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Volumn 34, Issue 5 PART 1, 2011, Pages 461-469

A rare Y chromosome constitutional rearrangement: A partial AZFb deletion and duplication within chromosome Yp in an infertile man with severe oligoasthenoteratozoospermia

Author keywords

Azoospermia factor b; Deletion; Duplication; Infertile; Oligoasthenoteratozoospermia; Y chromosome

Indexed keywords

AZOOSPERMIA FACTOR B; BIOLOGICAL MARKER; ESTRADIOL; FOLLITROPIN; LUTEINIZING HORMONE; TESTOSTERONE; UNCLASSIFIED DRUG;

EID: 80053302945     PISSN: 01056263     EISSN: 13652605     Source Type: Journal    
DOI: 10.1111/j.1365-2605.2010.01098.x     Document Type: Article
Times cited : (14)

References (41)
  • 1
    • 44449085497 scopus 로고    scopus 로고
    • Spermatogenesis-specific association of SMCY and MSH5
    • Akimoto C, Kitagawa H, Matsumoto T & Kato S. (2008) Spermatogenesis-specific association of SMCY and MSH5. Genes Cells 13, 623-633.
    • (2008) Genes Cells , vol.13 , pp. 623-633
    • Akimoto, C.1    Kitagawa, H.2    Matsumoto, T.3    Kato, S.4
  • 2
    • 0033785321 scopus 로고    scopus 로고
    • Divergent outcomes of intrachromosomal recombination on the human Y chromosome: male infertility and recurrent polymorphism
    • Blanco P, Shlumukova M, Sargent CA, Jobling MA, Affara N & Hurles ME. (2000) Divergent outcomes of intrachromosomal recombination on the human Y chromosome: male infertility and recurrent polymorphism. J Med Genet 37, 752-758.
    • (2000) J Med Genet , vol.37 , pp. 752-758
    • Blanco, P.1    Shlumukova, M.2    Sargent, C.A.3    Jobling, M.A.4    Affara, N.5    Hurles, M.E.6
  • 3
    • 0031728392 scopus 로고    scopus 로고
    • AZFb deletions predict the absence of spermatozoa with testicular sperm extraction: preliminary report of a prognostic genetic test
    • Brandell RA, Mielnik A, Liotta D, Ye Z, Veeck LL, Palermo GD & Schlegel PN. (1998) AZFb deletions predict the absence of spermatozoa with testicular sperm extraction: preliminary report of a prognostic genetic test. Hum Reprod 13, 2812-2815.
    • (1998) Hum Reprod , vol.13 , pp. 2812-2815
    • Brandell, R.A.1    Mielnik, A.2    Liotta, D.3    Ye, Z.4    Veeck, L.L.5    Palermo, G.D.6    Schlegel, P.N.7
  • 4
  • 6
    • 0031053390 scopus 로고    scopus 로고
    • A human candidate spermatogenesis gene, RBM1, is conserved and amplified on the marsupial Y chromosome
    • Delbridge ML, Harry JL, Toder R, O'Neill RJ, Ma K, Chandley AC & Graves JA. (1997) A human candidate spermatogenesis gene, RBM1, is conserved and amplified on the marsupial Y chromosome. Nat Genet 15, 131-136.
    • (1997) Nat Genet , vol.15 , pp. 131-136
    • Delbridge, M.L.1    Harry, J.L.2    Toder, R.3    O'Neill, R.J.4    Ma, K.5    Chandley, A.C.6    Graves, J.A.7
  • 7
    • 12644310287 scopus 로고    scopus 로고
    • Expression of RBM in the nuclei of human germ cells is dependent on a critical region of the Y chromosome long arm
    • Elliott DJ, Millar MR, Oghene K, Ross A, Kiesewetter F, Pryor J et al. (1997) Expression of RBM in the nuclei of human germ cells is dependent on a critical region of the Y chromosome long arm. Proc Natl Acad Sci USA 94, 3848-3853.
    • (1997) Proc Natl Acad Sci USA , vol.94 , pp. 3848-3853
    • Elliott, D.J.1    Millar, M.R.2    Oghene, K.3    Ross, A.4    Kiesewetter, F.5    Pryor, J.6
  • 8
    • 0037238769 scopus 로고    scopus 로고
    • The human Y chromosome's azoospermia factor b (AZFb) region: sequence, structure, and deletion analysis in infertile men
    • Ferlin A, Moro E, Rossi A, Dallapiccola B & Foresta C. (2003) The human Y chromosome's azoospermia factor b (AZFb) region: sequence, structure, and deletion analysis in infertile men. J Med Genet 40, 18-24.
    • (2003) J Med Genet , vol.40 , pp. 18-24
    • Ferlin, A.1    Moro, E.2    Rossi, A.3    Dallapiccola, B.4    Foresta, C.5
  • 10
  • 11
    • 0035012270 scopus 로고    scopus 로고
    • Y chromosome microdeletions and alterations of spermatogenesis
    • Foresta C, Moro E & Ferlin A. (2001) Y chromosome microdeletions and alterations of spermatogenesis. Endocr Rev 22, 226-239.
    • (2001) Endocr Rev , vol.22 , pp. 226-239
    • Foresta, C.1    Moro, E.2    Ferlin, A.3
  • 12
    • 0030883296 scopus 로고    scopus 로고
    • Submicroscopic deletions in the Y chromosome of infertile men
    • Girardi SK, Mielnik A & Schlegel PN. (1997) Submicroscopic deletions in the Y chromosome of infertile men. Hum Reprod 12, 1635-1641.
    • (1997) Hum Reprod , vol.12 , pp. 1635-1641
    • Girardi, S.K.1    Mielnik, A.2    Schlegel, P.N.3
  • 14
    • 33744456276 scopus 로고    scopus 로고
    • Y chromosome and male infertility: update, 2006
    • Krausz C & Degl'Innocenti S. (2006) Y chromosome and male infertility: update, 2006. Front Biosci 11, 3049-3061.
    • (2006) Front Biosci , vol.11 , pp. 3049-3061
    • Krausz, C.1    Degl'Innocenti, S.2
  • 15
    • 0033555008 scopus 로고    scopus 로고
    • Y chromosome and male infertility
    • Krausz C & McElreavey K. (1999) Y chromosome and male infertility. Front Biosci 4, E1-E8.
    • (1999) Front Biosci , vol.4
    • Krausz, C.1    McElreavey, K.2
  • 16
    • 0033803789 scopus 로고    scopus 로고
    • Prognostic value of Y deletion analysis: what is the clinical prognostic value of Y chromosome microdeletion analysis
    • Krausz C, Quintana-Murci L & McElreavey K. (2000) Prognostic value of Y deletion analysis: what is the clinical prognostic value of Y chromosome microdeletion analysis. Hum Reprod 15, 1431-1434.
    • (2000) Hum Reprod , vol.15 , pp. 1431-1434
    • Krausz, C.1    Quintana-Murci, L.2    McElreavey, K.3
  • 17
    • 0035184973 scopus 로고    scopus 로고
    • The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men
    • Kuroda-Kawaguchi T, Skaletsky H, Brown LG, Minx PJ, Cordum HS, Waterston RH et al. (2001) The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men. Nat Genet 29, 279-286.
    • (2001) Nat Genet , vol.29 , pp. 279-286
    • Kuroda-Kawaguchi, T.1    Skaletsky, H.2    Brown, L.G.3    Minx, P.J.4    Cordum, H.S.5    Waterston, R.H.6
  • 18
    • 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
  • 19
    • 0032900650 scopus 로고    scopus 로고
    • Retroposition of autosomal mRNA yielded testis-specific gene family on human Y chromosome
    • Lahn BT & Page DC. (1999) Retroposition of autosomal mRNA yielded testis-specific gene family on human Y chromosome. Nat Genet 21, 429-433.
    • (1999) Nat Genet , vol.21 , pp. 429-433
    • Lahn, B.T.1    Page, D.C.2
  • 22
    • 6844266287 scopus 로고    scopus 로고
    • Mouse homologues of the human AZF candidate gene RBM are expressed in spermatogonia and spermatids, and map to a Y chromosome deletion interval associated with a high incidence of sperm abnormalities
    • Mahadevaiah SK, Odorisio T, Elliott DJ, Rattigan A, Szot M, Laval SH et al. (1998) Mouse homologues of the human AZF candidate gene RBM are expressed in spermatogonia and spermatids, and map to a Y chromosome deletion interval associated with a high incidence of sperm abnormalities. Hum Mol Genet 7, 715-727.
    • (1998) Hum Mol Genet , vol.7 , pp. 715-727
    • Mahadevaiah, S.K.1    Odorisio, T.2    Elliott, D.J.3    Rattigan, A.4    Szot, M.5    Laval, S.H.6
  • 24
    • 34548179557 scopus 로고    scopus 로고
    • Constitutional duplication of a region of chromosome Yp encoding AMELY, PRKY, and TBL1Y: implications for sex chromosome analysis and bone marrow engraftment analysis
    • Murphy KM, Cohen JS, Goodrich A, Long PP & Griffin CA. (2007) Constitutional duplication of a region of chromosome Yp encoding AMELY, PRKY, and TBL1Y: implications for sex chromosome analysis and bone marrow engraftment analysis. J Mol Diagn 9, 408-413.
    • (2007) J Mol Diagn , vol.9 , pp. 408-413
    • Murphy, K.M.1    Cohen, J.S.2    Goodrich, A.3    Long, P.P.4    Griffin, C.A.5
  • 25
    • 9244243681 scopus 로고    scopus 로고
    • Substantial prevalence of microdeletions of the Y-chromosome in infertile men with idiopathic azoospermia and oligozoospermia detected using a sequence-tagged site-based mapping strategy
    • Najmabadi H, Huang V, Yen P, Subbarao MN, Bhasin D, Banaag L, Naseeruddin S, de Kretser DM, Baker HW & McLachlan RI. (1996) Substantial prevalence of microdeletions of the Y-chromosome in infertile men with idiopathic azoospermia and oligozoospermia detected using a sequence-tagged site-based mapping strategy. J Clin Endocrinol Metab 81, 1347-1352.
    • (1996) J Clin Endocrinol Metab , vol.81 , pp. 1347-1352
    • Najmabadi, H.1    Huang, V.2    Yen, P.3    Subbarao, M.N.4    Bhasin, D.5    Banaag, L.6    Naseeruddin, S.7    de Kretser, D.M.8    Baker, H.W.9    McLachlan, R.I.10
  • 26
    • 0036852977 scopus 로고    scopus 로고
    • Clinical characterization of 42 oligospermic or azoospermic men with microdeletion of the AZFc region of the Y chromosome, and of 18 children conceived via ICSI
    • Oates RD, Silber S, Brown LG & Page DC. (2002) Clinical characterization of 42 oligospermic or azoospermic men with microdeletion of the AZFc region of the Y chromosome, and of 18 children conceived via ICSI. Hum Reprod 17, 2813-2824.
    • (2002) Hum Reprod , vol.17 , pp. 2813-2824
    • Oates, R.D.1    Silber, S.2    Brown, L.G.3    Page, D.C.4
  • 28
    • 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
  • 29
    • 33645418499 scopus 로고    scopus 로고
    • High mutation rates have driven extensive structural polymorphism among human Y chromosomes
    • Repping S, van DSK, Brown LG, Korver CM, Lange J, Marszalek JD et al. (2006) High mutation rates have driven extensive structural polymorphism among human Y chromosomes. Nat Genet 38, 463-467.
    • (2006) Nat Genet , vol.38 , pp. 463-467
    • Repping, S.1    van, D.S.K.2    Brown, L.G.3    Korver, C.M.4    Lange, J.5    Marszalek, J.D.6
  • 30
    • 0036712133 scopus 로고    scopus 로고
    • Natural transmission of a partial AZFb deletion of the Y chromosome over three generations: case report
    • Rolf C, Gromoll J, Simoni M & Nieschlag E. (2002) Natural transmission of a partial AZFb deletion of the Y chromosome over three generations: case report. Hum Reprod 17, 2267-2271.
    • (2002) Hum Reprod , vol.17 , pp. 2267-2271
    • Rolf, C.1    Gromoll, J.2    Simoni, M.3    Nieschlag, E.4
  • 32
    • 0037967242 scopus 로고    scopus 로고
    • The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes
    • Skaletsky H, Kuroda-Kawaguchi T, Minx PJ, Cordum HS, Hillier L, Brown LG et al. (2003) The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. Nature 423, 825-837.
    • (2003) Nature , vol.423 , pp. 825-837
    • Skaletsky, H.1    Kuroda-Kawaguchi, T.2    Minx, P.J.3    Cordum, H.S.4    Hillier, L.5    Brown, L.G.6
  • 33
    • 0000108127 scopus 로고
    • A rapid and quantitative DNA sex test: fluorescence-based PCR analysis of X-Y homologous gene amelogenin
    • Sullivan KM, Mannucci A, Kimpton CP & Gill P. (1993) A rapid and quantitative DNA sex test: fluorescence-based PCR analysis of X-Y homologous gene amelogenin. BioTechniques 15, 636-638.
    • (1993) BioTechniques , vol.15 , pp. 636-638
    • Sullivan, K.M.1    Mannucci, A.2    Kimpton, C.P.3    Gill, P.4
  • 34
    • 1842532590 scopus 로고    scopus 로고
    • Characterization of HSFY, a novel AZFb gene on the Y chromosome with a possible role in human spermatogenesis
    • Tessari A, Salata E, Ferlin A, Bartoloni L, Slongo ML & Foresta C. (2004) Characterization of HSFY, a novel AZFb gene on the Y chromosome with a possible role in human spermatogenesis. Mol Hum Reprod 10, 253-258.
    • (2004) Mol Hum Reprod , vol.10 , pp. 253-258
    • Tessari, A.1    Salata, E.2    Ferlin, A.3    Bartoloni, L.4    Slongo, M.L.5    Foresta, C.6
  • 35
    • 18644369633 scopus 로고    scopus 로고
    • A deletion of a novel heat shock gene on the Y chromosome associated with azoospermia
    • Vinci G, Raicu F, Popa L, Popa O, Cocos R & McElreavey K. (2005) A deletion of a novel heat shock gene on the Y chromosome associated with azoospermia. Mol Hum Reprod 11, 295-298.
    • (2005) Mol Hum Reprod , vol.11 , pp. 295-298
    • Vinci, G.1    Raicu, F.2    Popa, L.3    Popa, O.4    Cocos, R.5    McElreavey, K.6
  • 36
    • 11944252048 scopus 로고    scopus 로고
    • Azoospermia factor (AZF) in Yq11: towards a molecular understanding of its function for human male fertility and spermatogenesis
    • Vogt PH. (2005a) Azoospermia factor (AZF) in Yq11: towards a molecular understanding of its function for human male fertility and spermatogenesis. Reprod Biomed Online 10, 81-93.
    • (2005) Reprod Biomed Online , vol.10 , pp. 81-93
    • Vogt, P.H.1
  • 37
    • 21244439839 scopus 로고    scopus 로고
    • AZF deletions and Y chromosomal haplogroups: history and update based on sequence
    • Vogt PH. (2005b) AZF deletions and Y chromosomal haplogroups: history and update based on sequence. Hum Reprod Update 11, 319-336.
    • (2005) Hum Reprod Update , vol.11 , pp. 319-336
    • Vogt, P.H.1
  • 41
    • 55449110059 scopus 로고    scopus 로고
    • Massive deletion in AZFb/b+c and azoospermia with Sertoli cell only and/or maturation arrest
    • Yang Y, Ma MY, Xiao CY, Li L, Li SW & Zhang SZ. (2008) Massive deletion in AZFb/b+c and azoospermia with Sertoli cell only and/or maturation arrest. Int J Androl 31, 573-578.
    • (2008) Int J Androl , vol.31 , pp. 573-578
    • Yang, Y.1    Ma, M.Y.2    Xiao, C.Y.3    Li, L.4    Li, S.W.5    Zhang, S.Z.6


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