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Volumn 35, Issue 3, 2003, Pages 247-251

Polymorphism for a 1.6-Mb deletion of the human Y chromosome persists through balance between recurrent mutation and haploid selection

Author keywords

[No Author keywords available]

Indexed keywords

AMPLICON; ARTICLE; AZFC REGION; CHROMOSOME DELETION Y; CHROMOSOME MUTATION; CONTROLLED STUDY; DISEASE TRANSMISSION; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENETIC POLYMORPHISM; GENETIC RECOMBINATION; GENETIC SELECTION; GR GR DELETION; HAPLOIDY; HUMAN; HUMAN CELL; NUCLEOTIDE SEQUENCE; PENETRANCE; PRIORITY JOURNAL; RISK FACTOR; SPERMATOGENESIS; Y CHROMOSOME;

EID: 0242298320     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng1250     Document Type: Article
Times cited : (387)

References (28)
  • 1
    • 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. 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
  • 2
    • 0035189452 scopus 로고    scopus 로고
    • The fragility of fertility
    • Yen, P. The fragility of fertility. Nat. Genet. 29, 243-244 (2001).
    • (2001) Nat. Genet. , vol.29 , pp. 243-244
    • Yen, P.1
  • 3
    • 0037967242 scopus 로고    scopus 로고
    • The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes
    • Skaletsky, H. 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
  • 4
    • 0034703178 scopus 로고    scopus 로고
    • Deletion of azoospermia factor a (AZFa) region of human Y chromosome caused by recombination between HERV15 proviruses
    • Sun, C. 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
  • 5
    • 0033785321 scopus 로고    scopus 로고
    • Divergent outcomes of intrachromosomal recombination on the human Y chromosome: Male infertility and recurrent polymorphism
    • Blanco, P. et al. 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
  • 6
    • 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, P.H. 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
  • 7
    • 0036782130 scopus 로고    scopus 로고
    • Recombination between palindromes P5 and P1 on the human Y chromosome causes massive deletions and spermatogenic failureu
    • Repping, S. 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
  • 8
    • 10344260798 scopus 로고    scopus 로고
    • Recurrent duplication and deletion polymorphisms on the long arm of the Y chromosome in normal males
    • Jobling, M.A. 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
  • 9
    • 0034757164 scopus 로고    scopus 로고
    • Reduction in the DAZ gene copy number in two infertile men with impaired spermatogenesis
    • Bienvenu, T., Patrat, C., McElreavey, K., de Almeida, M. & Jouannet, P. Reduction in the DAZ gene copy number in two infertile men with impaired spermatogenesis. Ann. Genet. 44, 125-128 (2001).
    • (2001) Ann. Genet. , vol.44 , pp. 125-128
    • Bienvenu, T.1    Patrat, C.2    McElreavey, K.3    De Almeida, M.4    Jouannet, P.5
  • 10
    • 0036153547 scopus 로고    scopus 로고
    • Reduced copy number of DAZ genes in subfertile and infertile men
    • de Vries, J.W.A. et al. Reduced copy number of DAZ genes in subfertile and infertile men. Fertil. Steril. 77, 68-75 (2002).
    • (2002) Fertil. Steril. , vol.77 , pp. 68-75
    • De Vries, J.W.A.1
  • 11
    • 18244410193 scopus 로고    scopus 로고
    • High frequency of DAZ1/DAZ2 gene deletions in patients with severe oligozoospermia
    • Fernandes, S. et al. High frequency of DAZ1/DAZ2 gene deletions in patients with severe oligozoospermia. Mol. Hum. Reprod. 8, 286-298 (2002).
    • (2002) Mol. Hum. Reprod. , vol.8 , pp. 286-298
    • Fernandes, S.1
  • 12
    • 0036272336 scopus 로고    scopus 로고
    • Microdeletions of a Y-specific marker, Yfm1, and implications for a role in spermatogenesis
    • Ewis, A.A., Lee, J., Shinka, T. & Nakahori, Y. Microdeletions of a Y-specific marker, Yfm1, and implications for a role in spermatogenesis. J. Hum. Genet. 47, 257-261 (2002).
    • (2002) J. Hum. Genet. , vol.47 , pp. 257-261
    • Ewis, A.A.1    Lee, J.2    Shinka, T.3    Nakahori, Y.4
  • 13
    • 0033762701 scopus 로고    scopus 로고
    • Y chromosome sequence variation and the history of human populations
    • Underhill, P.A. et al. Y chromosome sequence variation and the history of human populations. Nat. Genet. 26, 358-361 (2000).
    • (2000) Nat. Genet. , vol.26 , pp. 358-361
    • Underhill, P.A.1
  • 14
    • 0034744362 scopus 로고    scopus 로고
    • The phylogeography of Y chromosome binary haplotypes and the origins of modern human populations
    • Underhill, P.A. et al. The phylogeography of Y chromosome binary haplotypes and the origins of modern human populations. Ann. Hum. Genet. 65, 43-62 (2001).
    • (2001) Ann. Hum. Genet. , vol.65 , pp. 43-62
    • Underhill, P.A.1
  • 15
    • 0036178949 scopus 로고    scopus 로고
    • A nomenclature system for the tree of human Y-chromosomal binary haplogroups
    • The Y Chromosome Consortium. A nomenclature system for the tree of human Y-chromosomal binary haplogroups. Genome Res. 12, 339-348 (2002).
    • (2002) Genome Res. , vol.12 , pp. 339-348
  • 16
    • 0032881175 scopus 로고    scopus 로고
    • Spermatogenic ability is different among males in different Y chromosome lineage
    • Kuroki, Y. et al. Spermatogenic ability is different among males in different Y chromosome lineage. J. Hum. Genet. 44, 289-292 (1999).
    • (1999) J. Hum. Genet. , vol.44 , pp. 289-292
    • Kuroki, Y.1
  • 17
    • 0034946806 scopus 로고    scopus 로고
    • Hierarchical patterns of global human Y-chromosome diversity
    • Hammer, M. et al. Hierarchical patterns of global human Y-chromosome diversity. Mol. Biol. Evol. 18, 1189-1203 (2001).
    • (2001) Mol. Biol. Evol. , vol.18 , pp. 1189-1203
    • Hammer, M.1
  • 18
    • 0035844029 scopus 로고    scopus 로고
    • African origin of modern humans in East Asia: A tale of 12,000 Y chromosomes
    • Ke, Y. et al. African origin of modern humans in East Asia: a tale of 12,000 Y chromosomes. Science 292, 1151-1153 (2001).
    • (2001) Science , vol.292 , pp. 1151-1153
    • Ke, Y.1
  • 19
    • 0042766533 scopus 로고    scopus 로고
    • The human Y chromosome: An evolutionary marker comes of age
    • Jobling, M. & Tyler-Smith, C. The human Y chromosome: an evolutionary marker comes of age. Nat. Rev. Genet. 4, 598-612 (2003).
    • (2003) Nat. Rev. Genet. , vol.4 , pp. 598-612
    • Jobling, M.1    Tyler-Smith, C.2
  • 20
    • 0029088061 scopus 로고
    • Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene
    • Reijo, R. 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
  • 21
    • 0007272350 scopus 로고    scopus 로고
    • Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11
    • Vogt, P.H. 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
  • 22
    • 0036852977 scopus 로고    scopus 로고
    • Clinical characterization of 42 oligospermic or azoospermic men with microdeletion of the AZFc region of the Y chromosome, and of 18 children conceived via ICSI
    • Oates, R.D., Silber, S., Brown, L.G. & Page, D.C. Clinical characterization of 42 oligospermic or azoospermic men with microdeletion of the AZFc region of the Y chromosome, and of 18 children conceived via ICSI. Hum. Reprod. 17, 2813-2824 (2002).
    • (2002) Hum. Reprod. , vol.17 , pp. 2813-2824
    • Oates, R.D.1    Silber, S.2    Brown, L.G.3    Page, D.C.4
  • 23
    • 0032429154 scopus 로고    scopus 로고
    • A DNA polymorphism discovery resource for research on human genetic variation
    • Collins, F.S., Brooks, L.D. & Chakravarti, A. A DNA polymorphism discovery resource for research on human genetic variation. Genome Res. 8, 1229-1231 (1998).
    • (1998) Genome Res. , vol.8 , pp. 1229-1231
    • Collins, F.S.1    Brooks, L.D.2    Chakravarti, A.3
  • 24
    • 77951509701 scopus 로고
    • The rate of spontaneous mutation of a human gene
    • Haldane, J.B.S. The rate of spontaneous mutation of a human gene. J. Genet. 31, 317-326 (1935).
    • (1935) J. Genet. , vol.31 , pp. 317-326
    • Haldane, J.B.S.1
  • 25
    • 0031785486 scopus 로고    scopus 로고
    • Occurrence of hemophilia in the United States
    • Soucie, J.M., Evatt, B., Jackson, D. & The Hemophilia Surveillance System Project Investigators. Occurrence of hemophilia in the United States. Am. J. Hematol. 59, 288-294 (1998).
    • (1998) Am. J. Hematol. , vol.59 , pp. 288-294
    • Soucie, J.M.1    Evatt, B.2    Jackson, D.3
  • 27
    • 0034253627 scopus 로고    scopus 로고
    • Four DAZ genes in two clusters found in the AZFc region of the human Y chromosome
    • Saxena, R. 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
  • 28
    • 0035865360 scopus 로고    scopus 로고
    • A physical map of the human Y chromosome
    • Tilford, C. et al. A physical map of the human Y chromosome. Nature 409, 943-945 (2001).
    • (2001) Nature , vol.409 , pp. 943-945
    • Tilford, C.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.