메뉴 건너뛰기




Volumn 5, Issue 3, 2017, Pages 460-472

Copy number variations in testicular maturation arrest

Author keywords

azoospermic factor; pseudoautosomal regions; SNP microarray; testicular maturation arrest

Indexed keywords

ADULT; ARTICLE; AUTOSOME; AZOOSPERMIA; CHROMOSOME ABERRATION; CONTROLLED STUDY; COPY NUMBER VARIATION; CYTOGENETICS; DICENTRIC CHROMOSOME; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; HUMAN; KLINEFELTER SYNDROME; MAJOR CLINICAL STUDY; MALE; MICROARRAY ANALYSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROSPECTIVE STUDY; PSEUDOAUTOSOMAL REGION; SEQUENCE TAGGED SITE; SEX CHROMOSOME; SINGLE NUCLEOTIDE POLYMORPHISM; SPERMATOZOON MATURATION; TESTICULAR MATURATION ARREST; Y CHROMOSOME; ADOLESCENT; DNA MICROARRAY; GENETICS; MALE INFERTILITY; YOUNG ADULT;

EID: 85013356542     PISSN: 20472919     EISSN: 20472927     Source Type: Journal    
DOI: 10.1111/andr.12330     Document Type: Article
Times cited : (20)

References (75)
  • 3
    • 0018097125 scopus 로고
    • The role of the sex chromosomes in mammalian germ cell differentiation
    • Burgoyne PS. (1978) The role of the sex chromosomes in mammalian germ cell differentiation. Ann Biol Anim Biochim Biophys 18, 317–325.
    • (1978) Ann Biol Anim Biochim Biophys , vol.18 , pp. 317-325
    • Burgoyne, P.S.1
  • 4
    • 0022370034 scopus 로고
    • Perinatal oocyte loss in XO mice and its implications for the aetiology of gonadal dysgenesis in XO women
    • Burgoyne PS & Baker TG. (1985) Perinatal oocyte loss in XO mice and its implications for the aetiology of gonadal dysgenesis in XO women. Reproduction 75, 633–645.
    • (1985) Reproduction , vol.75 , pp. 633-645
    • Burgoyne, P.S.1    Baker, T.G.2
  • 5
    • 0000051626 scopus 로고
    • Unpaired sex chromosomes and gametogenic failure
    • In, (eds., AT Sumner, &, AC Chandley, Springer Netherlands, Dordrecht
    • Burgoyne PS & Mahadevaiah SK. (1993) Unpaired sex chromosomes and gametogenic failure. In: Chromosomes Today (eds. AT Sumner & AC Chandley), pp. 243–263. Springer Netherlands, Dordrecht.
    • (1993) Chromosomes Today , pp. 243-263
    • Burgoyne, P.S.1    Mahadevaiah, S.K.2
  • 6
    • 33646671394 scopus 로고    scopus 로고
    • Human Y-chromosome variation and male dysfunction
    • de Carvalho CMB & Santos FR. (2005) Human Y-chromosome variation and male dysfunction. J Mol Genet Med 1, 63–75.
    • (2005) J Mol Genet Med , vol.1 , pp. 63-75
    • de Carvalho, C.M.B.1    Santos, F.R.2
  • 7
    • 84867813329 scopus 로고    scopus 로고
    • Global human tissue profiling and protein network analysis reveals distinct levels of transcriptional germline-specificity and identifies target genes for male infertility
    • Chalmel F, Lardenois A, Evrard B, Mathieu R, Feig C, Demougin P, Gattiker A, Schulze W, Jégou B & Kirchhoff C. (2012) Global human tissue profiling and protein network analysis reveals distinct levels of transcriptional germline-specificity and identifies target genes for male infertility. Hum Reprod 27, 3233–3248.
    • (2012) Hum Reprod , vol.27 , pp. 3233-3248
    • Chalmel, F.1    Lardenois, A.2    Evrard, B.3    Mathieu, R.4    Feig, C.5    Demougin, P.6    Gattiker, A.7    Schulze, W.8    Jégou, B.9    Kirchhoff, C.10
  • 9
    • 84902590088 scopus 로고    scopus 로고
    • X chromosome-linked CNVs in male infertility: discovery of overall duplication load and recurrent, patient-specific gains with potential clinical relevance
    • Chianese C, Gunning AC, Giachini C, Daguin F, Balercia G, Ars E, Lo Giacco D, Ruiz-Casta E, Forti G & Krausz C. (2014) X chromosome-linked CNVs in male infertility: discovery of overall duplication load and recurrent, patient-specific gains with potential clinical relevance. PLoS ONE 9, 1–7.
    • (2014) PLoS ONE , vol.9 , pp. 1-7
    • Chianese, C.1    Gunning, A.C.2    Giachini, C.3    Daguin, F.4    Balercia, G.5    Ars, E.6    Lo Giacco, D.7    Ruiz-Casta, E.8    Forti, G.9    Krausz, C.10
  • 11
    • 84855992342 scopus 로고    scopus 로고
    • Sex differences in reproductive fitness contribute to preferential maternal transmission of 22q11.2 deletions
    • Costain G, Chow EW, Silversides CK & Bassett AS. (2011) Sex differences in reproductive fitness contribute to preferential maternal transmission of 22q11.2 deletions. J Med Genet 48, 819–824.
    • (2011) J Med Genet , vol.48 , pp. 819-824
    • Costain, G.1    Chow, E.W.2    Silversides, C.K.3    Bassett, A.S.4
  • 12
    • 0025922098 scopus 로고
    • Cytogenetic studies in male infertility: a review
    • De Braekeleer M & Dao TN. (1991) Cytogenetic studies in male infertility: a review. Hum Reprod 6, 245–250.
    • (1991) Hum Reprod , vol.6 , pp. 245-250
    • De Braekeleer, M.1    Dao, T.N.2
  • 13
    • 0028833226 scopus 로고
    • Escape from X inactivation in human and mouse
    • Disteche CM. (1995) Escape from X inactivation in human and mouse. Trends Genet 11, 17–22.
    • (1995) Trends Genet , vol.11 , pp. 17-22
    • Disteche, C.M.1
  • 14
    • 84979871472 scopus 로고    scopus 로고
    • Copy number variations in spermatogenic failure patients with chromosomal abnormalities and unexplained azoospermia
    • Dong Y, Pan Y, Wang R, Zhang Z, Xi Q & Liu RZ. (2015) Copy number variations in spermatogenic failure patients with chromosomal abnormalities and unexplained azoospermia. Genet Mol Res 14, 16041–16049.
    • (2015) Genet Mol Res , vol.14 , pp. 16041-16049
    • Dong, Y.1    Pan, Y.2    Wang, R.3    Zhang, Z.4    Xi, Q.5    Liu, R.Z.6
  • 17
    • 31144469134 scopus 로고    scopus 로고
    • Structural variation in the human genome
    • Feuk L, Carson AR & Scherer SW. (2006) Structural variation in the human genome. Nat Rev Genet 7, 85–97.
    • (2006) Nat Rev Genet , vol.7 , pp. 85-97
    • Feuk, L.1    Carson, A.R.2    Scherer, S.W.3
  • 18
    • 62549134411 scopus 로고    scopus 로고
    • Mechanisms for human genomic rearrangements
    • Gu W, Zhang F & Lupski JR. (2008) Mechanisms for human genomic rearrangements. Pathogenetics 1, 4.
    • (2008) Pathogenetics , vol.1 , pp. 4
    • Gu, W.1    Zhang, F.2    Lupski, J.R.3
  • 19
    • 84881053997 scopus 로고    scopus 로고
    • Fluorescence in-situ hybridization (FISH) using non-commercial probes in the diagnosis of clinically suspected microdeletion syndromes: an experience with 301 cases
    • Halder A, Jain M, Chaudhary I, Gupta N & Kabra M. (2013) Fluorescence in-situ hybridization (FISH) using non-commercial probes in the diagnosis of clinically suspected microdeletion syndromes: an experience with 301 cases. Ind J Med Res 138, 135–142.
    • (2013) Ind J Med Res , vol.138 , pp. 135-142
    • Halder, A.1    Jain, M.2    Chaudhary, I.3    Gupta, N.4    Kabra, M.5
  • 20
    • 85017486697 scopus 로고    scopus 로고
    • SNP microarray in FISH negative clinically suspected 22q11.2 microdeletion syndrome
    • Halder A, Jain M & Kalsi AP. (2016) SNP microarray in FISH negative clinically suspected 22q11.2 microdeletion syndrome. Scientifica 2016, Article ID 5826431, 18 pages. doi: 10.1155/2016/5826431.
    • (2016) Scientifica , vol.2016 , pp. 18
    • Halder, A.1    Jain, M.2    Kalsi, A.P.3
  • 21
    • 0016700903 scopus 로고
    • The possibility of latent centromeres and a proposed nomenclature system for total chromosome and whole arm translocations
    • Hsu TC, Pathak S & Chen TR. (1975) The possibility of latent centromeres and a proposed nomenclature system for total chromosome and whole arm translocations. Cytogenet Genome Res 15, 41–49.
    • (1975) Cytogenet Genome Res , vol.15 , pp. 41-49
    • Hsu, T.C.1    Pathak, S.2    Chen, T.R.3
  • 22
    • 55749111061 scopus 로고    scopus 로고
    • Genetics of spermatogenic failure
    • In, (ed., T Ogata, Karger Publishers, Tokyo
    • Huang WJ & Yen PH. (2008) Genetics of spermatogenic failure. In: Sexual Development (ed. T Ogata), Vol. 2, pp. 251–259. Karger Publishers, Tokyo.
    • (2008) Sexual Development , vol.2 , pp. 251-259
    • Huang, W.J.1    Yen, P.H.2
  • 25
    • 79955044671 scopus 로고    scopus 로고
    • The likelihood of finding mature sperm cells in men with AZFb or AZFb-c deletions: six new cases and a review of the literature (1994–2010)
    • Kleiman SE, Yogev L, Lehavi O, Hauser R, Botchan A, Paz G, Yavetz H, Gamzu R, Land PJ & Kent-First M. (2011) The likelihood of finding mature sperm cells in men with AZFb or AZFb-c deletions: six new cases and a review of the literature (1994–2010). Fertil Steril 95, 2005–2012.
    • (2011) Fertil Steril , vol.95 , pp. 2005-2012
    • Kleiman, S.E.1    Yogev, L.2    Lehavi, O.3    Hauser, R.4    Botchan, A.5    Paz, G.6    Yavetz, H.7    Gamzu, R.8    Land, P.J.9    Kent-First, M.10
  • 29
    • 0030725069 scopus 로고    scopus 로고
    • Functional coherence of the human Y chromosome
    • Lahn BT & Page DC. (1997) Functional coherence of the human Y chromosome. Science 278, 675–680.
    • (1997) Science , vol.278 , pp. 675-680
    • Lahn, B.T.1    Page, D.C.2
  • 35
    • 34547664096 scopus 로고    scopus 로고
    • Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes
    • Lupski JR & Stankiewicz P. (2005) Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes. PLoS Genet 1, 627–633.
    • (2005) PLoS Genet , vol.1 , pp. 627-633
    • Lupski, J.R.1    Stankiewicz, P.2
  • 36
    • 0027451672 scopus 로고
    • Physiopathology of spermatogenic arrest
    • Martin-du Pan RC & Campana A. (1993) Physiopathology of spermatogenic arrest. Fertil Steril 60, 937–946.
    • (1993) Fertil Steril , vol.60 , pp. 937-946
    • Martin-du Pan, R.C.1    Campana, A.2
  • 38
    • 0026658839 scopus 로고
    • Role of the pseudoautosomal region in sex-chromosome pairing during male meiosis: meiotic studies in a man with a deletion of distal Xp
    • Mohandas TK, SpeedRM PM, Yen PH, Chandley AC & Shapiro LJ. (1992) Role of the pseudoautosomal region in sex-chromosome pairing during male meiosis: meiotic studies in a man with a deletion of distal Xp. Am J Hum Genet 51, 526–533.
    • (1992) Am J Hum Genet , vol.51 , pp. 526-533
    • Mohandas, T.K.1    Speedrm, P.M.2    Yen, P.H.3    Chandley, A.C.4    Shapiro, L.J.5
  • 39
    • 79951562565 scopus 로고    scopus 로고
    • A novel partial deletion of the Y chromosome azoospermia factor c region is caused by non-homologous recombination between palindromes and may be associated with increased sperm counts
    • Noordam MJ, van Daalen SKM, Hovingh SE, Korver CM, van der Veen F & Repping S. (2011) A novel partial deletion of the Y chromosome azoospermia factor c region is caused by non-homologous recombination between palindromes and may be associated with increased sperm counts. Hum Reprod 26, 713–723.
    • (2011) Hum Reprod , vol.26 , pp. 713-723
    • Noordam, M.J.1    van Daalen, S.K.M.2    Hovingh, S.E.3    Korver, C.M.4    van der Veen, F.5    Repping, S.6
  • 40
    • 0000974514 scopus 로고
    • Evolution of sex chromosomes in mammals
    • Ohno S. (1969) Evolution of sex chromosomes in mammals. Annu Rev Genet 3, 495–524.
    • (1969) Annu Rev Genet , vol.3 , pp. 495-524
    • Ohno, S.1
  • 41
    • 0031888870 scopus 로고    scopus 로고
    • Chromosome stability is maintained by short inter-centromeric distance in functionally dicentric human Robertsonian translocations
    • Page SL & Shaffer LG. (1998) Chromosome stability is maintained by short inter-centromeric distance in functionally dicentric human Robertsonian translocations. Chromosom Res 6, 115–122.
    • (1998) Chromosom Res , vol.6 , pp. 115-122
    • Page, S.L.1    Shaffer, L.G.2
  • 43
    • 38449122025 scopus 로고    scopus 로고
    • Copy-number variation in control population cohorts
    • Pinto D, Marshall C, Feuk L & Scherer SW. (2007) Copy-number variation in control population cohorts. Hum Mol Genet 16, R168–R173.
    • (2007) Hum Mol Genet , vol.16 , pp. R168-R173
    • Pinto, D.1    Marshall, C.2    Feuk, L.3    Scherer, S.W.4
  • 45
    • 34249690718 scopus 로고    scopus 로고
    • The human Y chromosome: the biological role of a “functional wasteland
    • Quintana-Murci L & Fellous M. (2001) The human Y chromosome: the biological role of a “functional wasteland”. J Biomed Biotechnol 1, 18–24.
    • (2001) J Biomed Biotechnol , vol.1 , pp. 18-24
    • Quintana-Murci, L.1    Fellous, M.2
  • 47
    • 0036782130 scopus 로고    scopus 로고
    • Recombination between palindromes P5 and P1 on the human Y chromosome causes massive deletions and spermatogenic failure
    • Repping S, Skaletsky H, Lange J, Silber S, Van Der Veen F, Oates RD, Page DC & Rozen S (2002) Recombination between palindromes P5 and P1 on the human Y chromosome causes massive deletions and spermatogenic failure. Am J Hum Genet 71, 906–922.
    • (2002) Am J Hum Genet , vol.71 , pp. 906-922
    • Repping, S.1    Skaletsky, H.2    Lange, J.3    Silber, S.4    Van Der Veen, F.5    Oates, R.D.6    Page, D.C.7    Rozen, S.8
  • 48
    • 0034284084 scopus 로고    scopus 로고
    • The pachytene checkpoint
    • Roeder GS & Bailis JM. (2000) The pachytene checkpoint. Trends Genet 16, 395–403.
    • (2000) Trends Genet , vol.16 , pp. 395-403
    • Roeder, G.S.1    Bailis, J.M.2
  • 50
    • 0002809923 scopus 로고
    • How to do a workup for male infertility
    • Schlegel PN. (1991) How to do a workup for male infertility. Med Aspect Hum Sex 25, 28–34.
    • (1991) Med Aspect Hum Sex , vol.25 , pp. 28-34
    • Schlegel, P.N.1
  • 51
    • 0142091380 scopus 로고    scopus 로고
    • A multitude of genes expressed solely in meiotic or postmeiotic spermatogenic cells offers a myriad of contraceptive targets
    • Schultz N, Hamra FK & Garbers DL. (2003) A multitude of genes expressed solely in meiotic or postmeiotic spermatogenic cells offers a myriad of contraceptive targets. Proc Natl Acad Sci USA 100, 12201–12206.
    • (2003) Proc Natl Acad Sci USA , vol.100 , pp. 12201-12206
    • Schultz, N.1    Hamra, F.K.2    Garbers, D.L.3
  • 54
  • 55
    • 4043092052 scopus 로고    scopus 로고
    • EAA/EMQN best practice guidelines for molecular diagnosis of y-chromosomal microdeletions. State of the art 2004
    • Simoni M, Bakker E & Krausz C. (2004) EAA/EMQN best practice guidelines for molecular diagnosis of y-chromosomal microdeletions. State of the art 2004. Int J Androl 27, 240–249.
    • (2004) Int J Androl , vol.27 , pp. 240-249
    • Simoni, M.1    Bakker, E.2    Krausz, C.3
  • 58
    • 0025220142 scopus 로고
    • Prophase of meiosis in human spermatocytes analysed by EM microspreading in infertile men and their controls and comparisons with human oocytes
    • Speed RM & Chandley AC. (1990) Prophase of meiosis in human spermatocytes analysed by EM microspreading in infertile men and their controls and comparisons with human oocytes. Hum Genet 84, 547–554.
    • (1990) Hum Genet , vol.84 , pp. 547-554
    • Speed, R.M.1    Chandley, A.C.2
  • 59
    • 84866256868 scopus 로고    scopus 로고
    • Deletion or underexpression of the Y-chromosome genes CDY2 and HSFY is associated with maturation arrest in American men with nonobstructive azoospermia
    • Stahl PJ, Mielnik AN, Barbieri CE, Schlegel PN & Paduch D. (2012) Deletion or underexpression of the Y-chromosome genes CDY2 and HSFY is associated with maturation arrest in American men with nonobstructive azoospermia. Asian J Androl 14, 676–682.
    • (2012) Asian J Androl , vol.14 , pp. 676-682
    • Stahl, P.J.1    Mielnik, A.N.2    Barbieri, C.E.3    Schlegel, P.N.4    Paduch, D.5
  • 60
    • 0036468807 scopus 로고    scopus 로고
    • Genome architecture, rearrangements and genomic disorders
    • Stankiewicz P & Lupski JR. (2002) Genome architecture, rearrangements and genomic disorders. Trends Genet 18, 74–82.
    • (2002) Trends Genet , vol.18 , pp. 74-82
    • Stankiewicz, P.1    Lupski, J.R.2
  • 62
    • 84892281696 scopus 로고    scopus 로고
    • Classification of andrological disorders
    • In, (eds., E Nieschlag, HM Behre, &, S Nieschlag, Springer Berlin Heidelberg, Berlin, Heidelberg
    • Tüttelmann F & Nieschlag E. (2010) Classification of andrological disorders. In: Andrology: Male Reproductive Health and Dysfunction (eds. E Nieschlag, HM Behre & S Nieschlag), pp. 87–92. Springer Berlin Heidelberg, Berlin, Heidelberg.
    • (2010) Andrology: Male Reproductive Health and Dysfunction , pp. 87-92
    • Tüttelmann, F.1    Nieschlag, E.2
  • 69
    • 0031767665 scopus 로고    scopus 로고
    • Stable dicentric X chromosomes with two functional centromeres
    • Willard HF & Sullivan BA. (1998) Stable dicentric X chromosomes with two functional centromeres. Nat Genet 20, 227–228.
    • (1998) Nat Genet , vol.20 , pp. 227-228
    • Willard, H.F.1    Sullivan, B.A.2
  • 70
    • 84931957056 scopus 로고    scopus 로고
    • Targeted disruption of the spermatid-specific gene Spata31 causes male infertility
    • Wu YY, Yang Y, Xu YD & Yu HL. (2015) Targeted disruption of the spermatid-specific gene Spata31 causes male infertility. Mol Reprod Dev 82, 432–440.
    • (2015) Mol Reprod Dev , vol.82 , pp. 432-440
    • Wu, Y.Y.1    Yang, Y.2    Xu, Y.D.3    Yu, H.L.4
  • 71
    • 0033972224 scopus 로고    scopus 로고
    • PR48, a novel regulatory subunit of protein phosphatase 2A, interacts with Cdc6 and modulates DNA replication in human cells
    • Yan Z, Fedorov SA, Mumby MC & Williams RS. (2000) PR48, a novel regulatory subunit of protein phosphatase 2A, interacts with Cdc6 and modulates DNA replication in human cells. Mol Cell Biol 20, 1021–1029.
    • (2000) Mol Cell Biol , vol.20 , pp. 1021-1029
    • Yan, Z.1    Fedorov, S.A.2    Mumby, M.C.3    Williams, R.S.4
  • 72
    • 0032037422 scopus 로고    scopus 로고
    • The mouse RecA-like gene Dmc1 is required for homologous chromosome synapsis during meiosis
    • Yoshida K, Kondoh G, Matsuda Y, Habu T, Nishimune Y & Morita T. (1998) The mouse RecA-like gene Dmc1 is required for homologous chromosome synapsis during meiosis. Mol Cell 1, 707–718.
    • (1998) Mol Cell , vol.1 , pp. 707-718
    • Yoshida, K.1    Kondoh, G.2    Matsuda, Y.3    Habu, T.4    Nishimune, Y.5    Morita, T.6
  • 74
    • 67649878596 scopus 로고    scopus 로고
    • The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans
    • Zhang F, Khajavi M, Connolly AM, Towne CF, Batish SD & Lupski JR. (2009) The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans. Nat Genet 41, 849–853.
    • (2009) Nat Genet , vol.41 , pp. 849-853
    • Zhang, F.1    Khajavi, M.2    Connolly, A.M.3    Towne, C.F.4    Batish, S.D.5    Lupski, J.R.6
  • 75
    • 33244455474 scopus 로고    scopus 로고
    • Chromosomal abnormality and Y chromosome microdeletion in Chinese patients with azoospermia or severe oligozoospermia
    • Zhou Cun A, Yang Y, Zhang SZ & Wei Zhang LL. (2006) Chromosomal abnormality and Y chromosome microdeletion in Chinese patients with azoospermia or severe oligozoospermia. Acta Genet Sin 33, 111–116.
    • (2006) Acta Genet Sin , vol.33 , pp. 111-116
    • Zhou Cun, A.1    Yang, Y.2    Zhang, S.Z.3    Wei Zhang, L.L.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.