메뉴 건너뛰기




Volumn 49, Issue , 2015, Pages 507-527

The Biology and Evolution of Mammalian y Chromosomes

Author keywords

MSY; Sex chromosomes; Sex determination; Sexual dimorphism; Spermatogenesis; Turner syndrome

Indexed keywords

ARTICLE; AUTOSOME; GENITAL SYSTEM; HUMAN; MAMMAL; MOLECULAR BIOLOGY; MOLECULAR EVOLUTION; NONHUMAN; PRIORITY JOURNAL; SEX CHROMOSOME; SEX DIFFERENCE; SEX TRANSFORMATION; SPERMATOGENESIS; SRY GENE; TESTIS; TURNER SYNDROME; Y CHROMOSOME; ANIMAL; EVOLUTION; GENETICS; HEARING DISORDER; MALE; MOUSE; PHYSIOLOGY; Y CHROMOSOME LINKED DISORDER;

EID: 84948744723     PISSN: 00664197     EISSN: 15452948     Source Type: Book Series    
DOI: 10.1146/annurev-genet-112414-055311     Document Type: Article
Times cited : (112)

References (134)
  • 1
    • 0037186504 scopus 로고    scopus 로고
    • Human spermatozoa: The future of sex
    • Aitken RJ, Marshall Graves JA. 2002. Human spermatozoa: the future of sex. Nature 415:963
    • (2002) Nature , vol.415 , pp. 963
    • Aitken, R.J.1    Marshall, G.J.A.2
  • 2
    • 0019178750 scopus 로고
    • 47,XXY males: Sex chromosomes and tooth size
    • Alvesalo L, Portin P. 1980. 47,XXY males: sex chromosomes and tooth size. Am. J. Hum. Genet. 32:955-59
    • (1980) Am. J. Hum. Genet , vol.32 , pp. 955-959
    • Alvesalo, L.1    Portin, P.2
  • 3
    • 0018869124 scopus 로고
    • Permanent tooth sizes in 46,XY females
    • Alvesalo L, Varrela J. 1980. Permanent tooth sizes in 46,XY females. Am. J. Hum. Genet. 32:736-42
    • (1980) Am. J. Hum. Genet , vol.32 , pp. 736-742
    • Alvesalo, L.1    Varrela, J.2
  • 4
    • 84899473294 scopus 로고    scopus 로고
    • Mammalian y chromosomes retain widely expressed dosage-sensitive regulators
    • Bellott DW,Hughes JF, Skaletsky H, Brown LG, Pyntikova T, et al. 2014. Mammalian Y chromosomes retain widely expressed dosage-sensitive regulators. Nature 508:494-99
    • (2014) Nature , vol.508 , pp. 494-499
    • Bellott, D.W.1    Hughes, J.F.2    Skaletsky, H.3    Brown, L.G.4    Pyntikova, T.5
  • 6
    • 0024462256 scopus 로고
    • Ullrich-Turner syndrome in an XY female fetus with deletion of the sex-determining portion of the y chromosome
    • Blagowidow N, Page DC, Huff D,Mennuti MT. 1989. Ullrich-Turner syndrome in an XY female fetus with deletion of the sex-determining portion of the Y chromosome. Am. J. Med. Genet. 34:159-62
    • (1989) Am. J. Med. Genet , vol.34 , pp. 159-162
    • Blagowidow, N.1    Page, D.C.2    Huff, D.3    Mennuti, M.T.4
  • 7
    • 0014389955 scopus 로고
    • Males with an XYY sex chromosome complement
    • BrownWM. 1968. Males with an XYY sex chromosome complement. J. Med. Genet. 5:341-59
    • (1968) J. Med. Genet , vol.5 , pp. 341-359
    • Brown, W.M.1
  • 8
    • 0032130473 scopus 로고    scopus 로고
    • The role of Y-encoded genes in mammalian spermatogenesis
    • Burgoyne PS. 1998. The role of Y-encoded genes in mammalian spermatogenesis. Semin. Cell Dev. Biol. 9:423-32
    • (1998) Semin. Cell Dev. Biol , vol.9 , pp. 423-432
    • Burgoyne, P.S.1
  • 9
    • 84901008759 scopus 로고    scopus 로고
    • Identification of specific y chromosomes associated with increased prostate cancer risk
    • Cannon-Albright LA, Farnham JM, Bailey M, Albright FS, Teerlink CC, et al. 2014. Identification of specific Y chromosomes associated with increased prostate cancer risk. Prostate 74:991-98
    • (2014) Prostate , vol.74 , pp. 991-998
    • Cannon-Albright, L.A.1    Farnham, J.M.2    Bailey, M.3    Albright, F.S.4    Teerlink, C.C.5
  • 10
    • 0024355010 scopus 로고
    • Molecular analysis of 46,XY females and regional assignment of a new Y-chromosome-specific probe
    • Cantrell MA, Bicknell JN, Pagon RA, Page DC, Walker DC, et al. 1989. Molecular analysis of 46,XY females and regional assignment of a new Y-chromosome-specific probe. Hum. Genet. 83:88-92
    • (1989) Hum. Genet , vol.83 , pp. 88-92
    • Cantrell, M.A.1    Bicknell, J.N.2    Pagon, R.A.3    Page, D.C.4    Walker, D.C.5
  • 11
    • 15244353967 scopus 로고    scopus 로고
    • X-inactivation profile reveals extensive variability in X-linked gene expression in females
    • Carrel L,Willard HF. 2005. X-inactivation profile reveals extensive variability in X-linked gene expression in females. Nature 434:400-4
    • (2005) Nature , vol.434 , pp. 400-404
    • Carrel, L.1    Willard, H.F.2
  • 13
    • 84887100741 scopus 로고    scopus 로고
    • Progress and prospects for genetic modification of nonhuman primate models in biomedical research
    • Chan AW. 2013. Progress and prospects for genetic modification of nonhuman primate models in biomedical research. ILAR J. 54:211-23
    • (2013) ILAR J , vol.54 , pp. 211-223
    • Chan, A.W.1
  • 14
    • 84862778897 scopus 로고    scopus 로고
    • Inheritance of coronary artery disease in men: An analysis of the role of the y chromosome
    • Charchar FJ, Bloomer LD, Barnes TA, Cowley MJ, Nelson CP, et al. 2012. Inheritance of coronary artery disease in men: an analysis of the role of the Y chromosome. Lancet 379:915-22
    • (2012) Lancet , vol.379 , pp. 915-922
    • Charchar, F.J.1    Bloomer, L.D.2    Barnes, T.A.3    Cowley, M.J.4    Nelson, C.P.5
  • 16
    • 0026738541 scopus 로고
    • Continuum of overlapping clones spanning the entire human chromosome 21q
    • Chumakov I, Rigault P, Guillou S, Ougen P, Billaut A, et al. 1992. Continuum of overlapping clones spanning the entire human chromosome 21q. Nature 359:380-87
    • (1992) Nature , vol.359 , pp. 380-387
    • Chumakov, I.1    Rigault, P.2    Guillou, S.3    Ougen, P.4    Billaut, A.5
  • 17
    • 0026129319 scopus 로고
    • A cytogenetic and molecular study of a series of 45,X fetuses and their parents
    • Cockwell A, MacKenzie M, Youings S, Jacobs P. 1991. A cytogenetic and molecular study of a series of 45,X fetuses and their parents. J. Med. Genet. 28:151-55
    • (1991) J. Med. Genet , vol.28 , pp. 151-155
    • Cockwell, A.1    MacKenzie, M.2    Youings, S.3    Jacobs, P.4
  • 19
    • 72949093153 scopus 로고    scopus 로고
    • The multicopy gene Sly represses the sex chromosomes in the male mouse germline after meiosis
    • Cocquet J, Ellis PJ, Yamauchi Y, Mahadevaiah SK, Affara NA, et al. 2009. The multicopy gene Sly represses the sex chromosomes in the male mouse germline after meiosis. PLOS Biol. 7:e1000244
    • (2009) PLOS Biol , vol.7 , pp. e1000244
    • Cocquet, J.1    Ellis, P.J.2    Yamauchi, Y.3    Mahadevaiah, S.K.4    Affara, N.A.5
  • 21
    • 54549102143 scopus 로고    scopus 로고
    • Identification of human haploinsufficient genes and their genomic proximity to segmental duplications
    • Dang VT, Kassahn KS, Marcos AE, Ragan MA. 2008. Identification of human haploinsufficient genes and their genomic proximity to segmental duplications. Eur. J. Hum. Genet. 16:1350-57
    • (2008) Eur. J. Hum. Genet , vol.16 , pp. 1350-1357
    • Dang, V.T.1    Kassahn, K.S.2    Marcos, A.E.3    Ragan, M.A.4
  • 22
    • 0015265706 scopus 로고
    • Analytic review: Nature and origin of males with XX sex chromosomes
    • de la Chapelle A. 1972. Analytic review: nature and origin of males with XX sex chromosomes. Am. J. Hum. Genet. 24:71-105
    • (1972) Am. J. Hum. Genet , vol.24 , pp. 71-105
    • De La Chapelle, A.1
  • 24
    • 0028071181 scopus 로고
    • Determination of the amino acid sequence of rabbit, human, and wheat germ protein synthesis factor eIF-4C by cloning and chemical sequencing
    • Dever TE, Wei CL, Benkowski LA, Browning K, Merrick WC, Hershey JW. 1994. Determination of the amino acid sequence of rabbit, human, and wheat germ protein synthesis factor eIF-4C by cloning and chemical sequencing. J. Biol. Chem. 269:3212-18
    • (1994) J. Biol. Chem , vol.269 , pp. 3212-3218
    • Dever, T.E.1    Wei, C.L.2    Benkowski, L.A.3    Browning, K.4    Merrick, W.C.5    Hershey, J.W.6
  • 25
    • 84870174108 scopus 로고    scopus 로고
    • Dosage compensation of the sex chromosomes
    • Disteche CM. 2012. Dosage compensation of the sex chromosomes. Annu. Rev. Genet. 46:537-60
    • (2012) Annu. Rev. Genet , vol.46 , pp. 537-560
    • Disteche, C.M.1
  • 26
    • 0023014121 scopus 로고
    • Small deletions of the short arm of the y chromosome in 46,XY females
    • Disteche CM, Casanova M, Saal H, Friedman C, Sybert V, et al. 1986. Small deletions of the short arm of the Y chromosome in 46,XY females. PNAS 83:7841-44
    • (1986) PNAS , vol.83 , pp. 7841-7844
    • Disteche, C.M.1    Casanova, M.2    Saal, H.3    Friedman, C.4    Sybert, V.5
  • 28
    • 84922481318 scopus 로고    scopus 로고
    • Mutagenesis Smoking is associated with mosaic loss of chromosome y
    • Dumanski JP, Rasi C, Lonn M, Davies H, Ingelsson M, et al. 2015. Mutagenesis. Smoking is associated with mosaic loss of chromosome Y. Science 347:81-83
    • (2015) Science , vol.347 , pp. 81-83
    • Dumanski, J.P.1    Rasi, C.2    Lonn, M.3    Davies, H.4    Ingelsson, M.5
  • 29
    • 76549210828 scopus 로고
    • Karyotype-phenotype correlations in gonadal dysgenesis and their bearing on the pathogenesis of malformations
    • Ferguson-Smith MA. 1965. Karyotype-phenotype correlations in gonadal dysgenesis and their bearing on the pathogenesis of malformations. J. Med. Genet. 2:142-55
    • (1965) J. Med. Genet , vol.2 , pp. 142-155
    • Ferguson-Smith, M.A.1
  • 30
    • 0025633118 scopus 로고
    • Homologous ribosomal protein genes on the human X and y chromosomes: Escape from X inactivation and possible implications for Turner syndrome
    • Fisher EM, Beer-Romero P, Brown LG, Ridley A, McNeil JA, et al. 1990. Homologous ribosomal protein genes on the human X and Y chromosomes: escape from X inactivation and possible implications for Turner syndrome. Cell 63:1205-18
    • (1990) Cell , vol.63 , pp. 1205-1218
    • Fisher, E.M.1    Beer-Romero, P.2    Brown, L.G.3    Ridley, A.4    McNeil, J.A.5
  • 31
    • 0026726412 scopus 로고
    • The human y chromosome: Overlapping DNA clones spanning the euchromatic region
    • Foote S, Vollrath D, Hilton A, Page DC. 1992. The human Y chromosome: overlapping DNA clones spanning the euchromatic region. Science 258:60-66
    • (1992) Science , vol.258 , pp. 60-66
    • Foote, S.1    Vollrath, D.2    Hilton, A.3    Page, D.C.4
  • 32
    • 49749223893 scopus 로고
    • A sex-chromosome anomaly in a case of gonadal dysgenesis (Turner's syndrome)
    • Ford CE, Jones KW, Polani PE, De Almeida JC, Briggs JH. 1959. A sex-chromosome anomaly in a case of gonadal dysgenesis (Turner's syndrome). Lancet 1:711-13
    • (1959) Lancet , vol.1 , pp. 711-713
    • Ford, C.E.1    Jones, K.W.2    Polani, P.E.3    De Almeida, J.C.4    Briggs, J.H.5
  • 33
    • 84901682843 scopus 로고    scopus 로고
    • Mosaic loss of chromosome y in peripheral blood is associated with shorter survival and higher risk of cancer
    • Forsberg LA, Rasi C, Malmqvist N, Davies H, Pasupulati S, et al. 2014. Mosaic loss of chromosome Y in peripheral blood is associated with shorter survival and higher risk of cancer. Nat. Genet. 46:624-28
    • (2014) Nat. Genet , vol.46 , pp. 624-628
    • Forsberg, L.A.1    Rasi, C.2    Malmqvist, N.3    Davies, H.4    Pasupulati, S.5
  • 34
    • 34147117905 scopus 로고    scopus 로고
    • Zfx controls the selfrenewal of embryonic and hematopoietic stem cells
    • Galan-Caridad JM, Harel S, Arenzana TL, Hou ZE, Doetsch FK, et al. 2007. Zfx controls the selfrenewal of embryonic and hematopoietic stem cells. Cell 129:345-57
    • (2007) Cell , vol.129 , pp. 345-357
    • Galan-Caridad, J.M.1    Harel, S.2    Arenzana, T.L.3    Hou, Z.E.4    Doetsch, F.K.5
  • 35
    • 84904973044 scopus 로고    scopus 로고
    • Deletion of CDY1b copy of y chromosome CDY1 gene is a risk factor of male infertility in Tunisian men
    • Ghorbel M, Baklouti-Gargouri S, Keskes R, Chakroun N, Sellami A, et al. 2014. Deletion of CDY1b copy of Y chromosome CDY1 gene is a risk factor of male infertility in Tunisian men. Gene 548:251-55
    • (2014) Gene , vol.548 , pp. 251-255
    • Ghorbel, M.1    Baklouti-Gargouri, S.2    Keskes, R.3    Chakroun, N.4    Sellami, A.5
  • 36
    • 70349923423 scopus 로고    scopus 로고
    • TSPY1 copy number variation influences spermatogenesis and shows differences among y lineages
    • Giachini C, Nuti F, Turner DJ, Laface I, Xue Y, et al. 2009. TSPY1 copy number variation influences spermatogenesis and shows differences among Y lineages. J. Clin. Endocrinol. Metab. 94:4016-22
    • (2009) J. Clin. Endocrinol. Metab , vol.94 , pp. 4016-4022
    • Giachini, C.1    Nuti, F.2    Turner, D.J.3    Laface, I.4    Xue, Y.5
  • 37
    • 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. 12:1635-41
    • (1997) Hum. Reprod , vol.12 , pp. 1635-1641
    • Girardi, S.K.1    Mielnik, A.2    Schlegel, P.N.3
  • 38
    • 4444299012 scopus 로고    scopus 로고
    • The degenerate y chromosome: Can conversion save it
    • Graves JA. 2004. The degenerate Y chromosome: Can conversion save it? Reprod. Fertil. Dev. 16:527-34
    • (2004) Reprod. Fertil. Dev , vol.16 , pp. 527-534
    • Graves, J.A.1
  • 39
    • 33644761962 scopus 로고    scopus 로고
    • Sex chromosome specialization and degeneration in mammals
    • Graves JA. 2006. Sex chromosome specialization and degeneration in mammals. Cell 124:901-14
    • (2006) Cell , vol.124 , pp. 901-914
    • Graves, J.A.1
  • 40
    • 11844290658 scopus 로고    scopus 로고
    • Epidemiological, endocrine and metabolic features in Turner syndrome
    • Gravholt CH. 2004. Epidemiological, endocrine and metabolic features in Turner syndrome. Eur. J. Endocrinol. 151:657-87
    • (2004) Eur. J. Endocrinol , vol.151 , pp. 657-687
    • Gravholt, C.H.1
  • 41
    • 84873093580 scopus 로고    scopus 로고
    • Neurocognitive variance and neurological underpinnings of the X and y chromosomal variations
    • Gropman A, Samango-Sprouse CA. 2013. Neurocognitive variance and neurological underpinnings of the X and Y chromosomal variations. Am. J. Med. Genet. C Semin. Med. Genet. 163C:35-43
    • (2013) Am. J. Med. Genet. C Semin. Med. Genet , vol.163 C , pp. 35-43
    • Gropman, A.1    Samango-Sprouse, C.A.2
  • 42
    • 0025328296 scopus 로고
    • A gene mapping to the sexdetermining region of the mouseYchromosome is amember of a novel family of embryonically expressed genes
    • Gubbay J, Collignon J, Koopman P, Capel B, Economou A, et al. 1990. A gene mapping to the sexdetermining region of the mouseYchromosome is amember of a novel family of embryonically expressed genes. Nature 346:245-50
    • (1990) Nature , vol.346 , pp. 245-250
    • Gubbay, J.1    Collignon, J.2    Koopman, P.3    Capel, B.4    Economou, A.5
  • 44
    • 0023930140 scopus 로고
    • Cytogenetic and molecular analysis of sex-chromosomemonosomy
    • Hassold T, Benham F, Leppert M. 1988. Cytogenetic and molecular analysis of sex-chromosomemonosomy. Am. J. Hum. Genet. 42:534-41
    • (1988) Am. J. Hum. Genet , vol.42 , pp. 534-541
    • Hassold, T.1    Benham, F.2    Leppert, M.3
  • 45
    • 0020634258 scopus 로고
    • The distribution of chromosomal genotypes associated with Turner's syndrome: Livebirth prevalence rates and evidence for diminished fetalmortality and severity in genotypes associated with structural X abnormalities or mosaicism
    • Hook EB, Warburton D. 1983. The distribution of chromosomal genotypes associated with Turner's syndrome: livebirth prevalence rates and evidence for diminished fetalmortality and severity in genotypes associated with structural X abnormalities or mosaicism. Hum. Genet. 64:24-27
    • (1983) Hum. Genet , vol.64 , pp. 24-27
    • Hook, E.B.1    Warburton, D.2
  • 46
    • 84897022652 scopus 로고    scopus 로고
    • Turner syndrome revisited: Review of new data supports the hypothesis that all viable 45,X cases are cryptic mosaics with a rescue cell line, implying an origin by mitotic loss
    • Hook EB,Warburton D. 2014. Turner syndrome revisited: review of new data supports the hypothesis that all viable 45,X cases are cryptic mosaics with a rescue cell line, implying an origin by mitotic loss. Hum. Genet. 133:417-24
    • (2014) Hum. Genet , vol.133 , pp. 417-424
    • Hook, E.B.1    Warburton, D.2
  • 48
    • 84868475835 scopus 로고    scopus 로고
    • Genomics and genetics of human and primate y chromosomes
    • Hughes JF, Rozen S. 2012. Genomics and genetics of human and primate Y chromosomes. Annu. Rev. Genomics Hum. Genet. 13:83-108
    • (2012) Annu. Rev. Genomics Hum. Genet , vol.13 , pp. 83-108
    • Hughes, J.F.1    Rozen, S.2
  • 49
    • 84862777341 scopus 로고    scopus 로고
    • Strict evolutionary conservation followed rapid gene loss on human and rhesus y chromosomes
    • Hughes JF, Skaletsky H, Brown LG, Pyntikova T, Graves T, et al. 2012. Strict evolutionary conservation followed rapid gene loss on human and rhesus Y chromosomes. Nature 483:82-86
    • (2012) Nature , vol.483 , pp. 82-86
    • Hughes, J.F.1    Skaletsky, H.2    Brown, L.G.3    Pyntikova, T.4    Graves, T.5
  • 50
    • 75749129731 scopus 로고    scopus 로고
    • Chimpanzee and human y chromosomes are remarkably divergent in structure and gene content
    • Hughes JF, Skaletsky H, Pyntikova T, Graves TA, van Daalen SK, et al. 2010. Chimpanzee and human Y chromosomes are remarkably divergent in structure and gene content. Nature 463:536-39
    • (2010) Nature , vol.463 , pp. 536-539
    • Hughes, J.F.1    Skaletsky, H.2    Pyntikova, T.3    Graves, T.A.4    Van Daalen, S.K.5
  • 51
    • 27744516505 scopus 로고    scopus 로고
    • Conservation of Y-linked genes during human evolution revealed by comparative sequencing in chimpanzee
    • Hughes JF, Skaletsky H, Pyntikova T, Minx PJ, Graves T, et al. 2005. Conservation of Y-linked genes during human evolution revealed by comparative sequencing in chimpanzee. Nature 437:100-3
    • (2005) Nature , vol.437 , pp. 100-103
    • Hughes, J.F.1    Skaletsky, H.2    Pyntikova, T.3    Minx, P.J.4    Graves, T.5
  • 53
    • 33747686159 scopus 로고
    • A case of human intersexuality having a possible XXY sex determining mechanism
    • Jacobs PA, Strong JA. 1959. A case of human intersexuality having a possible XXY sex determining mechanism. Nature 183:302-3
    • (1959) Nature , vol.183 , pp. 302-303
    • Jacobs, P.A.1    Strong, J.A.2
  • 54
    • 0025258480 scopus 로고
    • A human XY female with a frame shift mutation in the candidate testis-determining gene SRY
    • Jager RJ, Anvret M, Hall K, Scherer G. 1990. A human XY female with a frame shift mutation in the candidate testis-determining gene SRY. Nature 348:452-54
    • (1990) Nature , vol.348 , pp. 452-454
    • Jager, R.J.1    Anvret, M.2    Hall, K.3    Scherer, G.4
  • 55
    • 0032552194 scopus 로고    scopus 로고
    • A proposed path by which genes common to mammalian X and y chromosomes evolve to become X inactivated
    • Jegalian K, Page DC. 1998. A proposed path by which genes common to mammalian X and Y chromosomes evolve to become X inactivated. Nature 394:776-80
    • (1998) Nature , vol.394 , pp. 776-780
    • Jegalian, K.1    Page, D.C.2
  • 56
    • 0028584443 scopus 로고
    • A set of ninety-seven overlapping yeast artificial chromosome clones spanning the humanYchromosome euchromatin
    • JonesMH, Khwaja OS, Briggs H, Lambson B, Davey PM, et al. 1994. A set of ninety-seven overlapping yeast artificial chromosome clones spanning the humanYchromosome euchromatin. Genomics 24:266-75
    • (1994) Genomics , vol.24 , pp. 266-275
    • Jones, M.H.1    Khwaja, O.S.2    Briggs, H.3    Lambson, B.4    Davey, P.M.5
  • 57
    • 0028114292 scopus 로고
    • PCR analysis of the y chromosome long arm in azoospermic patients: Evidence for a second locus required for spermatogenesis
    • Kobayashi K,Mizuno K, Hida A, Komaki R, Tomita K, et al. 1994. PCR analysis of the Y chromosome long arm in azoospermic patients: evidence for a second locus required for spermatogenesis. Hum. Mol. Genet. 3:1965-67
    • (1994) Hum. Mol. Genet , vol.3 , pp. 1965-1967
    • Kobayashi, K.1    Mizuno, K.2    Hida, A.3    Komaki, R.4    Tomita, K.5
  • 58
    • 0024785707 scopus 로고
    • Zfy gene expression patterns are not compatible with a primary role in mouse sex determination
    • Koopman P, Gubbay J, Collignon J, Lovell-Badge R. 1989. Zfy gene expression patterns are not compatible with a primary role in mouse sex determination. Nature 342:940-42
    • (1989) Nature , vol.342 , pp. 940-942
    • Koopman, P.1    Gubbay, J.2    Collignon, J.3    Lovell-Badge, R.4
  • 60
    • 0025243412 scopus 로고
    • Expression of a candidate sex-determining gene during mouse testis differentiation
    • Koopman P, Munsterberg A, Capel B, Vivian N, Lovell-Badge R. 1990. Expression of a candidate sex-determining gene during mouse testis differentiation. Nature 348:450-52
    • (1990) Nature , vol.348 , pp. 450-452
    • Koopman, P.1    Munsterberg, A.2    Capel, B.3    Vivian, N.4    Lovell-Badge, R.5
  • 61
    • 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. 2001. The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men. Nat. Genet. 29:279-86
    • (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
  • 62
    • 0033978639 scopus 로고    scopus 로고
    • A human sex-chromosomal gene family expressed in male germ cells and encoding variably charged proteins
    • Lahn BT, Page DC. 2000. A human sex-chromosomal gene family expressed in male germ cells and encoding variably charged proteins. Hum. Mol. Genet. 9:311-19
    • (2000) Hum. Mol. Genet , vol.9 , pp. 311-319
    • Lahn, B.T.1    Page, D.C.2
  • 63
    • 0033615708 scopus 로고    scopus 로고
    • Four evolutionary strata on the human X chromosome
    • Lahn BT, Page DC. 1999. Four evolutionary strata on the human X chromosome. Science 286:964-67
    • (1999) Science , vol.286 , pp. 964-967
    • Lahn, B.T.1    Page, D.C.2
  • 64
    • 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 278:675-80
    • (1997) Science , vol.278 , pp. 675-680
    • Lahn, B.T.1    Page, D.C.2
  • 65
    • 35148898348 scopus 로고    scopus 로고
    • A histone H3 lysine 27 demethylase regulates animal posterior development
    • Lan F, Bayliss PE, Rinn JL, Whetstine JR, Wang JK, et al. 2007. A histone H3 lysine 27 demethylase regulates animal posterior development. Nature 449:689-94
    • (2007) Nature , vol.449 , pp. 689-694
    • Lan, F.1    Bayliss, P.E.2    Rinn, J.L.3    Whetstine, J.R.4    Wang, J.K.5
  • 66
    • 69649094480 scopus 로고    scopus 로고
    • Isodicentric y chromosomes and sex disorders as byproducts of homologous recombination thatmaintains palindromes
    • Lange J, Skaletsky H, van Daalen SK, Embry SL, Korver CM, et al. 2009. Isodicentric Y chromosomes and sex disorders as byproducts of homologous recombination thatmaintains palindromes. Cell 138:855-69
    • (2009) Cell , vol.138 , pp. 855-869
    • Lange, J.1    Skaletsky, H.2    Van Daalen, S.K.3    Embry, S.L.4    Korver, C.M.5
  • 67
    • 42649125261 scopus 로고    scopus 로고
    • Familial deletion within NLGN4 associated with autism and Tourette syndrome
    • Lawson-Yuen A, Saldivar JS, Sommer S, Picker J. 2008. Familial deletion within NLGN4 associated with autism and Tourette syndrome. Eur. J. Hum. Genet. 16:614-18
    • (2008) Eur. J. Hum. Genet , vol.16 , pp. 614-618
    • Lawson-Yuen, A.1    Saldivar, J.S.2    Sommer, S.3    Picker, J.4
  • 68
    • 49249132005 scopus 로고    scopus 로고
    • Human DDX3 functions in translation and interacts with the translation initiation factor eIF3
    • Lee CS, Dias AP, Jedrychowski M, Patel AH, Hsu JL, Reed R. 2008. Human DDX3 functions in translation and interacts with the translation initiation factor eIF3. Nucleic Acids Res. 36:4708-18
    • (2008) Nucleic Acids Res , vol.36 , pp. 4708-4718
    • Lee, C.S.1    Dias, A.P.2    Jedrychowski, M.3    Patel, A.H.4    Hsu, J.L.5    Reed, R.6
  • 69
    • 84867076609 scopus 로고    scopus 로고
    • Dosage effects of X and y chromosomes on language and social functioning in children with supernumerary sex chromosome aneuploidies: Implications for idiopathic language impairment and autism spectrum disorders
    • Lee NR, Wallace GL, Adeyemi EI, Lopez KC, Blumenthal JD, et al. 2012. Dosage effects of X and Y chromosomes on language and social functioning in children with supernumerary sex chromosome aneuploidies: implications for idiopathic language impairment and autism spectrum disorders. J. Child Psychol. Psychiatry 53:1072-81
    • (2012) J. Child Psychol. Psychiatry , vol.53 , pp. 1072-1081
    • Lee, N.R.1    Wallace, G.L.2    Adeyemi, E.I.3    Lopez, K.C.4    Blumenthal, J.D.5
  • 70
    • 84855957128 scopus 로고    scopus 로고
    • UTX, a histone H3-lysine 27 demethylase, acts as a critical switch to activate the cardiac developmental program
    • Lee S, Lee JW, Lee SK. 2012. UTX, a histone H3-lysine 27 demethylase, acts as a critical switch to activate the cardiac developmental program. Dev. Cell 22:25-37
    • (2012) Dev. Cell , vol.22 , pp. 25-37
    • Lee, S.1    Lee, J.W.2    Lee, S.K.3
  • 71
    • 0024566993 scopus 로고
    • Exchange of terminal portions of X-and Ychromosomal short arms in human XY females
    • Levilliers J, Quack B, Weissenbach J, Petit C. 1989. Exchange of terminal portions of X-and Ychromosomal short arms in human XY females. PNAS 86:2296-300
    • (1989) PNAS , vol.86 , pp. 2296-2300
    • Levilliers, J.1    Quack, B.2    Weissenbach, J.3    Petit, C.4
  • 72
    • 84876474042 scopus 로고    scopus 로고
    • Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate
    • Lindgren AM, Hoyos T, Talkowski ME, Hanscom C, Blumenthal I, et al. 2013. Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate. Hum. Genet. 132:537-52
    • (2013) Hum. Genet , vol.132 , pp. 537-552
    • Lindgren, A.M.1    Hoyos, T.2    Talkowski, M.E.3    Hanscom, C.4    Blumenthal, I.5
  • 74
    • 84906058191 scopus 로고    scopus 로고
    • Gene copy number alterations in the azoospermiaassociated AZFc region and their effect on spermatogenic impairment
    • Lu C, Jiang J, Zhang R, Wang Y, Xu M, et al. 2014. Gene copy number alterations in the azoospermiaassociated AZFc region and their effect on spermatogenic impairment. Mol. Hum. Reprod. 20:836-43
    • (2014) Mol. Hum. Reprod , vol.20 , pp. 836-843
    • Lu, C.1    Jiang, J.2    Zhang, R.3    Wang, Y.4    Xu, M.5
  • 75
    • 84883143003 scopus 로고    scopus 로고
    • DAZ duplications confer the predisposition of y chromosome haplogroup K∗ To non-obstructive azoospermia in Han Chinese populations
    • Lu C, Wang Y, Zhang F, Lu F, Xu M, et al. 2013. DAZ duplications confer the predisposition of Y chromosome haplogroup K∗ to non-obstructive azoospermia in Han Chinese populations. Hum. Reprod. 28:2440-49
    • (2013) Hum. Reprod , vol.28 , pp. 2440-2449
    • Lu, C.1    Wang, Y.2    Zhang, F.3    Lu, F.4    Xu, M.5
  • 76
    • 0021687650 scopus 로고
    • Turner syndrome resulting from partial deletion of y chromosome short arm: Localization ofmale determinants
    • Magenis RE, Tochen ML,Holahan KP,Carey T, Allen L, Brown MG. 1984. Turner syndrome resulting from partial deletion of Y chromosome short arm: localization ofmale determinants. J. Pediatr. 105:916-19
    • (1984) J. Pediatr , vol.105 , pp. 916-919
    • Magenis, R.E.1    Tochen, M.L.2    Holahan, K.P.3    Carey, T.4    Allen, L.5    Brown, M.G.6
  • 77
    • 85017411131 scopus 로고    scopus 로고
    • A Y-encoded subunit of the translation initiation factor Eif2 is essential for mouse spermatogenesis
    • Mazeyrat S, Saut N, Grigoriev V, Mahadevaiah SK, Ojarikre OA, et al. 2001. A Y-encoded subunit of the translation initiation factor Eif2 is essential for mouse spermatogenesis. Nat. Genet. 29:49-53
    • (2001) Nat. Genet , vol.29 , pp. 49-53
    • Mazeyrat, S.1    Saut, N.2    Grigoriev, V.3    Mahadevaiah, S.K.4    Ojarikre, O.A.5
  • 78
    • 7344222765 scopus 로고    scopus 로고
    • The mouse y chromosome interval necessary for spermatogonial proliferation is gene dense with syntenic homology to the human AZFa region
    • Mazeyrat S, Saut N, Sargent CA, Grimmond S, Longepied G, et al. 1998. The mouse Y chromosome interval necessary for spermatogonial proliferation is gene dense with syntenic homology to the human AZFa region. Hum. Mol. Genet. 7:1713-24
    • (1998) Hum. Mol. Genet , vol.7 , pp. 1713-1724
    • Mazeyrat, S.1    Saut, N.2    Sargent, C.A.3    Grimmond, S.4    Longepied, G.5
  • 79
    • 0023787411 scopus 로고
    • Location of the genes controlling H-Y antigen expression and testis determination on the mouse y chromosome
    • McLaren A, Simpson E, Epplen JT, Studer R, Koopman P, et al. 1988. Location of the genes controlling H-Y antigen expression and testis determination on the mouse Y chromosome. PNAS 85:6442-45
    • (1988) PNAS , vol.85 , pp. 6442-6445
    • McLaren, A.1    Simpson, E.2    Epplen, J.T.3    Studer, R.4    Koopman, P.5
  • 80
    • 0026655944 scopus 로고
    • Sex determination and sex reversal: Genotype, phenotype, dogma, and semantics
    • Mittwoch U. 1992. Sex determination and sex reversal: genotype, phenotype, dogma, and semantics. Hum. Genet. 89:467-79
    • (1992) Hum. Genet , vol.89 , pp. 467-479
    • Mittwoch, U.1
  • 82
    • 50549201557 scopus 로고
    • The relation of recombination to mutational advance
    • Muller HJ. 1964. The relation of recombination to mutational advance. Mutat. Res. 106:2-9
    • (1964) Mutat. Res , vol.106 , pp. 2-9
    • Muller, H.J.1
  • 83
    • 0029798989 scopus 로고    scopus 로고
    • The y chromosome region essential for spermatogenesis
    • Nakahori Y, Kuroki Y, Komaki R, Kondoh N, Namiki M, et al. 1996. The Y chromosome region essential for spermatogenesis. Horm. Res. 46(Suppl. 1):20-23
    • (1996) Horm. Res , vol.46 , pp. 20-23
    • Nakahori, Y.1    Kuroki, Y.2    Komaki, R.3    Kondoh, N.4    Namiki, M.5
  • 84
    • 79957480628 scopus 로고    scopus 로고
    • Gene copy number reduction in the azoospermia factor c (AZFc) region and its effect on total motile sperm count
    • NoordamMJ, WesterveldGH, Hovingh SE, vanDaalen SK, Korver CM, et al. 2011. Gene copy number reduction in the azoospermia factor c (AZFc) region and its effect on total motile sperm count. Hum. Mol. Genet. 20:2457-63
    • (2011) Hum. Mol. Genet , vol.20 , pp. 2457-2463
    • Noordam, M.J.1    Westerveld, G.H.2    Hovingh, S.E.3    VanDaalen, S.K.4    Korver, C.M.5
  • 86
    • 0024236929 scopus 로고
    • Is ZFY the sex-determining gene on the human y chromosome
    • Page DC. 1988. Is ZFY the sex-determining gene on the human Y chromosome? Philos. Trans. R. Soc. B 322:155-57
    • (1988) Philos. Trans. R. Soc. B , vol.322 , pp. 155-157
    • Page, D.C.1
  • 87
    • 0023663890 scopus 로고
    • The sex-determining region of the human y chromosome encodes a finger protein
    • Page DC, Mosher R, Simpson EM, Fisher EM, Mardon G, et al. 1987. The sex-determining region of the human Y chromosome encodes a finger protein. Cell 51:1091-104
    • (1987) Cell , vol.51 , pp. 1091-1104
    • Page, D.C.1    Mosher, R.2    Simpson, E.M.3    Fisher, E.M.4    Mardon, G.5
  • 89
    • 53649099479 scopus 로고    scopus 로고
    • Gene discovery and comparative analysis of X-degenerate genes from the domestic cat y chromosome
    • Pearks Wilkerson AJ, Raudsepp T, Graves T, Albracht D,Warren W, et al. 2008. Gene discovery and comparative analysis of X-degenerate genes from the domestic cat Y chromosome. Genomics 92:329-38
    • (2008) Genomics , vol.92 , pp. 329-338
    • Pearks, W.A.J.1    Raudsepp, T.2    Graves, T.3    Albracht, D.4    Warren, W.5
  • 90
    • 84867000668 scopus 로고    scopus 로고
    • The molecular genetics of sex determination and sex reversal in mammals
    • Quinn A, Koopman P. 2012. The molecular genetics of sex determination and sex reversal in mammals. Semin. Reprod. Med. 30:351-63
    • (2012) Semin. Reprod. Med , vol.30 , pp. 351-363
    • Quinn, A.1    Koopman, P.2
  • 91
    • 0030253042 scopus 로고    scopus 로고
    • Polymerase chain reaction screening for y chromosome microdeletions: A first step towards the diagnosis of genetically-determined spermatogenic failure in men
    • Qureshi SJ, Ross AR,MaK,CookeHJ, IntyreMA, et al. 1996. Polymerase chain reaction screening for Y chromosome microdeletions: a first step towards the diagnosis of genetically-determined spermatogenic failure in men. Mol. Hum. Reprod. 2:775-79
    • (1996) Mol. Hum. Reprod , vol.2 , pp. 775-779
    • Qureshi, S.J.1    Ross, A.R.2    Ma, K.3    Cooke, H.J.4    Intyre, M.A.5
  • 92
    • 0030940217 scopus 로고    scopus 로고
    • Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome
    • Rao E,Weiss B, Fukami M, Rump A, Niesler B, et al. 1997. Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. Nat. Genet. 16:54-63
    • (1997) Nat. Genet , vol.16 , pp. 54-63
    • Rao, E.1    Weiss, B.2    Fukami, M.3    Rump, A.4    Niesler, B.5
  • 93
    • 0029871858 scopus 로고    scopus 로고
    • Severe oligozoospermia resulting from deletions of azoospermia factor gene on y chromosome
    • Reijo R, Alagappan RK, Patrizio P, Page DC. 1996. Severe oligozoospermia resulting from deletions of azoospermia factor gene on Y chromosome. Lancet 347:1290-93
    • (1996) Lancet , vol.347 , pp. 1290-1293
    • Reijo, R.1    Alagappan, R.K.2    Patrizio, P.3    Page, D.C.4
  • 94
    • 0029088061 scopus 로고
    • Diverse spermatogenic defects in humans caused byYchromosome deletions encompassing a novel RNA-binding protein gene
    • Reijo R, Lee TY, Salo P, Alagappan R, Brown LG, et al. 1995. Diverse spermatogenic defects in humans caused byYchromosome deletions encompassing a novel RNA-binding protein gene. Nat. Genet. 10:383-93
    • (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
  • 96
    • 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. 2002. Recombination between palindromes P5 and P1 on the human Y chromosome causes massive deletions and spermatogenic failure. Am. J. Hum. Genet. 71:906-22
    • (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
  • 97
    • 2642530984 scopus 로고    scopus 로고
    • A family of human y chromosomes has dispersed throughout northern Eurasia despite a 1 8-Mb deletion in the azoospermia factor c region
    • Repping S, van Daalen SK, Korver CM, Brown LG, Marszalek JD, et al. 2004. A family of human Y chromosomes has dispersed throughout northern Eurasia despite a 1.8-Mb deletion in the azoospermia factor c region. Genomics 83:1046-52
    • (2004) Genomics , vol.83 , pp. 1046-1052
    • Repping, S.1    Van Daalen, S.K.2    Korver, C.M.3    Brown, L.G.4    Marszalek, J.D.5
  • 98
    • 34547480445 scopus 로고    scopus 로고
    • Expression analysis of the mouse multi-copy X-linked gene Xlr-related, meiosis-regulated (Xmr), reveals that Xmr encodes a spermatid-expressed cytoplasmic protein, SLX/XMR
    • Reynard LN, Turner JM, Cocquet J, Mahadevaiah SK, Toure A, et al. 2007. Expression analysis of the mouse multi-copy X-linked gene Xlr-related, meiosis-regulated (Xmr), reveals that Xmr encodes a spermatid-expressed cytoplasmic protein, SLX/XMR. Biol. Reprod. 77:329-35
    • (2007) Biol. Reprod , vol.77 , pp. 329-335
    • Reynard, L.N.1    Turner, J.M.2    Cocquet, J.3    Mahadevaiah, S.K.4    Toure, A.5
  • 99
    • 0001004643 scopus 로고    scopus 로고
    • Evolution of the y sex chromosome in animals
    • Rice WR. 1996. Evolution of the Y sex chromosome in animals. BioScience 46:331-43
    • (1996) BioScience , vol.46 , pp. 331-343
    • Rice, W.R.1
  • 101
    • 84868455604 scopus 로고    scopus 로고
    • AZFc deletions and spermatogenic failure: A population-based survey of 20,000 y chromosomes
    • Rozen SG, Marszalek JD, Irenze K, Skaletsky H, Brown LG, et al. 2012. AZFc deletions and spermatogenic failure: a population-based survey of 20,000 Y chromosomes. Am. J. Hum. Genet. 91:890-96
    • (2012) Am. J. Hum. Genet , vol.91 , pp. 890-896
    • Rozen, S.G.1    Marszalek, J.D.2    Irenze, K.3    Skaletsky, H.4    Brown, L.G.5
  • 102
    • 77149178699 scopus 로고    scopus 로고
    • Identification and characterization of two novel JARID1C mutations: Suggestion of an emerging genotype-phenotype correlation
    • Rujirabanjerd S, Nelson J, Tarpey PS,HackettA, Edkins S, et al. 2010. Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation. Eur. J. Hum. Genet. 18:330-35
    • (2010) Eur. J. Hum. Genet , vol.18 , pp. 330-335
    • Rujirabanjerd, S.1    Nelson, J.2    Tarpey, P.S.3    Hackett, A.4    Edkins, S.5
  • 103
    • 4644222719 scopus 로고    scopus 로고
    • Human DDX3Y, the Y-encoded isoform of RNA helicase DDX3, rescues a hamster temperature-sensitive ET24mutant cell line with aDDX3Xmutation
    • Sekiguchi T, Iida H, Fukumura J, Nishimoto T. 2004. Human DDX3Y, the Y-encoded isoform of RNA helicase DDX3, rescues a hamster temperature-sensitive ET24mutant cell line with aDDX3Xmutation. Exp. Cell Res. 300:213-22
    • (2004) Exp. Cell Res , vol.300 , pp. 213-222
    • Sekiguchi, T.1    Iida, H.2    Fukumura, J.3    Nishimoto, T.4
  • 104
    • 84866912634 scopus 로고    scopus 로고
    • UTX and UTY demonstrate histone demethylase-independent function in mouse embryonic development
    • Shpargel KB, Sengoku T, Yokoyama S, Magnuson T. 2012. UTX and UTY demonstrate histone demethylase-independent function in mouse embryonic development. PLOS Genet. 8:e1002964
    • (2012) PLOS Genet , vol.8 , pp. e1002964
    • Shpargel, K.B.1    Sengoku, T.2    Yokoyama, S.3    Magnuson, T.4
  • 105
    • 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. 1997. Screening for deletions of the Y chromosome involving the DAZ (Deleted in AZoospermia) gene in azoospermia and severe oligozoospermia. Fertil. Steril. 67:542-47
    • (1997) Fertil. Steril , vol.67 , pp. 542-547
    • Simoni, M.1    Gromoll, J.2    Dworniczak, B.3    Rolf, C.4    Abshagen, K.5
  • 106
    • 0025364886 scopus 로고
    • A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif
    • Sinclair AH, Berta P, Palmer MS, Hawkins JR, Griffiths BL, et al. 1990. A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif. Nature 346:240-44
    • (1990) Nature , vol.346 , pp. 240-244
    • Sinclair, A.H.1    Berta, P.2    Palmer, M.S.3    Hawkins, J.R.4    Griffiths, B.L.5
  • 107
    • 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. 2003. The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. Nature 423:825-37
    • (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
  • 108
    • 84910036383 scopus 로고    scopus 로고
    • Sequencing the mouseYchromosome reveals convergent gene acquisition and amplification on both sex chromosomes
    • SohYQS,Alfoldi J, Pyntikova T, BrownLG, Graves T, et al. 2014. Sequencing the mouseYchromosome reveals convergent gene acquisition and amplification on both sex chromosomes. Cell 159:800-13
    • (2014) Cell , vol.159 , pp. 800-813
    • Soh, Y.Q.S.1    Alfoldi, J.2    Pyntikova, T.3    Brown, L.G.4    Graves, T.5
  • 109
    • 0038465808 scopus 로고
    • The problem of complete Y-linkage in men
    • Stern C. 1957. The problem of complete Y-linkage in men. Am. J. Hum. Genet. 9:147-66
    • (1957) Am. J. Hum. Genet , vol.9 , pp. 147-166
    • Stern, C.1
  • 110
    • 0029965983 scopus 로고    scopus 로고
    • Microdeletions in interval 6 of the y chromosome detected by STS-PCR in 6 of 33 patients with idiopathic oligo-or azoospermia
    • Stuppia L, Mastroprimiano G, Calabrese G, Peila R, Tenaglia R, Palka G. 1996. Microdeletions in interval 6 of the Y chromosome detected by STS-PCR in 6 of 33 patients with idiopathic oligo-or azoospermia. Cytogenet. Cell Genet. 72:155-58
    • (1996) Cytogenet. Cell Genet , vol.72 , pp. 155-158
    • Stuppia, L.1    Mastroprimiano, G.2    Calabrese, G.3    Peila, R.4    Tenaglia, R.5    Palka, G.6
  • 111
    • 0025906372 scopus 로고
    • An increased level of sperm abnormalities in mice with a partial deletion of the y chromosome
    • Styrna J, Imai HT, Moriwaki K. 1991. An increased level of sperm abnormalities in mice with a partial deletion of the Y chromosome. Genet. Res. 57:195-99
    • (1991) Genet. Res , vol.57 , pp. 195-199
    • Styrna, J.1    Imai, H.T.2    Moriwaki, K.3
  • 112
    • 0025825716 scopus 로고
    • Influence of partial deletion of the y chromosome on mouse sperm phenotype
    • Styrna J, Klag J, Moriwaki K. 1991. Influence of partial deletion of the Y chromosome on mouse sperm phenotype. J. Reprod. Fertil. 92:187-95
    • (1991) J. Reprod. Fertil , vol.92 , pp. 187-195
    • Styrna, J.1    Klag, J.2    Moriwaki, K.3
  • 113
    • 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. 2000. Deletion of azoospermia factor a (AZFa) region of human Y chromosome caused by recombination between HERV15 proviruses. Hum. Mol. Genet. 9:2291-96
    • (2000) Hum. Mol. Genet , vol.9 , pp. 2291-2296
    • Sun, C.1    Skaletsky, H.2    Rozen, S.3    Gromoll, J.4    Nieschlag, E.5
  • 114
    • 0024442992 scopus 로고
    • Analysis of the testes of H-Y negative XOSxrb mice suggests that the spermatogenesis gene (Spy) acts during the differentiation of the A spermatogonia
    • Sutcliffe MJ, Burgoyne P. 1989. Analysis of the testes of H-Y negative XOSxrb mice suggests that the spermatogenesis gene (Spy) acts during the differentiation of the A spermatogonia. Development 107:373-80
    • (1989) Development , vol.107 , pp. 373-380
    • Sutcliffe, M.J.1    Burgoyne, P.2
  • 115
    • 34249900454 scopus 로고    scopus 로고
    • The histone H3K4 demethylase SMCX links REST target genes to X-linked mental retardation
    • Tahiliani M, Mei P, Fang R, Leonor T, Rutenberg M, et al. 2007. The histone H3K4 demethylase SMCX links REST target genes to X-linked mental retardation. Nature 447:601-5
    • (2007) Nature , vol.447 , pp. 601-605
    • Tahiliani, M.1    Mei, P.2    Fang, R.3    Leonor, T.4    Rutenberg, M.5
  • 116
    • 0017119580 scopus 로고
    • Localization of factors controlling spermatogenesis in the nonfluorescent portion of the y chromosome long arm
    • Tiepolo L, Zuffardi O. 1976. Localization of factors controlling spermatogenesis in the nonfluorescent portion of the Y chromosome long arm. Hum. Genet. 34:119-24
    • (1976) Hum. Genet , vol.34 , pp. 119-124
    • Tiepolo, L.1    Zuffardi, O.2
  • 117
    • 1642399563 scopus 로고    scopus 로고
    • A new deletion of the mouse y chromosome long arm associated with the loss of Ssty expression, abnormal sperm development and sterility
    • Toure A, SzotM,Mahadevaiah SK, Rattigan A, Ojarikre OA, Burgoyne PS. 2004. A new deletion of the mouse Y chromosome long arm associated with the loss of Ssty expression, abnormal sperm development and sterility. Genetics 166:901-12
    • (2004) Genetics , vol.166 , pp. 901-912
    • Toure, A.1    Szot, M.2    Mahadevaiah, S.K.3    Rattigan, A.4    Ojarikre, O.A.5    Burgoyne, P.S.6
  • 118
    • 0021189475 scopus 로고
    • Body size and shape in 46,XY females with complete testicular feminization
    • Varrela J, Alvesalo L, Vinkka H. 1984. Body size and shape in 46,XY females with complete testicular feminization. Ann. Hum. Biol. 11:291-301
    • (1984) Ann. Hum. Biol , vol.11 , pp. 291-301
    • Varrela, J.1    Alvesalo, L.2    Vinkka, H.3
  • 119
    • 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. 1996. Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11. Hum. Mol. Genet. 5:933-43
    • (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
  • 120
    • 0026756965 scopus 로고
    • The human y chromosome: A 43-interval map based on naturally occurring deletions
    • Vollrath D, Foote S, Hilton A, Brown LG, Beer-Romero P, et al. 1992. The human Y chromosome: a 43-interval map based on naturally occurring deletions. Science 258:52-59
    • (1992) Science , vol.258 , pp. 52-59
    • Vollrath, D.1    Foote, S.2    Hilton, A.3    Brown, L.G.4    Beer-Romero, P.5
  • 122
    • 0029142871 scopus 로고
    • Prevalence and molecular analysis of two hot spots for ectopic recombination leading to XX maleness
    • Wang I, Weil D, Levilliers J, Affara NA, de la Chapelle A, Petit C. 1995. Prevalence and molecular analysis of two hot spots for ectopic recombination leading to XX maleness. Genomics 28:52-58
    • (1995) Genomics , vol.28 , pp. 52-58
    • Wang, I.1    Weil, D.2    Levilliers, J.3    Affara, N.A.4    De La Chapelle, A.5    Petit, C.6
  • 123
    • 84873729269 scopus 로고    scopus 로고
    • Genetic basis of Y-linked hearing impairment
    • Wang Q, Xue Y, Zhang Y, Long Q, Asan, et al. 2013. Genetic basis of Y-linked hearing impairment. Am. J. Hum. Genet. 92:301-6
    • (2013) Am. J. Hum. Genet , vol.92 , pp. 301-306
    • Wang, Q.1    Xue, Y.2    Zhang, Y.3    Long, Q.A.4
  • 124
    • 19444372677 scopus 로고    scopus 로고
    • Y-linked inheritance of non-syndromic hearing impairment in a large Chinese family
    • Wang QJ, Lu CY, Li N, Rao SQ, Shi YB, et al. 2004. Y-linked inheritance of non-syndromic hearing impairment in a large Chinese family. J. Med. Genet. 41:e80
    • (2004) J. Med. Genet , vol.41 , pp. e80
    • Wang, Q.J.1    Lu, C.Y.2    Li, N.3    Rao, S.Q.4    Shi, Y.B.5
  • 125
    • 33645093158 scopus 로고    scopus 로고
    • The effects of deletions of the mouse y chromosome long arm on sperm function-intracytoplasmic sperm injection (ICSI)-based analysis
    • Ward MA, Burgoyne PS. 2006. The effects of deletions of the mouse Y chromosome long arm on sperm function-intracytoplasmic sperm injection (ICSI)-based analysis. Biol. Reprod. 74:652-58
    • (2006) Biol. Reprod , vol.74 , pp. 652-658
    • Ward, M.A.1    Burgoyne, P.S.2
  • 126
    • 0027161001 scopus 로고
    • Functional equivalence of human X-and Yencoded isoforms of ribosomal protein S4 consistent with a role in Turner syndrome
    • Watanabe M, Zinn AR, Page DC, Nishimoto T. 1993. Functional equivalence of human X-and Yencoded isoforms of ribosomal protein S4 consistent with a role in Turner syndrome. Nat. Genet. 4:268-71
    • (1993) Nat. Genet , vol.4 , pp. 268-271
    • Watanabe, M.1    Zinn, A.R.2    Page, D.C.3    Nishimoto, T.4
  • 127
    • 0028154665 scopus 로고
    • Highly homologous loci on the X and y chromosomes are hot-spots for ectopic recombinations leading to XX maleness
    • Weil D, Wang I, Dietrich A, Poustka A,Weissenbach J, Petit C. 1994. Highly homologous loci on the X and Y chromosomes are hot-spots for ectopic recombinations leading to XX maleness. Nat. Genet. 7:414-19
    • (1994) Nat. Genet , vol.7 , pp. 414-419
    • Weil, D.1    Wang, I.2    Dietrich, A.3    Poustka, A.4    Weissenbach, J.5    Petit, C.6
  • 128
    • 84864663969 scopus 로고    scopus 로고
    • X-linked H3K27me3 demethylase Utx is required for embryonic development in a sex-specific manner
    • Welstead GG, CreyghtonMP, Bilodeau S, Cheng AW, Markoulaki S, et al. 2012. X-linked H3K27me3 demethylase Utx is required for embryonic development in a sex-specific manner. PNAS 109:13004-9
    • (2012) PNAS , vol.109 , pp. 13004-13009
    • Welstead, G.G.1    Creyghton, M.P.2    Bilodeau, S.3    Cheng, A.W.4    Markoulaki, S.5
  • 130
    • 84892721653 scopus 로고    scopus 로고
    • Two y genes can replace the entire y chromosome for assisted reproduction in the mouse
    • Yamauchi Y, Riel JM, Stoytcheva Z, Ward MA. 2014. Two Y genes can replace the entire Y chromosome for assisted reproduction in the mouse. Science 343:69-72
    • (2014) Science , vol.343 , pp. 69-72
    • Yamauchi, Y.1    Riel, J.M.2    Stoytcheva, Z.3    Ward, M.A.4
  • 131
    • 0032533919 scopus 로고    scopus 로고
    • A long-range restrictionmap of deletion interval 6 of the human y chromosome: A region frequently deleted in azoospermic males
    • Yen PH. 1998. A long-range restrictionmap of deletion interval 6 of the human Y chromosome: a region frequently deleted in azoospermic males. Genomics 54:5-12
    • (1998) Genomics , vol.54 , pp. 5-12
    • Yen, P.H.1
  • 132
    • 0026055785 scopus 로고
    • X/Y translocations resulting from recombination between homologous sequences on Xp and Yq
    • YenPH, Tsai SP,Wenger SL, SteeleMW,Mohandas TK, Shapiro LJ. 1991. X/Y translocations resulting from recombination between homologous sequences on Xp and Yq. PNAS 88:8944-48
    • (1991) PNAS , vol.88 , pp. 8944-8948
    • Yen, P.H.1    Tsai, S.P.2    Wenger, S.L.3    Steele, M.W.4    Mohandas, T.K.5    Shapiro, L.J.6
  • 133
    • 0037068447 scopus 로고    scopus 로고
    • Comprehensive proteomic analysis of the human spliceosome
    • Zhou Z, Licklider LJ, Gygi SP, Reed R. 2002. Comprehensive proteomic analysis of the human spliceosome. Nature 419:182-85
    • (2002) Nature , vol.419 , pp. 182-185
    • Zhou, Z.1    Licklider, L.J.2    Gygi, S.P.3    Reed, R.4
  • 134
    • 0027475040 scopus 로고
    • Turner syndrome: The case of the missing sex chromosome
    • Zinn AR, PageDC, Fisher EM. 1993. Turner syndrome: the case of the missing sex chromosome. Trends Genet. 9:90-93
    • (1993) Trends Genet , vol.9 , pp. 90-93
    • Zinn, A.R.1    Page, D.C.2    Fisher, E.M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.