF, Fischer C. The human pseudoautosomal regions: a review for genetic epidemiologists. Eur J Hum Genet. 2008;16:771–9.CrossRef PubMed
  29.Subramanian VV, Hochwagen A. The meiotic checkpoint network: step-by-step through meiotic prophase. Cold Spring Harb Perspect Biol. 2014;6(10):a016675.CrossRef PubMed
  30.Lynn A, Koehler KE, Judis L, Chan ER, Cherry JP, Schwartz S, et al. Covariation of synaptonemal complex length and mammalian meiotic exchange rates. Science. 2002;296:2222–5.
  31.Sun F, Oliver-Bonet M, Liehr T, Starke H, Ko E, Rademaker A, et al. Human male recombination maps for individual chromosomes. Am J Hum Genet. 2004;74:521–31.
  32.Codina-Pascual M, Oliver-Bonet M, Navarro J, Campillo M, Garcia F, Egozcue S, et al. Synapsis and meiotic recombination analyses: MLH1 focus in the XY pair as an indicator. Hum Reprod. 2005;20:2133–9.
  33.Sun F, Mikhaail-Philips M, Oliver-Bonet M, Ko E, Rademaker A, Turek P, et al. Reduced meiotic recombination on the XY bivalent is correlated with an increased incidence of sex chromosome aneuploidy in men with non-obstructive azoospermia. Mol Hum Reprod. 2008;14:399–404.
  
• 作者单位：Caiyun Wu (1) (2)
  Liu Wang (3) (4)
  Furhan Iqbal (3) (5)
  Xiaohua Jiang (3) (4)
  Ihtisham Bukhari (3) (4)
  Tonghang Guo (6)
  Gengxin Yin (7)
  Howard J. Cooke (3) (4)
  Zhenyi Cao (2)
  Hong Jiang (1) (2)
  Qinghua Shi (3) (4)
  
  1. The Reproductive Medicine Center, Clinical College of People’s Liberation Army Affiliated to Anhui Medical University, Hefei, Anhui, China
  2. The Reproductive Medicine Center, 105 Hospital of People’s Liberation Army, Hefei, Anhui, China
  3. 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
  4. Collaborative Innovation Center of Genetics and Development, Fudan University, Shanghai, 200438, China
  5. Institute of Pure and Applied Biology, Bahauddin Zakariya University, Multan, 60800, Pakistan
  6. Center for Reproductive Medicine, Anhui Medical University, Affiliated Provincial Hospital, Hefei, China
  7. Anhui Provincial Family Planning Institute of Science and Technology, Hefei, China
  
• 刊物主题：Cytogenetics; Molecular Medicine;
• 出版者：BioMed Central
• ISSN：1755-8166

文摘

Back ground 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.