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Volumn 2, Issue 4-5, 2008, Pages 251-259

Genetics of spermatogenic failure

Author keywords

Klinefelter syndrome; Spermatogenesis; XX male syndrome; Y Microdeletion

Indexed keywords

CHROMOSOME DELETION Y; CONFERENCE PAPER; GENE DELETION; GENETIC ANALYSIS; GENETIC ASSOCIATION; HUMAN; KLINEFELTER SYNDROME; NONHUMAN; PRIORITY JOURNAL; SEX CHROMOSOME; SPERMATOGENESIS; XX MALE;

EID: 55749111061     PISSN: 16615425     EISSN: 16615433     Source Type: Journal    
DOI: 10.1159/000152041     Document Type: Conference Paper
Times cited : (19)

References (82)
  • 1
    • 34147168217 scopus 로고    scopus 로고
    • Y-chromosome haplogroups and susceptibility to azoospermia factor c microdeletion in an Italian population
    • Arredi B, Ferlin A, Speltra E, Bedin C, Zuccarello D, et al: Y-chromosome haplogroups and susceptibility to azoospermia factor c microdeletion in an Italian population. J Med Genet 44:205-208 (2007).
    • (2007) J Med Genet , vol.44 , pp. 205-208
    • Arredi, B.1    Ferlin, A.2    Speltra, E.3    Bedin, C.4    Zuccarello, D.5
  • 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: Divergent outcomes of intrachromosomal recombination on the human Y chromosome: male infertility and recurrent polymorphism. J Med Genet 37:752-758 (2000).
    • (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
    • 34147152346 scopus 로고    scopus 로고
    • Klinefelter syndrome in clinical practice
    • Bojesen A, Gravholt CH: Klinefelter syndrome in clinical practice. Nat Clin Pract Urol 4:192-204 (2007).
    • (2007) Nat Clin Pract Urol , vol.4 , pp. 192-204
    • Bojesen, A.1    Gravholt, C.H.2
  • 5
    • 0037320728 scopus 로고    scopus 로고
    • Duplications of the AZFa region of the human Y chromosome are mediated by homologous recombination between HERVs and are compatible with male fertility
    • Bosch E, Jobling MA: Duplications of the AZFa region of the human Y chromosome are mediated by homologous recombination between HERVs and are compatible with male fertility. Hum Mol Genet 12:341-347 (2003).
    • (2003) Hum Mol Genet , vol.12 , pp. 341-347
    • Bosch, E.1    Jobling, M.A.2
  • 6
    • 0028304515 scopus 로고
    • Clinical and anatomical spectrum in XX sex reversed patients. Relationship to the presence of Y-specific DNA-sequences
    • Boucekkine C, Toublanc JE, Abbas N, Chaabouni S, Ouahid S, et al: Clinical and anatomical spectrum in XX sex reversed patients. Relationship to the presence of Y-specific DNA-sequences. Clin Endocrinol (Oxf) 40:733-742 (1994).
    • (1994) Clin Endocrinol (Oxf) , vol.40 , pp. 733-742
    • Boucekkine, C.1    Toublanc, J.E.2    Abbas, N.3    Chaabouni, S.4    Ouahid, S.5
  • 7
    • 6844252248 scopus 로고    scopus 로고
    • Characterisation of the coding sequence and fine mapping of the human DFFRY gene and comparative expression analysis and mapping to the Sxrb interval of the mouse Y chromosome of the Dffry gene
    • Brown GM, Furlong RA, Sargent CA, Erickson RP, Longepied G, et al: Characterisation of the coding sequence and fine mapping of the human DFFRY gene and comparative expression analysis and mapping to the Sxrb interval of the mouse Y chromosome of the Dffry gene. Hum Mol Genet 7:97-107 (1998).
    • (1998) Hum Mol Genet , vol.7 , pp. 97-107
    • Brown, G.M.1    Furlong, R.A.2    Sargent, C.A.3    Erickson, R.P.4    Longepied, G.5
  • 8
    • 0036062106 scopus 로고    scopus 로고
    • Spontaneous transmission from a father to his son of a Y chromosome microdeletion involving the deleted in azoospermia (DAZ) gene
    • Calogero AE, Garofalo MR, Barone N, Longo GA, De Palma A, et al: Spontaneous transmission from a father to his son of a Y chromosome microdeletion involving the deleted in azoospermia (DAZ) gene. J Endocrinol Invest 25:631-634 (2002).
    • (2002) J Endocrinol Invest , vol.25 , pp. 631-634
    • Calogero, A.E.1    Garofalo, M.R.2    Barone, N.3    Longo, G.A.4    De Palma, A.5
  • 9
    • 15244353967 scopus 로고    scopus 로고
    • X-inactivation profile reveals extensive variability in X-linked gene expression in females
    • Carrel L, Willard HF: X-inactivation profile reveals extensive variability in X-linked gene expression in females. Nature 434:400-404 (2005).
    • (2005) Nature , vol.434 , pp. 400-404
    • Carrel, L.1    Willard, H.F.2
  • 10
    • 0032757164 scopus 로고    scopus 로고
    • Y chromosome microdeletion in a father and his four infertile sons
    • Chang PL, Sauer MV, Brown S: Y chromosome microdeletion in a father and his four infertile sons. Hum Reprod 14:2689-2694 (1999).
    • (1999) Hum Reprod , vol.14 , pp. 2689-2694
    • Chang, P.L.1    Sauer, M.V.2    Brown, S.3
  • 11
    • 23044468281 scopus 로고    scopus 로고
    • The DAZL family proteins are PABP-binding proteins that regulate translation in germ cells
    • Collier B, Gorgoni B, Loveridge C, Cooke HJ, Gray NK: The DAZL family proteins are PABP-binding proteins that regulate translation in germ cells. EMBO J 24:2656-2666 (2005).
    • (2005) EMBO J , vol.24 , pp. 2656-2666
    • Collier, B.1    Gorgoni, B.2    Loveridge, C.3    Cooke, H.J.4    Gray, N.K.5
  • 13
    • 0015265706 scopus 로고
    • Nature and origin of males with XX sex chromosomes
    • de la Chapelle A: Nature and origin of males with XX sex chromosomes. Am J Hum Genet 24:71-105 (1971).
    • (1971) Am J Hum Genet , vol.24 , pp. 71-105
    • de la Chapelle, A.1
  • 14
    • 5144219565 scopus 로고    scopus 로고
    • Assisted reproductive techniques in patients with Klinefelter syndrome: A critical review
    • Denschlag D, Tempfer C, Kunze M, Wolff G, Keck C: Assisted reproductive techniques in patients with Klinefelter syndrome: a critical review. Fertil Steril 82:775-779 (2004).
    • (2004) Fertil Steril , vol.82 , pp. 775-779
    • Denschlag, D.1    Tempfer, C.2    Kunze, M.3    Wolff, G.4    Keck, C.5
  • 15
    • 5444256749 scopus 로고    scopus 로고
    • The AZFa gene DBY (DDX3Y) is widely transcribed but the protein is limited to the male germ cells by translation control
    • Ditton HJ, Zimmer J, Kamp C, Rajpert-De Meyts E, Vogt PH: The AZFa gene DBY (DDX3Y) is widely transcribed but the protein is limited to the male germ cells by translation control. Hum Mol Genet 13:2333-2341 (2004).
    • (2004) Hum Mol Genet , vol.13 , pp. 2333-2341
    • Ditton, H.J.1    Zimmer, J.2    Kamp, C.3    Rajpert-De Meyts, E.4    Vogt, P.H.5
  • 16
    • 10844225439 scopus 로고    scopus 로고
    • The role of potential splicing factors including RBMY, RBMX, hnRNPG-T and STAR proteins in spermatogenesis
    • Elliott DJ: The role of potential splicing factors including RBMY, RBMX, hnRNPG-T and STAR proteins in spermatogenesis. Int J Androl 27:328-334 (2004).
    • (2004) Int J Androl , vol.27 , pp. 328-334
    • Elliott, D.J.1
  • 17
    • 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, et al: 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).
    • (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
  • 18
    • 0014029835 scopus 로고
    • X-Y chromosomal interchange in the aetiology of true hermaphroditism and of XX Klinefelter's syndrome
    • Ferguson-Smith MA: X-Y chromosomal interchange in the aetiology of true hermaphroditism and of XX Klinefelter's syndrome. Lancet 2:475-476 (1966).
    • (1966) Lancet , vol.2 , pp. 475-476
    • Ferguson-Smith, M.A.1
  • 19
    • 0034194140 scopus 로고    scopus 로고
    • Deletion and expression analysis of AZFa genes on the human Y chromosome revealed a major role for DBY in male infertility
    • Foresta C, Ferlin A, Moro E: Deletion and expression analysis of AZFa genes on the human Y chromosome revealed a major role for DBY in male infertility. Hum Mol Genet 9:1161-1169 (2000).
    • (2000) Hum Mol Genet , vol.9 , pp. 1161-1169
    • Foresta, C.1    Ferlin, A.2    Moro, E.3
  • 20
    • 0031913144 scopus 로고    scopus 로고
    • DAZ (Deleted in AZoospermia) genes encode proteins located in human late spermatids and in sperm tails
    • Habermann B, Mi HF, Edelmann A, Bohring C, Bäckert IT: DAZ (Deleted in AZoospermia) genes encode proteins located in human late spermatids and in sperm tails. Hum Reprod 13:363-369 (1998).
    • (1998) Hum Reprod , vol.13 , pp. 363-369
    • Habermann, B.1    Mi, H.F.2    Edelmann, A.3    Bohring, C.4    Bäckert, I.T.5
  • 21
    • 0034564094 scopus 로고    scopus 로고
    • Towards an understanding of the genetics of human male infertility: Lessons from flies
    • Hackstein JH, Hochstenbach R, Pearson PL: Towards an understanding of the genetics of human male infertility: lessons from flies. Trends Genet 16:565-572 (2000).
    • (2000) Trends Genet , vol.16 , pp. 565-572
    • Hackstein, J.H.1    Hochstenbach, R.2    Pearson, P.L.3
  • 23
    • 33747686159 scopus 로고
    • A case of human intersexuality having a possible XXY sex-determining mechanism
    • Jacobs PA, Strong JA: A case of human intersexuality having a possible XXY sex-determining mechanism. Nature 183:302-303 (1959).
    • (1959) Nature , vol.183 , pp. 302-303
    • Jacobs, P.A.1    Strong, J.A.2
  • 24
    • 19944430270 scopus 로고    scopus 로고
    • Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation
    • Jensen LR, Amende M, Gurok U, Moser B, Gimmel V: Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation. Am J Hum Genet 76:227-236 (2005).
    • (2005) Am J Hum Genet , vol.76 , pp. 227-236
    • Jensen, L.R.1    Amende, M.2    Gurok, U.3    Moser, B.4    Gimmel, V.5
  • 25
    • 10344260798 scopus 로고    scopus 로고
    • Recurrent duplication and deletion polymorphisms on the long arm of the Y chromosome in normal males
    • Jobling MA, Samara V, Pandya A, Fretwell N, Bernasconi B, et al: Recurrent duplication and deletion polymorphisms on the long arm of the Y chromosome in normal males. Hum Mol Genet 5:1767-1775 (1996).
    • (1996) Hum Mol Genet , vol.5 , pp. 1767-1775
    • Jobling, M.A.1    Samara, V.2    Pandya, A.3    Fretwell, N.4    Bernasconi, B.5
  • 26
    • 9644279865 scopus 로고    scopus 로고
    • Belle is a Drosophila DEAD-box protein required for viability and in the germ line
    • Johnstone O, Deuring R, Bock R, Linder P, Fuller MT, Lasko P: Belle is a Drosophila DEAD-box protein required for viability and in the germ line. Dev Biol 277:92-101 (2005).
    • (2005) Dev Biol , vol.277 , pp. 92-101
    • Johnstone, O.1    Deuring, R.2    Bock, R.3    Linder, P.4    Fuller, M.T.5    Lasko, P.6
  • 27
    • 0034641881 scopus 로고    scopus 로고
    • Two long homologous retroviral sequence blocks in proximal Yq11 cause AZFa microdeletions as a result of intrachromosomal recombination events
    • Kamp C, Hirschmann P, Voss H, Huellen K, Vogt PH: Two long homologous retroviral sequence blocks in proximal Yq11 cause AZFa microdeletions as a result of intrachromosomal recombination events. Hum Mol Genet 9:2563-2572 (2000).
    • (2000) Hum Mol Genet , vol.9 , pp. 2563-2572
    • Kamp, C.1    Hirschmann, P.2    Voss, H.3    Huellen, K.4    Vogt, P.H.5
  • 28
    • 0034795056 scopus 로고    scopus 로고
    • High deletion frequency of the complete AZFa sequence in men with Sertoli-cell-only syndrome
    • Kamp C, Huellen K, Fernandes S, Sousa M, Schlegel PN, et al: High deletion frequency of the complete AZFa sequence in men with Sertoli-cell-only syndrome. Mol Hum Reprod 7:987-994 (2001).
    • (2001) Mol Hum Reprod , vol.7 , pp. 987-994
    • Kamp, C.1    Huellen, K.2    Fernandes, S.3    Sousa, M.4    Schlegel, P.N.5
  • 29
    • 0032924325 scopus 로고    scopus 로고
    • Defining regions of the Y-chromosome responsible for male infertility and identification of a fourth AZF region (AZFd) by Y-chromosome microdeletion detection
    • Kent-First M, Muallem A, Shultz J, Pryor J, Roberts K, et al: Defining regions of the Y-chromosome responsible for male infertility and identification of a fourth AZF region (AZFd) by Y-chromosome microdeletion detection. Mol Reprod Dev 53:27-41 (1999).
    • (1999) Mol Reprod Dev , vol.53 , pp. 27-41
    • Kent-First, M.1    Muallem, A.2    Shultz, J.3    Pryor, J.4    Roberts, K.5
  • 30
    • 85003166195 scopus 로고
    • Syndrome characterized by gynecomastia, aspermatogenesis without a-Leydigism and increased excretion of follicle-stimulating hormone
    • Klinefelter HF Jr, Reifenstein EC Jr, Albright F: Syndrome characterized by gynecomastia, aspermatogenesis without a-Leydigism and increased excretion of follicle-stimulating hormone. J Clin Endocrinol Metab 2:615-624 (1942).
    • (1942) J Clin Endocrinol Metab , vol.2 , pp. 615-624
    • Klinefelter Jr, H.F.1    Reifenstein Jr, E.C.2    Albright, F.3
  • 31
    • 33744456276 scopus 로고    scopus 로고
    • Y chromosome and male infertility: Update, 2006
    • Krausz C, Degl'Innocenti S: Y chromosome and male infertility: update, 2006. Front Biosci 11:3049-3061 (2006).
    • (2006) Front Biosci , vol.11 , pp. 3049-3061
    • Krausz, C.1    Degl'Innocenti, S.2
  • 32
    • 33748746053 scopus 로고    scopus 로고
    • Natural transmission of USP9Y gene mutations: A new perspective on the role of AZFa genes in male fertility
    • Krausz C, Degl'Innocenti S, Nuti F, Morelli A, Felici F, et al: Natural transmission of USP9Y gene mutations: a new perspective on the role of AZFa genes in male fertility. Hum Mol Genet 15:2673-2681 (2006).
    • (2006) Hum Mol Genet , vol.15 , pp. 2673-2681
    • Krausz, C.1    Degl'Innocenti, S.2    Nuti, F.3    Morelli, A.4    Felici, F.5
  • 33
    • 1842584994 scopus 로고    scopus 로고
    • Case report: Natural transmission of an AZFc Y-chromosomal microdeletion from father to his sons
    • Kuhnert B, Gromoll J, Kostova E, Tschanter P, Luetjens CM, et al: Case report: natural transmission of an AZFc Y-chromosomal microdeletion from father to his sons. Hum Reprod 19:886-888 (2004).
    • (2004) Hum Reprod , vol.19 , pp. 886-888
    • Kuhnert, B.1    Gromoll, J.2    Kostova, E.3    Tschanter, P.4    Luetjens, C.M.5
  • 34
    • 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, et al: The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men. Nat Genet 29:279-286 (2001).
    • (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
  • 35
    • 0030725069 scopus 로고    scopus 로고
    • Functional coherence of the human Y chromosome
    • Lahn BT, Page DC: Functional coherence of the human Y chromosome. Science 278:675-680 (1997).
    • (1997) Science , vol.278 , pp. 675-680
    • Lahn, B.T.1    Page, D.C.2
  • 36
    • 0037173065 scopus 로고    scopus 로고
    • Previously uncharacterized histone acetyltransferases implicated in mammalian spermatogenesis
    • Lahn BT, Tang ZL, Zhou J, Barndt RJ, Parvinen M: Previously uncharacterized histone acetyltransferases implicated in mammalian spermatogenesis. Proc Natl Acad Sci USA 99:8707-8712 (2002).
    • (2002) Proc Natl Acad Sci USA , vol.99 , pp. 8707-8712
    • Lahn, B.T.1    Tang, Z.L.2    Zhou, J.3    Barndt, R.J.4    Parvinen, M.5
  • 37
    • 33748940071 scopus 로고    scopus 로고
    • Dazl can bind to dynein motor complex and may play a role in transport of specific mRNAs
    • Lee KH, Lee S, Kim B, Chang S, Kim SW, et al: Dazl can bind to dynein motor complex and may play a role in transport of specific mRNAs. EMBO J 25:4263-70 (2006).
    • (2006) EMBO J , vol.25 , pp. 4263-4270
    • Lee, K.H.1    Lee, S.2    Kim, B.3    Chang, S.4    Kim, S.W.5
  • 38
    • 0034764465 scopus 로고    scopus 로고
    • Expression patterns and transcript concentrations of the autosomal DAZL gene in testes of azoospermic men
    • Lin YM, Chen CW, Sun HS, Tsai SJ, Hsu CC, et al: Expression patterns and transcript concentrations of the autosomal DAZL gene in testes of azoospermic men. Mol Hum Reprod 7:1015-1022 (2001).
    • (2001) Mol Hum Reprod , vol.7 , pp. 1015-1022
    • Lin, Y.M.1    Chen, C.W.2    Sun, H.S.3    Tsai, S.J.4    Hsu, C.C.5
  • 39
    • 34247599221 scopus 로고    scopus 로고
    • Partial duplication at AZFc on the Y chromosome is a risk factor for impaired spermatogenesis in Han Chinese in Taiwan
    • Lin YW, Hsu LC, Kuo PL, Huang WJ, Chiang HS, et al: Partial duplication at AZFc on the Y chromosome is a risk factor for impaired spermatogenesis in Han Chinese in Taiwan. Hum Mutat 28:486-494 (2007).
    • (2007) Hum Mutat , vol.28 , pp. 486-494
    • Lin, Y.W.1    Hsu, L.C.2    Kuo, P.L.3    Huang, W.J.4    Chiang, H.S.5
  • 40
    • 0035046095 scopus 로고    scopus 로고
    • XXY male mice: An experimental model for Klinefelter syndrome
    • Lue Y, Rao PN, Sinha Hikim AP, Im M, Salameh WA, et al: XXY male mice: an experimental model for Klinefelter syndrome. Endocrinology 142:1461-1470 (2001).
    • (2001) Endocrinology , vol.142 , pp. 1461-1470
    • Lue, Y.1    Rao, P.N.2    Sinha Hikim, A.P.3    Im, M.4    Salameh, W.A.5
  • 41
    • 0016181781 scopus 로고
    • Sex chromosome activity in germ cells
    • Lyon MF: Sex chromosome activity in germ cells. Basic Life Sci 4(PART A):63-71 (1974).
    • (1974) Basic Life Sci 4(PART A) , pp. 63-71
    • Lyon, M.F.1
  • 42
    • 0024572227 scopus 로고
    • X-chromosome inactivation as a system of gene dosage compensation to regulate gene expression
    • Lyon MF: X-chromosome inactivation as a system of gene dosage compensation to regulate gene expression. Prog Nucleic Acid Res Mol Biol 36:119-130 (1989).
    • (1989) Prog Nucleic Acid Res Mol Biol , vol.36 , pp. 119-130
    • Lyon, M.F.1
  • 43
    • 0027715823 scopus 로고
    • A Y chromosome gene family with RNA-binding protein homology: Candidates for the azoospermia factor AZF controlling human spermatogenesis
    • Ma K, Inglis JD, Sharkey A, Bickmore WA, Hill RE, et al: A Y chromosome gene family with RNA-binding protein homology: candidates for the azoospermia factor AZF controlling human spermatogenesis. Cell 75:1287-1295 (1993).
    • (1993) Cell , vol.75 , pp. 1287-1295
    • Ma, K.1    Inglis, J.D.2    Sharkey, A.3    Bickmore, W.A.4    Hill, R.E.5
  • 44
    • 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, et al: 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).
    • (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
  • 45
    • 0032951805 scopus 로고    scopus 로고
    • Conventional and molecular cytogenetic identification of a variant Klinefelter syndrome patient with a deleted X chromosome
    • Mark HF, Feldman D, Sigman M: Conventional and molecular cytogenetic identification of a variant Klinefelter syndrome patient with a deleted X chromosome. Pathobiology 67:55-58 (1999).
    • (1999) Pathobiology , vol.67 , pp. 55-58
    • Mark, H.F.1    Feldman, D.2    Sigman, M.3
  • 46
    • 0036798824 scopus 로고    scopus 로고
    • Genetic dissection of mammalian fertility pathways
    • Matzuk MM, Lamb DJ: Genetic dissection of mammalian fertility pathways. Nat Cell Biol 4 Suppl:s41-49 (2002).
    • (2002) Nat Cell Biol , vol.4 , Issue.SUPPL.
    • Matzuk, M.M.1    Lamb, D.J.2
  • 47
    • 0031037973 scopus 로고    scopus 로고
    • Expression of DAZ , an azoospermia factor candidate, in human spermatogonia
    • Menke DB, Mutter GL, Page DC: Expression of DAZ , an azoospermia factor candidate, in human spermatogonia. Am J Hum Genet 60:237-241 (1997).
    • (1997) Am J Hum Genet , vol.60 , pp. 237-241
    • Menke, D.B.1    Mutter, G.L.2    Page, D.C.3
  • 48
    • 0029004246 scopus 로고
    • Quantified testicular histology in boys with sex chromosome abnormalities
    • Müller J, Skakkebaek NE, Ratcliffe SG: Quantified testicular histology in boys with sex chromosome abnormalities. Int J Androl 18:57-62 (1995).
    • (1995) Int J Androl , vol.18 , pp. 57-62
    • Müller, J.1    Skakkebaek, N.E.2    Ratcliffe, S.G.3
  • 49
    • 1642423571 scopus 로고    scopus 로고
    • The FAM deubiquitylating enzyme localizes to multiple points of protein trafficking in epithelia, where it associates with E-cadherin and beta-catenin
    • Murray RZ, Jolly LA, Wood SA: The FAM deubiquitylating enzyme localizes to multiple points of protein trafficking in epithelia, where it associates with E-cadherin and beta-catenin. Mol Biol Cell 15:1591-1599 (2004).
    • (2004) Mol Biol Cell , vol.15 , pp. 1591-1599
    • Murray, R.Z.1    Jolly, L.A.2    Wood, S.A.3
  • 51
    • 0016811861 scopus 로고
    • Incidence of chromosome aberrations among 11,148 newborn children
    • Nielsen J, Sillesen I: Incidence of chromosome aberrations among 11,148 newborn children. Humangenetik 30:1-12 (1975).
    • (1975) Humangenetik , vol.30 , pp. 1-12
    • Nielsen, J.1    Sillesen, I.2
  • 52
    • 42449135444 scopus 로고    scopus 로고
    • Gene polymorphisms/mutations relevant to abnormal spermatogenesis
    • Nuti F, Krausz C: Gene polymorphisms/mutations relevant to abnormal spermatogenesis. Reprod Biomed Online 16:504-513 (2008).
    • (2008) Reprod Biomed Online , vol.16 , pp. 504-513
    • Nuti, F.1    Krausz, C.2
  • 53
    • 2142808110 scopus 로고    scopus 로고
    • Curt Stern Award address. On low expectation exceeded; or, the genomic salvation of the Y chromosome
    • Page DC:2003 Curt Stern Award address. On low expectation exceeded; or, the genomic salvation of the Y chromosome. Am J Hum Genet 74:399-402 (2004).
    • (2003) Am J Hum Genet , vol.74 , pp. 399-402
    • Page, D.C.1
  • 54
    • 0023263601 scopus 로고
    • Exchange of terminal portions of X- and Y-chromosomal short arms in human XX males
    • Page DC, Brown LG, de la Chapelle A: Exchange of terminal portions of X- and Y-chromosomal short arms in human XX males. Nature 328:437-440 (1987).
    • (1987) Nature , vol.328 , pp. 437-440
    • Page, D.C.1    Brown, L.G.2    de la Chapelle, A.3
  • 55
    • 0029088061 scopus 로고
    • Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene
    • Reijo R, Lee TY, Salo P, Alagappan R, Brown LG, et al: Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene. Nat Genet 10:383-393 (1995).
    • (1995) Nat Genet , vol.10 , pp. 383-393
    • Reijo, R.1    Lee, T.Y.2    Salo, P.3    Alagappan, R.4    Brown, L.G.5
  • 56
    • 0033756262 scopus 로고    scopus 로고
    • DAZ family proteins exist throughout male germ cell development and transit from nucleus to cytoplasm at meiosis in humans and mice
    • Reijo R, Dorfman DM, Slee R, Renshaw AA, Loughlin KR, et al: DAZ family proteins exist throughout male germ cell development and transit from nucleus to cytoplasm at meiosis in humans and mice. Biol Reprod 63:1490-1496 (2000).
    • (2000) Biol Reprod , vol.63 , pp. 1490-1496
    • Reijo, R.1    Dorfman, D.M.2    Slee, R.3    Renshaw, A.A.4    Loughlin, K.R.5
  • 57
    • 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, et al: 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).
    • (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
  • 58
    • 11944268632 scopus 로고    scopus 로고
    • Role of the DAZ genes in male fertility
    • Reynolds N, Cooke HJ: Role of the DAZ genes in male fertility. Reprod Biomed Online 10:72-80 (2005).
    • (2005) Reprod Biomed Online , vol.10 , pp. 72-80
    • Reynolds, N.1    Cooke, H.J.2
  • 61
    • 0032854078 scopus 로고    scopus 로고
    • The critical region of overlap defining the AZFa male infertility interval of proximal Yq contains three transcribed sequences
    • Sargent CA, Boucher CA, Kirsch S, Brown G, Weiss B, et al: The critical region of overlap defining the AZFa male infertility interval of proximal Yq contains three transcribed sequences. J Med Genet 36:670-677 (1999).
    • (1999) J Med Genet , vol.36 , pp. 670-677
    • Sargent, C.A.1    Boucher, C.A.2    Kirsch, S.3    Brown, G.4    Weiss, B.5
  • 62
    • 0034253627 scopus 로고    scopus 로고
    • Four DAZ genes in two clusters found in the AZFc region of the human Y chromosome
    • Saxena R, de Vries JW, Repping S, Alagappan RK, Skaletsky H, et al: Four DAZ genes in two clusters found in the AZFc region of the human Y chromosome. Genomics 67:256-267 (2000).
    • (2000) Genomics , vol.67 , pp. 256-267
    • Saxena, R.1    de Vries, J.W.2    Repping, S.3    Alagappan, R.K.4    Skaletsky, H.5
  • 63
    • 3142664681 scopus 로고    scopus 로고
    • Molecular characterization of heat shock-like factor encoded on the human Y chromosome, and implications for male infertility
    • Shinka T, Sato Y, Chen G, Naroda T, Kinoshita K: Molecular characterization of heat shock-like factor encoded on the human Y chromosome, and implications for male infertility. Biol Reprod 71:297-306 (2004).
    • (2004) Biol Reprod , vol.71 , pp. 297-306
    • Shinka, T.1    Sato, Y.2    Chen, G.3    Naroda, T.4    Kinoshita, K.5
  • 64
    • 0031024316 scopus 로고    scopus 로고
    • Screening for deletions of the Y chromosome involving the DAZ (Deleted in AZoospermia) gene in azoospermia and severe oligozoospermia
    • Simoni M, Gromoll J, Dworniczak B, Rolf C, Abshagen K, et al: Screening for deletions of the Y chromosome involving the DAZ (Deleted in AZoospermia) gene in azoospermia and severe oligozoospermia. Fertil Steril 67:542-547 (1997).
    • (1997) Fertil Steril , vol.67 , pp. 542-547
    • Simoni, M.1    Gromoll, J.2    Dworniczak, B.3    Rolf, C.4    Abshagen, K.5
  • 65
    • 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: EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions. State of the art 2004. Int J Androl 27:240-249 (2004).
    • (2004) Int J Androl , vol.27 , pp. 240-249
    • Simoni, M.1    Bakker, E.2    Krausz, C.3
  • 66
    • 0032145029 scopus 로고    scopus 로고
    • Human sex determination
    • Sinclair AH: Human sex determination. J Exp Zool 281:501-505 (1998).
    • (1998) J Exp Zool , vol.281 , pp. 501-505
    • Sinclair, A.H.1
  • 67
    • 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, et al: The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. Nature 423:825-837 (2003).
    • (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
  • 68
    • 0036468807 scopus 로고    scopus 로고
    • Genome architecture, rearrangements and genomic disorders
    • Stankiewicz P, Lupski JR: Genome architecture, rearrangements and genomic disorders. Trends Genet 18:74-82 (2002).
    • (2002) Trends Genet , vol.18 , pp. 74-82
    • Stankiewicz, P.1    Lupski, J.R.2
  • 69
    • 1042303661 scopus 로고    scopus 로고
    • Expression pattern of the Y-linked PRY gene suggests a function in apoptosis but not in spermatogenesis
    • Stouffs K, Lissens W, Verheyen G, Van Landuyt L, Goossens A: Expression pattern of the Y-linked PRY gene suggests a function in apoptosis but not in spermatogenesis. Mol Hum Reprod 10:15-21 (2004).
    • (2004) Mol Hum Reprod , vol.10 , pp. 15-21
    • Stouffs, K.1    Lissens, W.2    Verheyen, G.3    Van Landuyt, L.4    Goossens, A.5
  • 70
    • 0032727618 scopus 로고    scopus 로고
    • An azoospermic man with a de novo point mutation in the Y-chromosomal gene USP9Y
    • Sun C, Skaletsky H, Birren B, Devon K, Tang Z, et al: An azoospermic man with a de novo point mutation in the Y-chromosomal gene USP9Y. Nat Genet 23:429-432 (1999).
    • (1999) Nat Genet , vol.23 , pp. 429-432
    • Sun, C.1    Skaletsky, H.2    Birren, B.3    Devon, K.4    Tang, Z.5
  • 71
    • 0034703178 scopus 로고    scopus 로고
    • Deletion of azoospermia factor a (AZFa) region of human Y chromosome caused by recombination between HERV15 proviruses
    • Sun C, Skaletsky H, Rozen S, Gromoll J, Nieschlag E, et al: Deletion of azoospermia factor a (AZFa) region of human Y chromosome caused by recombination between HERV15 proviruses. Hum Mol Genet 9:2291-2296 (2000).
    • (2000) Hum Mol Genet , vol.9 , pp. 2291-2296
    • Sun, C.1    Skaletsky, H.2    Rozen, S.3    Gromoll, J.4    Nieschlag, E.5
  • 72
    • 0017119580 scopus 로고
    • Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm
    • Tiepolo L, Zuffardi O: Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm. Hum Genet 34:119-124 (1976).
    • (1976) Hum Genet , vol.34 , pp. 119-124
    • Tiepolo, L.1    Zuffardi, O.2
  • 73
    • 0041914418 scopus 로고    scopus 로고
    • Specific expression of VCY2 in human male germ cells and its involvement in the pathogenesis of male infertility
    • Tse JY, Wong EY, Cheung AN, O WS, Tam PC, Yeung WS: Specific expression of VCY2 in human male germ cells and its involvement in the pathogenesis of male infertility. Biol Reprod 69:746-751 (2003).
    • (2003) Biol Reprod , vol.69 , pp. 746-751
    • Tse, J.Y.1    Wong, E.Y.2    Cheung, A.N.3    WS, O.4    Tam, P.C.5    Yeung, W.S.6
  • 74
    • 34248156426 scopus 로고    scopus 로고
    • Klinefelter syndrome and other sex chromosomal aneuploidies
    • Visootsak J, Graham JM Jr: Klinefelter syndrome and other sex chromosomal aneuploidies. Orphanet J Rare Dis 1:42 (2006).
    • (2006) Orphanet J Rare Dis , vol.1 , pp. 42
    • Visootsak, J.1    Graham Jr, J.M.2
  • 75
    • 21244439839 scopus 로고    scopus 로고
    • AZF deletions and Y chromosomal haplogroups: History and update based on sequence
    • Vogt PH: AZF deletions and Y chromosomal haplogroups: history and update based on sequence. Hum Reprod Update 11:319-336 (2005).
    • (2005) Hum Reprod Update , vol.11 , pp. 319-336
    • Vogt, P.H.1
  • 76
    • 0007272350 scopus 로고    scopus 로고
    • Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11
    • Vogt PH, Edelmann A, Kirsch S, Henegariu O, Hirschmann P, et al: Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11. Hum Mol Genet 5:933-943 (1996).
    • (1996) Hum Mol Genet , vol.5 , pp. 933-943
    • Vogt, P.H.1    Edelmann, A.2    Kirsch, S.3    Henegariu, O.4    Hirschmann, P.5
  • 77
    • 34548776061 scopus 로고    scopus 로고
    • Clinical, endocrinological, and epigenetic features of the 46,XX male syndrome, compared with 47,XXY Klinefelter patients
    • Vorona E, Zitzmann M, Gromoll J, Schuring AN, Nieschlag E: Clinical, endocrinological, and epigenetic features of the 46,XX male syndrome, compared with 47,XXY Klinefelter patients. J Clin Endocr Metab 92:3458-3465 (2007).
    • (2007) J Clin Endocr Metab , vol.92 , pp. 3458-3465
    • Vorona, E.1    Zitzmann, M.2    Gromoll, J.3    Schuring, A.N.4    Nieschlag, E.5
  • 78
    • 0029092140 scopus 로고
    • Human H-Y: A male-specific histocompatibility antigen derived from the SMCY protein
    • Wang W, Meadows LR, den Haan JM, Sherman NE, Chen Y, et al: Human H-Y: a male-specific histocompatibility antigen derived from the SMCY protein. Science 269:1588-1590 (1995).
    • (1995) Science , vol.269 , pp. 1588-1590
    • Wang, W.1    Meadows, L.R.2    den Haan, J.M.3    Sherman, N.E.4    Chen, Y.5
  • 79
    • 1242345152 scopus 로고    scopus 로고
    • Identification and characterization of human VCY2-interacting protein: VCY2IP-1, a microtubule-associated protein-like protein
    • Wong EY, Tse JY, Yao KM, Lui VC, Tam PC, Yeung WS: Identification and characterization of human VCY2-interacting protein: VCY2IP-1, a microtubule-associated protein-like protein. Biol Reprod 70:775-784 (2004).
    • (2004) Biol Reprod , vol.70 , pp. 775-784
    • Wong, E.Y.1    Tse, J.Y.2    Yao, K.M.3    Lui, V.C.4    Tam, P.C.5    Yeung, W.S.6
  • 80
    • 55749103957 scopus 로고    scopus 로고
    • Massive deletion in AZFb/b+c and azoospermia with Sertoli cell only and/or maturation arrest
    • Epub ahead of print
    • Yang Y, Ma MY, Xiao CY, Li L, Li SW, Zhang SZ: Massive deletion in AZFb/b+c and azoospermia with Sertoli cell only and/or maturation arrest. Int J Androl: Epub ahead of print (2007).
    • (2007) Int J Androl
    • Yang, Y.1    Ma, M.Y.2    Xiao, C.Y.3    Li, L.4    Li, S.W.5    Zhang, S.Z.6
  • 81
    • 2642575091 scopus 로고    scopus 로고
    • Putative biological functions of the DAZ family
    • Yen PH: Putative biological functions of the DAZ family. Int J Androl 27:125-129 (2004).
    • (2004) Int J Androl , vol.27 , pp. 125-129
    • Yen, P.H.1
  • 82
    • 10344248169 scopus 로고    scopus 로고
    • X-chromosome inactivation patterns and androgen receptor functionality influence phenotype and social characteristics as well as pharmacogenetics of testosterone therapy in Klinefelter patients
    • Zitzmann M, Depenbusch M, Gromoll J, Nieschlag E: X-chromosome inactivation patterns and androgen receptor functionality influence phenotype and social characteristics as well as pharmacogenetics of testosterone therapy in Klinefelter patients. J Clin Endocrinol Metab 89:6208-6217 (2004).
    • (2004) J Clin Endocrinol Metab , vol.89 , pp. 6208-6217
    • Zitzmann, M.1    Depenbusch, M.2    Gromoll, J.3    Nieschlag, E.4


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