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Volumn 5, Issue 1, 2012, Pages

High rates of de novo 15q11q13 inversions in human spermatozoa

Author keywords

15q11q13 Inversions; Fluorescence in situ Hybridization; Low Copy Repeats; Non allelic Homologous Recombination; Spermatozoa

Indexed keywords

ADULT; ARTICLE; CHROMOSOMAL INSTABILITY; CHROMOSOME 15Q; CHROMOSOME DELETION; CHROMOSOME INVERSION; CLINICAL ARTICLE; CONFOCAL LASER MICROSCOPY; CONTROLLED STUDY; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC PREDISPOSITION; GENETIC SUSCEPTIBILITY; GENOTYPE; HAPLOTYPE; HOMOLOGOUS RECOMBINATION; HUMAN; MALE; PRADER WILLI SYNDROME; PRIORITY JOURNAL; SPERMATOZOON;

EID: 84856582662     PISSN: None     EISSN: 17558166     Source Type: Journal    
DOI: 10.1186/1755-8166-5-11     Document Type: Article
Times cited : (7)

References (34)
  • 1
    • 70350221909 scopus 로고    scopus 로고
    • Copy number variation in human health, disease, and evolution
    • 10.1146/annurev.genom.9.081307.164217 19715442
    • Copy number variation in human health, disease, and evolution. Zhang F, Gu W, Hurles ME, Lupski JR, Annu Rev Genomics Hum Genet 2009 10 451 481 10.1146/annurev.genom.9.081307.164217 19715442
    • (2009) Annu Rev Genomics Hum Genet , vol.10 , pp. 451-481
    • Zhang, F.1    Gu, W.2    Hurles, M.E.3    Lupski, J.R.4
  • 2
    • 62549134411 scopus 로고    scopus 로고
    • Mechanisms for human genomic rearrangements
    • 10.1186/1755-8417-1-4 19014668
    • Mechanisms for human genomic rearrangements. Gu W, Zhang F, Lupski JR, Pathogenetics 2008 1 4 10.1186/1755-8417-1-4 19014668
    • (2008) Pathogenetics , vol.1 , pp. 4
    • Gu, W.1    Zhang, F.2    Lupski, J.R.3
  • 3
    • 77949831756 scopus 로고    scopus 로고
    • Structural variation in the human genome and its role in disease
    • 10.1146/annurev-med-100708-204735 20059347
    • Structural variation in the human genome and its role in disease. Stankiewicz P, Lupski JR, Annu Rev Med 2010 61 437 455 10.1146/annurev-med- 100708-204735 20059347
    • (2010) Annu Rev Med , vol.61 , pp. 437-455
    • Stankiewicz, P.1    Lupski, J.R.2
  • 4
    • 0035487212 scopus 로고    scopus 로고
    • Segmental duplications: An 'expanding' role in genomic instability and disease
    • DOI 10.1038/35093500
    • Segmental duplications: an 'expanding' role in genomic instability and disease. Emanuel BS, Shaikh TH, Nat Rev Genet 2001 2 791 800 11584295 (Pubitemid 33685576)
    • (2001) Nature Reviews Genetics , vol.2 , Issue.10 , pp. 791-800
    • Emanuel, B.S.1    Shaikh, T.H.2
  • 5
    • 33745373606 scopus 로고    scopus 로고
    • Primate segmental duplications: Crucibles of evolution, diversity and disease
    • DOI 10.1038/nrg1895, PII N1895
    • Primate segmental duplications: crucibles of evolution, diversity and disease. Bailey JA, Eichler EE, Nat Rev Genet 2006 7 552 564 16770338 (Pubitemid 43943572)
    • (2006) Nature Reviews Genetics , vol.7 , Issue.7 , pp. 552-564
    • Bailey, J.A.1    Eichler, E.E.2
  • 6
    • 77954402321 scopus 로고    scopus 로고
    • Inversion variants in the human genome: Role in disease and genome architecture
    • 10.1186/gm132 20156332
    • Inversion variants in the human genome: role in disease and genome architecture. Feuk L, Genome Med 2010 2 11 10.1186/gm132 20156332
    • (2010) Genome Med , vol.2 , pp. 11
    • Feuk, L.1
  • 7
    • 1842526843 scopus 로고    scopus 로고
    • Implications of human genome architecture for rearrangement-based disorders: The genomic basis of disease
    • 14764619
    • Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease. Shaw CJ, Lupski JR, Hum Mol Genet 2004 13 Spec No 1 57 64 14764619
    • (2004) Hum Mol Genet , vol.13 , Issue.SPEC. NO. 1 , pp. 1857-64
    • Shaw, C.J.1    Lupski, J.R.2
  • 9
    • 39549087017 scopus 로고    scopus 로고
    • Detailed analysis of 15q11-q14 sequence corrects errors and gaps in the public access sequence to fully reveal large segmental duplications at breakpoints for Prader-Willi, Angelman, and inv dup(15) syndromes
    • Detailed analysis of 15q11-q14 sequence corrects errors and gaps in the public access sequence to fully reveal large segmental duplications at breakpoints for Prader-Willi, Angelman, and inv dup(15) syndromes. Makoff AJ, Flomen RH, Genome Biol 2008 8 114
    • (2008) Genome Biol , vol.8 , pp. 18114
    • Makoff, A.J.1    Flomen, R.H.2
  • 14
    • 0032169436 scopus 로고    scopus 로고
    • Interstitial duplications of chromosome region 15q11q13: Clinical and molecular characterization
    • 10.1002/(SICI)1096-8628(19980901)79:2<82: AID-AJMG2>3.0.CO;2-P 9741464
    • Interstitial duplications of chromosome region 15q11q13: clinical and molecular characterization. Repetto GM, White LM, Bader PJ, Johnson D, Knoll JH, Am J Med Genet 1998 79 82 89 10.1002/(SICI)1096-8628(19980901)79:2<82::AID- AJMG2>3.0.CO;2-P 9741464
    • (1998) Am J Med Genet , vol.79 , pp. 82-89
    • Repetto, G.M.1    White, L.M.2    Bader, P.J.3    Johnson, D.4    Knoll, J.H.5
  • 15
    • 33644861103 scopus 로고    scopus 로고
    • Clinical findings in 33 subjects with large supernumerary marker(15) chromosomes and 3 subjects with triplication of 15q11-q13
    • DOI 10.1002/ajmg.a.31091
    • Clinical findings in 33 subjects with large supernumerary marker(15) chromosomes and 3 subjects with triplication of 15q11-q13. Dennis NR, Veltman MW, Thompson R, Craig E, Bolton PF, Thomas NS, Am J Med Genet A 2006 140 434 441 16470730 (Pubitemid 43376315)
    • (2006) American Journal of Medical Genetics , vol.140 A , Issue.5 , pp. 434-441
    • Dennis, N.R.1    Veltman, M.W.M.2    Thompson, R.3    Craig, E.4    Bolton, P.F.5    Thomas, N.S.6
  • 18
    • 77954049435 scopus 로고    scopus 로고
    • Deletions and duplications of the 15q11-q13 region in spermatozoa from Prader-Willi syndrome fathers
    • 10.1093/molehr/gaq005 20083560
    • Deletions and duplications of the 15q11-q13 region in spermatozoa from Prader-Willi syndrome fathers. Molina O, Blanco J, Vidal F, Mol Hum Reprod 2010 16 320 328 10.1093/molehr/gaq005 20083560
    • (2010) Mol Hum Reprod , vol.16 , pp. 320-328
    • Molina, O.1    Blanco, J.2    Vidal, F.3
  • 20
    • 45549101859 scopus 로고    scopus 로고
    • Cytogenetic determinants of male fertility
    • DOI 10.1093/humupd/dmn017
    • Cytogenetic determinants of male fertility. Martin RH, Hum Reprod Update 2008 14 379 390 10.1093/humupd/dmn017 18535003 (Pubitemid 351858977)
    • (2008) Human Reproduction Update , vol.14 , Issue.4 , pp. 379-390
    • Martin, R.H.1
  • 21
    • 34547850413 scopus 로고    scopus 로고
    • Role of sperm fish studies in the genetic reproductive advice of structural reorganization carriers
    • DOI 10.1093/humrep/dem152
    • Role of sperm FISH studies in the genetic reproductive advice of structural reorganization carriers. Anton E, Vidal F, Blanco J, Hum Reprod 2007 22 2088 2092 10.1093/humrep/dem152 17573525 (Pubitemid 47243543)
    • (2007) Human Reproduction , vol.22 , Issue.8 , pp. 2088-2092
    • Anton, E.1    Vidal, F.2    Blanco, J.3
  • 22
    • 77949918555 scopus 로고    scopus 로고
    • Role of sperm fluorescent in situ hybridization studies in infertile patients: Indications, study approach, and clinical relevance
    • 19254793
    • Role of sperm fluorescent in situ hybridization studies in infertile patients: indications, study approach, and clinical relevance. Sarrate Z, Vidal F, Blanco J, Fertil Steril 2009 93 1892 1902 19254793
    • (2009) Fertil Steril , vol.93 , pp. 1892-1902
    • Sarrate, Z.1    Vidal, F.2    Blanco, J.3
  • 23
    • 0026737923 scopus 로고
    • Estimating genomic distance from DNA sequence location in cell nuclei by a random walk model
    • 10.1126/science.1388286 1388286
    • Estimating genomic distance from DNA sequence location in cell nuclei by a random walk model. van den Engh G, Sachs R, Trask BJ, Science 1992 257 1410 1412 10.1126/science.1388286 1388286
    • (1992) Science , vol.257 , pp. 1410-1412
    • Van Den Engh, G.1    Sachs, R.2    Trask, B.J.3
  • 24
    • 77954072167 scopus 로고    scopus 로고
    • Nucleotide, cytogenetic and expression impact of the human chromosome 8p23.1 inversion polymorphism
    • 10.1371/journal.pone.0008269 20011547
    • Nucleotide, cytogenetic and expression impact of the human chromosome 8p23.1 inversion polymorphism. Bosch N, Morell M, Ponsa I, Mercader JM, Armengol L, Estivill X, PLoS One 2009 4 8269 10.1371/journal.pone.0008269 20011547
    • (2009) PLoS One , vol.4 , pp. 58269
    • Bosch, N.1    Morell, M.2    Ponsa, I.3    Mercader, J.M.4    Armengol, L.5    Estivill, X.6
  • 26
    • 43049100493 scopus 로고    scopus 로고
    • Copy number variation at the 7q11.23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletion
    • DOI 10.1101/gr.073197.107
    • Copy number variation at the 7q11.23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletion. Cusco I, Corominas R, Bayes M, Flores R, Rivera-Brugues N, Campuzano V, Perez-Jurado LA, Genome Res 2008 18 683 694 10.1101/gr.073197.107 18292220 (Pubitemid 351645059)
    • (2008) Genome Research , vol.18 , Issue.5 , pp. 683-694
    • Cusco, I.1    Corominas, R.2    Bayes, M.3    Flores, R.4    Rivera-Brugues, N.5    Campuzano, V.6    Perez-Jurado, L.A.7
  • 27
    • 55549124885 scopus 로고    scopus 로고
    • Copy number variation at the breakpoint region of isochromosome 17q
    • 10.1101/gr.080697.108 18714090
    • Copy number variation at the breakpoint region of isochromosome 17q. Carvalho CM, Lupski JR, Genome Res 2008 18 1724 1732 10.1101/gr.080697.108 18714090
    • (2008) Genome Res , vol.18 , pp. 1724-1732
    • Carvalho, C.M.1    Lupski, J.R.2
  • 28
    • 80055118121 scopus 로고    scopus 로고
    • Fluorescence in situ hybridization (FISH) protocol in human sperm
    • Fluorescence in situ hybridization (FISH) protocol in human sperm. Sarrate Z, Anton E, J Vis Exp 2009
    • (2009) J Vis Exp
    • Sarrate, Z.1    Anton, E.2
  • 30
    • 11144278605 scopus 로고    scopus 로고
    • Identification of a 3.0-kb major recombination hotspot in patients with Sotos syndrome who carry a common 1.9-Mb microdeletion
    • DOI 10.1086/426950
    • Identification of a 3.0-kb major recombination hotspot in patients with Sotos syndrome who carry a common 1.9-Mb microdeletion. Visser R, Shimokawa O, Harada N, Kinoshita A, Ohta T, Niikawa N, Matsumoto N, Am J Hum Genet 2005 76 52 67 10.1086/426950 15580547 (Pubitemid 40023765)
    • (2005) American Journal of Human Genetics , vol.76 , Issue.1 , pp. 52-67
    • Visser, R.1    Shimokawa, O.2    Harada, N.3    Kinoshita, A.4    Ohta, T.5    Niikawa, N.6    Matsumoto, N.7
  • 32
    • 10744228785 scopus 로고    scopus 로고
    • Complex low-copy repeats associated with a common polymorphic inversion at human chromosome 8p23
    • DOI 10.1016/S0888-7543(03)00108-3
    • Complex low-copy repeats associated with a common polymorphic inversion at human chromosome 8p23. Sugawara H, Harada N, Ida T, Ishida T, Ledbetter DH, Yoshiura K, Ohta T, Kishino T, Niikawa N, Matsumoto N, Genomics 2003 82 238 244 10.1016/S0888-7543(03)00108-3 12837273 (Pubitemid 36808624)
    • (2003) Genomics , vol.82 , Issue.2 , pp. 238-244
    • Sugawara, H.1    Harada, N.2    Ida, T.3    Ishida, T.4    Ledbetter, D.H.5    Yoshiura, K.-I.6    Ohta, T.7    Kishino, T.8    Niikawa, N.9    Matsumoto, N.10
  • 34
    • 77955717301 scopus 로고    scopus 로고
    • Recurrent inversion events at 17q21.31 microdeletion locus are linked to the MAPT H2 haplotype
    • 10.1159/000315901 20606400
    • Recurrent inversion events at 17q21.31 microdeletion locus are linked to the MAPT H2 haplotype. Rao PN, Li W, Vissers LE, Veltman JA, Ophoff RA, Cytogenet Genome Res 2010 129 275 279 10.1159/000315901 20606400
    • (2010) Cytogenet Genome Res , vol.129 , pp. 275-279
    • Rao, P.N.1    Li, W.2    Vissers, L.E.3    Veltman, J.A.4    Ophoff, R.A.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.