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Volumn 7, Issue 7, 2012, Pages

Organizational and functional status of the Y-linked genes and loci in the infertile patients having normal spermiogram

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; AZOOSPERMIA; BPY2 GENE; CLINICAL ARTICLE; CONTROLLED STUDY; COPY NUMBER VARIATION; DAZ GENE; GENE; GENE DELETION; GENE FUNCTION; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; HUMAN; MALE; MALE INFERTILITY; MOLECULAR CLONING; OLIGOSPERMIA; REAL TIME POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; SEQUENCE TAGGED SITE; SPERMIOGRAM; SRY GENE; Y CHROMOSOME;

EID: 84864205947     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0041488     Document Type: Article
Times cited : (11)

References (66)
  • 2
    • 0025766021 scopus 로고
    • Incidence and main causes of infertility in a resident population (1,850,000) of three French regions (1988-1989)
    • Thonneau P, Marchand S, Tallec A, Ferial ML, Ducot B, et al. (1991) Incidence and main causes of infertility in a resident population (1,850,000) of three French regions (1988-1989). Hum Reprod 6: 811-816.
    • (1991) Hum Reprod , vol.6 , pp. 811-816
    • Thonneau, P.1    Marchand, S.2    Tallec, A.3    Ferial, M.L.4    Ducot, B.5
  • 3
    • 0017119580 scopus 로고
    • Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm
    • Tiepolo L, Zuffardi O, (1976) Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm. Hum Genet 34: 119-124.
    • (1976) Hum Genet , vol.34 , pp. 119-124
    • Tiepolo, L.1    Zuffardi, O.2
  • 4
    • 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
  • 5
    • 0034508903 scopus 로고    scopus 로고
    • Genetic basis of male fertility
    • Hargreave TB, (2000) Genetic basis of male fertility. British Medical Bulletin 56: 650-671.
    • (2000) British Medical Bulletin , vol.56 , pp. 650-671
    • Hargreave, T.B.1
  • 6
    • 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: 279-286.
    • (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
  • 7
    • 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: 825-837.
    • (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
  • 8
    • 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, et al. (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
  • 9
    • 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: 2291-2296.
    • (2000) Hum Mol Genet , vol.9 , pp. 2291-2296
    • Sun, C.1    Skaletsky, H.2    Rozen, S.3    Gromoll, J.4    Nieschlag, E.5
  • 10
    • 0242298320 scopus 로고    scopus 로고
    • Polymorphism for a 1.6-Mb deletion of the human Y chromosome persists through balance between recurrent mutation and haploid selection
    • Repping S, Skaletsky H, Brown L, van Daalen SK, Korver CM, et al. (2003) Polymorphism for a 1.6-Mb deletion of the human Y chromosome persists through balance between recurrent mutation and haploid selection. Nat Genet 35: 247-251.
    • (2003) Nat Genet , vol.35 , pp. 247-251
    • Repping, S.1    Skaletsky, H.2    Brown, L.3    van Daalen, S.K.4    Korver, C.M.5
  • 12
    • 0016150579 scopus 로고
    • Semen analysis: Evidence for changing parameters of male fertility potential
    • Nelson CM, Bunge RG, (1974) Semen analysis: evidence for changing parameters of male fertility potential. Fertil Steril 25: 503-507.
    • (1974) Fertil Steril , vol.25 , pp. 503-507
    • Nelson, C.M.1    Bunge, R.G.2
  • 13
    • 0026657024 scopus 로고
    • Evidence for decreasing quality of semen during past 50 years
    • Carlsen E, Giwercman A, Keiding N, Skakkebaek NE, (1992) Evidence for decreasing quality of semen during past 50 years. BMJ 305: 609-613.
    • (1992) BMJ , vol.305 , pp. 609-613
    • Carlsen, E.1    Giwercman, A.2    Keiding, N.3    Skakkebaek, N.E.4
  • 15
    • 0030057755 scopus 로고    scopus 로고
    • Evidence of deteriorating semen quality in the United Kingdom: Birth cohort study in 577 men in Scotland over 11 years
    • Irvine S, Cawood E, Richardson D, MacDonald E, Aitken J, (1996) Evidence of deteriorating semen quality in the United Kingdom: birth cohort study in 577 men in Scotland over 11 years. BMJ 312: 467-71.
    • (1996) BMJ , vol.312 , pp. 467-471
    • Irvine, S.1    Cawood, E.2    Richardson, D.3    Macdonald, E.4    Aitken, J.5
  • 16
    • 0033724655 scopus 로고    scopus 로고
    • The question of declining sperm density revisited: An analysis of 101 studies published 1934-1996
    • Swan SH, Elkin EP, Fenster L, (2000) The question of declining sperm density revisited: an analysis of 101 studies published 1934-1996. Environ Health Perspect 108: 961-966.
    • (2000) Environ Health Perspect , vol.108 , pp. 961-966
    • Swan, S.H.1    Elkin, E.P.2    Fenster, L.3
  • 18
    • 0027380295 scopus 로고
    • Stress and other environmental factors affecting fertility in men and women: Overview
    • Negro-Vilar A, (1993) Stress and other environmental factors affecting fertility in men and women: overview. Environ Health Perspect 101: 59-64.
    • (1993) Environ Health Perspect , vol.101 , pp. 59-64
    • Negro-Vilar, A.1
  • 19
    • 85046912622 scopus 로고    scopus 로고
    • Environment, lifestyle and infertility-an inter-generational issue
    • Sharpe RM, Franks S, (2002) Environment, lifestyle and infertility-an inter-generational issue. Nat Cell Biol 4: 33-40.
    • (2002) Nat Cell Biol , vol.4 , pp. 33-40
    • Sharpe, R.M.1    Franks, S.2
  • 20
    • 13444288261 scopus 로고    scopus 로고
    • Environmental and occupational factors affecting fertility and IVF success
    • Younglai EV, Holloway AC, Foster WG, (2005) Environmental and occupational factors affecting fertility and IVF success. Hum Reprod Update 11: 43-57.
    • (2005) Hum Reprod Update , vol.11 , pp. 43-57
    • Younglai, E.V.1    Holloway, A.C.2    Foster, W.G.3
  • 22
    • 0035012270 scopus 로고    scopus 로고
    • Y chromosome micro-deletions and alterations of spermatogenesis
    • Foresta C, Moro E, Ferlin A, (2001) Y chromosome micro-deletions 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
  • 23
    • 0007272350 scopus 로고    scopus 로고
    • Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq 11
    • Vogt PH, Edelmann A, Kirsch S, Henegariu O, Hirschmann P, et al. (1996) Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq 11. Hum Mol Genet 5: 233-943.
    • (1996) Hum Mol Genet , vol.5 , pp. 233-943
    • Vogt, P.H.1    Edelmann, A.2    Kirsch, S.3    Henegariu, O.4    Hirschmann, P.5
  • 26
    • 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. (2001) High deletion frequency of the complete AZFa sequence in men with Sertoli-cell-only syndrome. Mol Hum Reprod 7: 987-994.
    • (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    Et al.6
  • 27
  • 28
    • 18244410193 scopus 로고    scopus 로고
    • High frequency of DAZ1/DAZ2 gene deletions in patients with severe oligozoospermia
    • Fernandes S, Huellen K, Goncalves J, Dukal H, Zeisler J, et al. (2002) High frequency of DAZ1/DAZ2 gene deletions in patients with severe oligozoospermia. Mol Hum Reprod 8: 286-298.
    • (2002) Mol Hum Reprod , vol.8 , pp. 286-298
    • Fernandes, S.1    Huellen, K.2    Goncalves, J.3    Dukal, H.4    Zeisler, J.5
  • 29
    • 37549035392 scopus 로고    scopus 로고
    • Characterizing partial AZFc deletions of the Y chromosome with amplicon-specific sequence markers
    • Navarro-Costa P, Pereira L, Alves C, Gusmão L, Proenca C, et al. (2007) Characterizing partial AZFc deletions of the Y chromosome with amplicon-specific sequence markers. BMC Genomics 8: 342.
    • (2007) BMC Genomics , vol.8 , pp. 342
    • Navarro-Costa, P.1    Pereira, L.2    Alves, C.3    Gusmão, L.4    Proenca, C.5    Et al.6
  • 30
    • 33750059169 scopus 로고    scopus 로고
    • Genomic instability of the DYZ1 repeat in patients with Y chromosome anomalies and males exposed to natural background radiation
    • Pathak D, Premi S, Srivastava J, Chandy SP, Ali S, (2006) Genomic instability of the DYZ1 repeat in patients with Y chromosome anomalies and males exposed to natural background radiation. DNA Res 13: 103-109.
    • (2006) DNA Res , vol.13 , pp. 103-109
    • Pathak, D.1    Premi, S.2    Srivastava, J.3    Chandy, S.P.4    Ali, S.5
  • 31
    • 0242661632 scopus 로고    scopus 로고
    • Genomics of the human Y-chromosome association with male infertility
    • Ali S, Hasnain SE, (2003) Genomics of the human Y-chromosome association with male infertility. Gene 321: 25-37.
    • (2003) Gene , vol.321 , pp. 25-37
    • Ali, S.1    Hasnain, S.E.2
  • 32
    • 77955214078 scopus 로고    scopus 로고
    • Genetic integrity of the human Y chromosome exposed to groundwater arsenic
    • Ali S, Ali S, (2010) Genetic integrity of the human Y chromosome exposed to groundwater arsenic. BMC Med Genomics 3: 35.
    • (2010) BMC Med Genomics , vol.3 , pp. 35
    • Ali, S.1    Ali, S.2
  • 33
    • 4444267355 scopus 로고    scopus 로고
    • Genomic heterogeneity and instability of the AZF locus on the human Y chromosome
    • Vogt PH, (2004) Genomic heterogeneity and instability of the AZF locus on the human Y chromosome. Mol Cell Endocrinol 224: 1-9.
    • (2004) Mol Cell Endocrinol , vol.224 , pp. 1-9
    • Vogt, P.H.1
  • 34
    • 26244466185 scopus 로고    scopus 로고
    • Chromosome abnormalities in sperm of individuals with constitutional sex chromosomal abnormalities
    • Ferlin A, Garolla A, Foresta C, (2005) Chromosome abnormalities in sperm of individuals with constitutional sex chromosomal abnormalities. Cytogenet Genome Res 111: 310-316.
    • (2005) Cytogenet Genome Res , vol.111 , pp. 310-316
    • Ferlin, A.1    Garolla, A.2    Foresta, C.3
  • 35
    • 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
  • 36
    • 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. (2000) Four DAZ genes in two clusters found in the AZFc region of the human Y chromosome. Genomics 67: 256-267.
    • (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
  • 37
    • 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. (1998) 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) 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
  • 38
    • 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, (2000) 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) Hum Mol Genet , vol.9 , pp. 1161-1169
    • Foresta, C.1    Ferlin, A.2    Moro, E.3
  • 39
    • 0038642820 scopus 로고    scopus 로고
    • Ubiquitin-specific protease activity of USP9Y, a male infertility gene on the Y chromosome
    • Lee KH, Song GJ, Kang IS, Kim SW, Paick JS, et al. (2003) Ubiquitin-specific protease activity of USP9Y, a male infertility gene on the Y chromosome. Reprod Fertil Dev 15: 129-133.
    • (2003) Reprod Fertil Dev , vol.15 , pp. 129-133
    • Lee, K.H.1    Song, G.J.2    Kang, I.S.3    Kim, S.W.4    Paick, J.S.5
  • 40
    • 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. (1999) An azoospermic man with a de novo point mutation in the Y-chromosomal gene USP9Y. Nat Genet 23: 429-32.
    • (1999) Nat Genet , vol.23 , pp. 429-432
    • Sun, C.1    Skaletsky, H.2    Birren, B.3    Devon, K.4    Tang, Z.5
  • 41
    • 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. (2006) 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) Hum Mol Genet , vol.15 , pp. 2673-2681
    • Krausz, C.1    Degl'innocenti, S.2    Nuti, F.3    Morelli, A.4    Felici, F.5
  • 43
    • 12444336969 scopus 로고    scopus 로고
    • Partial deletions in the AZFc region of the Y chromosome occur in men with impaired as well as normal spermatogenesis
    • Hucklenbroich K, Gromoll J, Heinrich M, Hohoff C, Nieschlag E, et al. (2005) Partial deletions in the AZFc region of the Y chromosome occur in men with impaired as well as normal spermatogenesis. Hum Reprod 20: 191-197.
    • (2005) Hum Reprod , vol.20 , pp. 191-197
    • Hucklenbroich, K.1    Gromoll, J.2    Heinrich, M.3    Hohoff, C.4    Nieschlag, E.5
  • 44
    • 24344473841 scopus 로고    scopus 로고
    • The Y chromosome gr/gr subdeletion is associated with male infertility
    • Lynch M, Cram DS, Reilly A, O'Bryan MK, Baker HW, et al. (2005) The Y chromosome gr/gr subdeletion is associated with male infertility. Mol Hum Reprod 11: 507-512.
    • (2005) Mol Hum Reprod , vol.11 , pp. 507-512
    • Lynch, M.1    Cram, D.S.2    Reilly, A.3    O'Bryan, M.K.4    Baker, H.W.5
  • 45
    • 34347224382 scopus 로고    scopus 로고
    • A frequent Y chromosome b2/b3 subdeletion shows strong association with male infertility in Han-Chinese population
    • Wu B, Lu NX, Xia YK, Gu AH, Lu CC, et al. (2007) A frequent Y chromosome b2/b3 subdeletion shows strong association with male infertility in Han-Chinese population. Hum Reprod 22: 1107-1113.
    • (2007) Hum Reprod , vol.22 , pp. 1107-1113
    • Wu, B.1    Lu, N.X.2    Xia, Y.K.3    Gu, A.H.4    Lu, C.C.5
  • 46
    • 8744291701 scopus 로고    scopus 로고
    • Sequence family variant loss from the AZFc interval of the human Y chromosome, but not gene copy loss, is strongly associated with male infertility
    • Machev N, Saut N, Longepied G, Terriou P, Navarro A, et al. (2004) Sequence family variant loss from the AZFc interval of the human Y chromosome, but not gene copy loss, is strongly associated with male infertility. J Med Genet 41: 814-825.
    • (2004) J Med Genet , vol.41 , pp. 814-825
    • Machev, N.1    Saut, N.2    Longepied, G.3    Terriou, P.4    Navarro, A.5
  • 48
    • 34548070424 scopus 로고    scopus 로고
    • Partial AZFc deletions in infertile men with cryptorchidism
    • Giachini C, Nuti F, Marinari E, Forti G, Krausz C, (2007) Partial AZFc deletions in infertile men with cryptorchidism. Hum Reprod 22: 2398-2403.
    • (2007) Hum Reprod , vol.22 , pp. 2398-2403
    • Giachini, C.1    Nuti, F.2    Marinari, E.3    Forti, G.4    Krausz, C.5
  • 49
    • 30444460100 scopus 로고    scopus 로고
    • Y-chromosomal micro-deletions and partial deletions of the Azoospermia Factor c (AZFc) region in normozoospermic, severe oligozoospermic and azoospermic men in Sri Lanka
    • Fernando L, Gromoll J, Weerasooriya TR, Nieschlag E, Simoni M, (2006) Y-chromosomal micro-deletions and partial deletions of the Azoospermia Factor c (AZFc) region in normozoospermic, severe oligozoospermic and azoospermic men in Sri Lanka. Asian J Androl 8: 39-44.
    • (2006) Asian J Androl , vol.8 , pp. 39-44
    • Fernando, L.1    Gromoll, J.2    Weerasooriya, T.R.3    Nieschlag, E.4    Simoni, M.5
  • 50
    • 44449113616 scopus 로고    scopus 로고
    • Do we need to search for gr/gr deletions in infertile men in a clinical setting?
    • Stouffs K, Tournaye H, Van der Elst J, Haentjens P, Liebaers I, et al. (2008) Do we need to search for gr/gr deletions in infertile men in a clinical setting?. Hum Reprod 23: 1193-1199.
    • (2008) Hum Reprod , vol.23 , pp. 1193-1199
    • Stouffs, K.1    Tournaye, H.2    van der Elst, J.3    Haentjens, P.4    Liebaers, I.5
  • 52
    • 0034527487 scopus 로고    scopus 로고
    • Male infertility caused by a de novo partial deletion of the DAZ cluster on the Y chromosome
    • Moro E, Ferlin A, Yen PH, Franchi PG, Palka G, et al. (2000) Male infertility caused by a de novo partial deletion of the DAZ cluster on the Y chromosome. J Clin Endocrinol Metab 85: 4069-4073.
    • (2000) J Clin Endocrinol Metab , vol.85 , pp. 4069-4073
    • Moro, E.1    Ferlin, A.2    Yen, P.H.3    Franchi, P.G.4    Palka, G.5
  • 53
    • 1842526954 scopus 로고    scopus 로고
    • Analysis of the DAZ gene family in cryptorchidism and idiopathic male infertility
    • Ferlin A, Bettella A, Tessari A, Salata E, Dallapiccola B, et al. (2004) Analysis of the DAZ gene family in cryptorchidism and idiopathic male infertility. Fertil Steril 81: 1013-1018.
    • (2004) Fertil Steril , vol.81 , pp. 1013-1018
    • Ferlin, A.1    Bettella, A.2    Tessari, A.3    Salata, E.4    Dallapiccola, B.5
  • 54
    • 0242438555 scopus 로고    scopus 로고
    • Members of the CDY family have different expression patterns: CDY1 transcripts have the best correlation with complete spermatogenesis
    • Kleiman SE, Yogev L, Hauser R, Botchan A, Bar-Shira Maymon B, et al. (2003) Members of the CDY family have different expression patterns: CDY1 transcripts have the best correlation with complete spermatogenesis. Hum Genet 113: 486-492.
    • (2003) Hum Genet , vol.113 , pp. 486-492
    • Kleiman, S.E.1    Yogev, L.2    Hauser, R.3    Botchan, A.4    Bar-Shira Maymon, B.5
  • 55
    • 0034767943 scopus 로고    scopus 로고
    • Molecular analysis of SRY gene in patients with mixed gonadal dysgenesis
    • Alvarez-Nava F, Soto M, Borjas L, Ortiz R, Rojas A, et al. (2001) Molecular analysis of SRY gene in patients with mixed gonadal dysgenesis. Ann Genet 44: 155-159.
    • (2001) Ann Genet , vol.44 , pp. 155-159
    • Alvarez-Nava, F.1    Soto, M.2    Borjas, L.3    Ortiz, R.4    Rojas, A.5
  • 56
    • 0035824513 scopus 로고    scopus 로고
    • Human sex reversal due to impaired nuclear localization of SRY. A clinical correlation
    • Li B, Zhang W, Chan G, Jancso-Radek A, Liu S, et al. (2001) Human sex reversal due to impaired nuclear localization of SRY. A clinical correlation. J Biol Chem 276: 46480-46484.
    • (2001) J Biol Chem , vol.276 , pp. 46480-46484
    • Li, B.1    Zhang, W.2    Chan, G.3    Jancso-Radek, A.4    Liu, S.5    Et al.6
  • 58
    • 4344621609 scopus 로고    scopus 로고
    • Two new novel point mutations localized upstream and downstream of the HMG box region of the SRY gene in three Indian 46,XY females with sex reversal and gonadal tumour formation
    • Shahid M, Dhillion VS, Jain N, Hedau S, Diwakar S, et al. (2004) Two new novel point mutations localized upstream and downstream of the HMG box region of the SRY gene in three Indian 46,XY females with sex reversal and gonadal tumour formation. Mol Hum Reprod 10: 521-526.
    • (2004) Mol Hum Reprod , vol.10 , pp. 521-526
    • Shahid, M.1    Dhillion, V.S.2    Jain, N.3    Hedau, S.4    Diwakar, S.5
  • 59
    • 33645101318 scopus 로고    scopus 로고
    • SRY and human sex determination: The basic tail of the HMG box functions as a kinetic clamp to augment DNA bending
    • Phillips NB, Jancso-Radek A, Ittah V, Singh R, Chan G, et al. (2006) SRY and human sex determination: the basic tail of the HMG box functions as a kinetic clamp to augment DNA bending. J Mol Biol 358: 172-192.
    • (2006) J Mol Biol , vol.358 , pp. 172-192
    • Phillips, N.B.1    Jancso-Radek, A.2    Ittah, V.3    Singh, R.4    Chan, G.5
  • 60
    • 61349194425 scopus 로고    scopus 로고
    • Identification of a new mutation in the SRY gene in a 46,XY woman with Swyer syndrome
    • Marchina E, Gambera A, Spinelli E, Clerici P, Scagliola P, et al. (2009) Identification of a new mutation in the SRY gene in a 46,XY woman with Swyer syndrome. Fertil Steril 91: 932 e937-932 e911.
    • (2009) Fertil Steril , vol.91
    • Marchina, E.1    Gambera, A.2    Spinelli, E.3    Clerici, P.4    Scagliola, P.5
  • 61
    • 77956584462 scopus 로고    scopus 로고
    • A SRY-HMG box frame shift mutation inherited from a mosaic father with a mild form of testicular dysgenesis syndrome in Turner syndrome patient
    • Shahid M, Dhillon VS, Khalil HS, Haque S, Batra S, et al. (2010) A SRY-HMG box frame shift mutation inherited from a mosaic father with a mild form of testicular dysgenesis syndrome in Turner syndrome patient. BMC Med Genet 11: 131.
    • (2010) BMC Med Genet , vol.11 , pp. 131
    • Shahid, M.1    Dhillon, V.S.2    Khalil, H.S.3    Haque, S.4    Batra, S.5
  • 62
    • 79957478254 scopus 로고    scopus 로고
    • Identification of novel SRY mutations and SF1 (NR5A1) changes in patients with pure gonadal dysgenesis and 46,XY karyotype
    • Paliwal P, Sharma A, Birla S, Kriplani A, Khadgawat R, (2011) Identification of novel SRY mutations and SF1 (NR5A1) changes in patients with pure gonadal dysgenesis and 46,XY karyotype. Mol Hum Reprod 17: 372-378.
    • (2011) Mol Hum Reprod , vol.17 , pp. 372-378
    • Paliwal, P.1    Sharma, A.2    Birla, S.3    Kriplani, A.4    Khadgawat, R.5
  • 63
    • 0029278621 scopus 로고
    • Two different subunits of importin cooperate to recognize nuclear localization signals and bind them to the nuclear envelope
    • Gorlich D, Kostkat S, Kraftt R, Dingwall C, Laskey RA, et al. (1995) Two different subunits of importin cooperate to recognize nuclear localization signals and bind them to the nuclear envelope. Curr Biol 5: 383-392.
    • (1995) Curr Biol , vol.5 , pp. 383-392
    • Gorlich, D.1    Kostkat, S.2    Kraftt, R.3    Dingwall, C.4    Laskey, R.A.5
  • 64
    • 0030612604 scopus 로고    scopus 로고
    • Karyopherin b2 mediates nuclear import of a mRNA binding protein
    • Bonifaci N, Moroianu J, Radu A Blobel (1997) Karyopherin b2 mediates nuclear import of a mRNA binding protein. Proc Natl Acad Sci USA 94: 5055-5060.
    • (1997) Proc Natl Acad Sci USA , vol.94 , pp. 5055-5060
    • Bonifaci, N.1    Moroianu, J.2    Blobel, R.A.3
  • 65
    • 0034925589 scopus 로고    scopus 로고
    • Eleven years of sexual discovery
    • Sinclair A, (2001) Eleven years of sexual discovery. Genome Biology 2: 4017.1-4017.3.
    • (2001) Genome Biology , vol.2 , pp. 1-3
    • Sinclair, A.1
  • 66
    • 0034908554 scopus 로고    scopus 로고
    • Nomenclature for the description of human sequence variations
    • de Dunnen JT, Antonarakis E, (2001) Nomenclature for the description of human sequence variations. Hum Genet 109: 121-124.
    • (2001) Hum Genet , vol.109 , pp. 121-124
    • de Dunnen, J.T.1    Antonarakis, E.2


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