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Volumn 57, Issue 8, 2012, Pages 545-551

Efficient typing of copy number variations in a segmental duplication-mediated rearrangement hotspot using multiplex competitive amplification

Author keywords

CNV; competitive amplification; genotyping; MEIG1; segmental duplication

Indexed keywords

ARTICLE; CHINESE; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; COPY NUMBER VARIATION; DNA SEQUENCE; EXON; FERTILITY; GENE AMPLIFICATION; GENE DELETION; GENE LOCUS; GENE REARRANGEMENT; GENOTYPING TECHNIQUE; HUMAN; MAJOR CLINICAL STUDY; MALE; MULTIPLEX COMPETITIVE AMPLIFICATION; SEGMENTAL DUPLICATION; SPERMATOGENESIS; TANDEM REPEAT;

EID: 84865692350     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2012.66     Document Type: Article
Times cited : (62)

References (29)
  • 2
    • 0036468807 scopus 로고    scopus 로고
    • Genome architecture, rearrangements and genomic disorders
    • Stankiewicz, P. & Lupski, J. R. Genome architecture, rearrangements and genomic disorders. Trends Genet. 18, 74-82 (2002).
    • (2002) Trends Genet. , vol.18 , pp. 74-82
    • Stankiewicz, P.1    Lupski, J.R.2
  • 3
    • 62649088108 scopus 로고    scopus 로고
    • Population analysis of large copy number variants and hotspots of human genetic disease
    • Itsara, A., Cooper, GM., Baker, C., Girirajan, S., Li, J., Absher, D. et al. Population analysis of large copy number variants and hotspots of human genetic disease. Am. J. Hum. Genet. 84, 148-161 (2009).
    • (2009) Am. J. Hum. Genet. , vol.84 , pp. 148-161
    • Itsara, A.1    Cooper, G.M.2    Baker, C.3    Girirajan, S.4    Li, J.5    Absher, D.6
  • 4
    • 77957737256 scopus 로고    scopus 로고
    • Identification of copy number variation hotspots in human populations
    • Fu, W., Zhang, F., Wang, Y., Gu, X. & Jin, L. Identification of copy number variation hotspots in human populations. Am. J. Hum. Genet. 87, 494-504 (2010).
    • (2010) Am. J. Hum. Genet. , vol.87 , pp. 494-504
    • Fu, W.1    Zhang, F.2    Wang, Y.3    Gu, X.4    Jin, L.5
  • 5
    • 80053908833 scopus 로고    scopus 로고
    • Frequency of nonallelic homologous recombination is correlated with length of homology: Evidence that ectopic synapsis precedes ectopic crossing-over
    • Liu, P., Lacaria, M., Zhang, F., Withers, M, Hastings, P. J., Lupski, J. R. et al. Frequency of nonallelic homologous recombination is correlated with length of homology: evidence that ectopic synapsis precedes ectopic crossing-over. Am. J. Hum. Genet. 89, 580-588 (2011).
    • (2011) Am. J. Hum. Genet. , vol.89 , pp. 580-588
    • Liu, P.1    Lacaria, M.2    Zhang, F.3    Withers, M.4    Hastings, P.J.5    Lupski, J.R.6
  • 7
    • 78651379303 scopus 로고    scopus 로고
    • Structural variation of the human genome: Mechanisms, assays, and role in male infertility
    • Carvalho, C. M., Zhang, F. & Lupski, J. R. Structural variation of the human genome: mechanisms, assays, and role in male infertility. Syst. Biol. Reprod. Med. 57, 3-16 (2011).
    • (2011) Syst. Biol. Reprod. Med. , vol.57 , pp. 3-16
    • Carvalho, C.M.1    Zhang, F.2    Lupski, J.R.3
  • 8
    • 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., Oates, R. et al. Deletion of azoospermia factor a (AZFa) region of human Y chromosome caused by recombination between HERV15 proviruses. Hum. Mol. Genet. 9, 2291-2296 (2000).
    • (2000) Hum. Mol. Genet. , vol.9 , pp. 2291-2296
    • Sun, C.1    Skaletsky, H.2    Rozen, S.3    Gromoll, J.4    Nieschlag, E.5    Oates, R.6
  • 9
    • 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., Oates, R. D. et al. Recombination between palindromes P5 and P1 on the human Y chromosome causes massive deletions and spermatogenic failure. Am. J. Hum. Genet. 71, 906-922 (2002).
    • (2002) Am. J. Hum. Genet. , vol.71 , pp. 906-922
    • Repping, S.1    Skaletsky, H.2    Lange, J.3    Silber, S.4    Der Veen, F.5    Oates, R.D.6
  • 10
    • 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, L. G., Minx, P. J., Cordum, H. S., Waterston, R. H. et al. The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men. Nat. Genet. 29, 279-286 (2001).
    • (2001) Nat. Genet. , vol.29 , pp. 279-286
    • Kuroda-Kawaguchi, T.1    Skaletsky, H.2    Brown, L.G.3    Minx, P.J.4    Cordum, H.S.5    Waterston, R.H.6
  • 13
    • 61849119167 scopus 로고    scopus 로고
    • The b2/b3 subdeletion shows higher risk of spermatogenic failure and higher frequency of complete AZFc deletion than the gr/gr subdeletion in a Chinese population
    • Lu, C., Zhang, J., Li, Y., Xia, Y., Zhang, F., Wu, B. et al. The b2/b3 subdeletion shows higher risk of spermatogenic failure and higher frequency of complete AZFc deletion than the gr/gr subdeletion in a Chinese population. Hum. Mol. Genet. 18, 1122-1130 (2009).
    • (2009) Hum. Mol. Genet. , vol.18 , pp. 1122-1130
    • Lu, C.1    Zhang, J.2    Li, Y.3    Xia, Y.4    Zhang, F.5    Wu, B.6
  • 14
    • 67649878596 scopus 로고    scopus 로고
    • The DNA replication FoSTeS/MMBIR mechanism can generate human genomic, genic, and exonic complex rearrangements
    • Zhang, F., Khajavi, M., Connolly, A. M., Towne, C. F., Batish, S. D., Lupski, J. R. et al. The DNA replication FoSTeS/MMBIR mechanism can generate human genomic, genic, and exonic complex rearrangements. Nat. Genet. 41, 849-853 (2009).
    • (2009) Nat. Genet. , vol.41 , pp. 849-853
    • Zhang, F.1    Khajavi, M.2    Connolly, A.M.3    Towne, C.F.4    Batish, S.D.5    Lupski, J.R.6
  • 15
    • 0035917489 scopus 로고    scopus 로고
    • Artemis, a novel DNA double-strand break repair/V (D) J recombination protein, is mutated in human severe combined immune deficiency
    • Moshous, D., Callebaut, I., de Chasseval, R., Corneo, B., Cavazzana-Calvo, M., Le Deist, F. et al. Artemis, a novel DNA double-strand break repair/V (D) J recombination protein, is mutated in human severe combined immune deficiency. Cell 105, 177-186 (2001).
    • (2001) Cell , vol.105 , pp. 177-186
    • Moshous, D.1    Callebaut, I.2    De Chasseval, R.3    Corneo, B.4    Cavazzana-Calvo, M.5    Deist, F.6
  • 16
    • 75149180100 scopus 로고    scopus 로고
    • The most frequent DCLRE1C (ARTEMIS) mutations are based on homologous recombination events
    • Pannicke, U., Hönig, M., Schulze, I., Rohr, J., Heinz, G. A., Braun, S. et al. The most frequent DCLRE1C (ARTEMIS) mutations are based on homologous recombination events. Hum. Mutat. 31, 197-207 (2009).
    • (2009) Hum. Mutat. , vol.31 , pp. 197-207
    • Pannicke, U.1    Hönig, M.2    Schulze, I.3    Rohr, J.4    Heinz, G.A.5    Braun, S.6
  • 17
    • 34447324101 scopus 로고    scopus 로고
    • Partial deletions are associated with an increased risk of complete deletion in AZFc: A new insight into the role of partial AZFc deletions in male infertility
    • Zhang, F., Lu, C., Li, Z., Xie, P., Xia, Y., Zhu, X, et al. Partial deletions are associated with an increased risk of complete deletion in AZFc: a new insight into the role of partial AZFc deletions in male infertility. J. Med. Genet. 44, 437-444 (2007).
    • (2007) J. Med. Genet , vol.44 , pp. 437-444
    • Zhang, F.1    Lu, C.2    Li, Z.3    Xie, P.4    Xia, Y.5    Zhu, X.6
  • 18
    • 33847390726 scopus 로고    scopus 로고
    • Accurate, high-throughput typing of copy number variation using paralogue ratios from dispersed repeats
    • Armour, J. A., Palla, R., Zeeuwen, P. L., den Heijer, M., Schalkwijk, J., Hollox, E. J. et al. Accurate, high-throughput typing of copy number variation using paralogue ratios from dispersed repeats. Nucleic Acids Res. 35, e19 (2007).
    • (2007) Nucleic Acids Res. , vol.35
    • Armour, J.A.1    Palla, R.2    Zeeuwen, P.L.3    Heijer, D.M.4    Schalkwijk, J.5    Hollox, E.J.6
  • 19
    • 3543023204 scopus 로고    scopus 로고
    • Relative quantification of 40 nucleic acid sequences by multiplex ligationdependent probe amplification
    • Schouten, J. P., McElgunn, C. J., Waaijer, R., Zwijnenburg, D., Diepvens, F., Pals, G. et al. Relative quantification of 40 nucleic acid sequences by multiplex ligationdependent probe amplification. Nucleic Acids Res. 30, e57 (2002).
    • (2002) Nucleic Acids Res. , vol.30
    • Schouten, J.P.1    McElgunn, C.J.2    Waaijer, R.3    Zwijnenburg, D.4    Diepvens, F.5    Pals, G.6
  • 20
    • 64349108121 scopus 로고    scopus 로고
    • Designing a simple multiplex ligation-dependent probe amplification (MLPA) assay for rapid detection of copy number variants in the genome
    • Shen, Y. & Wu, B. L. Designing a simple multiplex ligation-dependent probe amplification (MLPA) assay for rapid detection of copy number variants in the genome. J. Genet. Genomics 36, 257-265 (2009).
    • (2009) J. Genet. Genomics , vol.36 , pp. 257-265
    • Shen, Y.1    Wu, B.L.2
  • 21
    • 7244245762 scopus 로고    scopus 로고
    • Finishing the euchromatic sequence of the human genome
    • International Human Genome Sequencing Consortium
    • International Human Genome Sequencing Consortium. Finishing the euchromatic sequence of the human genome. Nature 431, 931-945 (2004).
    • (2004) Nature , vol.431 , pp. 931-945
  • 22
    • 33745373606 scopus 로고    scopus 로고
    • Primate segmental duplications: Crucibles of evolution, diversity and disease
    • Bailey, J. A. & Eichler, E. E. Primate segmental duplications: crucibles of evolution, diversity and disease. Nat. Rev. Genet. 7, 552-564 (2006).
    • (2006) Nat. Rev. Genet. , vol.7 , pp. 552-564
    • Bailey, J.A.1    Eichler, E.E.2
  • 23
    • 33745244299 scopus 로고    scopus 로고
    • Human genomic deletions mediated by recombination between Alu elements
    • Sen, S. K., Han, K., Wang, J., Lee, J., Wang, H., Callinan, P. A. et al. Human genomic deletions mediated by recombination between Alu elements. Am. J. Hum. Genet. 79, 41-53 (2006).
    • (2006) Am. J. Hum. Genet. , vol.79 , pp. 41-53
    • Sen, S.K.1    Han, K.2    Wang, J.3    Lee, J.4    Wang, H.5    Callinan, P.A.6
  • 24
    • 35948983427 scopus 로고    scopus 로고
    • Alu recombination-mediated structural deletions in the chimpanzee genome
    • Han, K., Lee, J., Meyer, T. J., Wang, J., Sen, S. K., Srikanta, D. et al. Alu recombination-mediated structural deletions in the chimpanzee genome. PLoS Genet. 3, 1939-1949 (2007).
    • (2007) PLoS Genet. , vol.3 , pp. 1939-1949
    • Han, K.1    Lee, J.2    Meyer, T.J.3    Wang, J.4    Sen, S.K.5    Srikanta, D.6
  • 25
    • 35348988679 scopus 로고    scopus 로고
    • Paired-end mapping reveals extensive structural variation in the human genome
    • Korbel, J. O., Urban, A. E., Affourtit, J. P., Godwin, B., Grubert, F., Simons, J. F et al. Paired-end mapping reveals extensive structural variation in the human genome. Science 318, 420-426 (2007).
    • (2007) Science , vol.318 , pp. 420-426
    • Korbel, J.O.1    Urban, A.E.2    Affourtit, J.P.3    Godwin, B.4    Grubert, F.5    Simons, J.F.6
  • 26
    • 37549018501 scopus 로고    scopus 로고
    • Germline rates of de novo meiotic deletions and duplications causing several genomic disorders
    • Turner, D. J., Miretti, M., Rajan, D., Fiegler, H, Carter, N. P., Blayney, M. L. et al. Germline rates of de novo meiotic deletions and duplications causing several genomic disorders. Nat. Genet. 40, 90-95 (2008).
    • (2008) Nat. Genet. , vol.40 , pp. 90-95
    • Turner, D.J.1    Miretti, M.2    Rajan, D.3    Fiegler, H.4    Carter, N.P.5    Blayney, M.L.6
  • 27
    • 39749197456 scopus 로고    scopus 로고
    • Genotype, haplotype and copy-number variation in worldwide human populations
    • Jakobsson, M., Scholz, S. W., Scheet, P., Gibbs, J. R., VanLiere, J. M., Fung, H. C. et al. Genotype, haplotype and copy-number variation in worldwide human populations. Nature 451, 998-1003 (2008).
    • (2008) Nature , vol.451 , pp. 998-1003
    • Jakobsson, M.1    Scholz, S.W.2    Scheet, P.3    Gibbs, J.R.4    VanLiere, J.M.5    Fung, H.C.6
  • 28
    • 69749121852 scopus 로고    scopus 로고
    • Highresolution mapping and analysis of copy number variations in the human genome: A data resource for clinical and research applications
    • Shaikh, T. H., Gai, X., Perin, J. C., Glessner, J. T., Xie, H., Murphy, K et al. Highresolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications. Genome Res. 19, 1682-1690 (2009).
    • (2009) Genome Res. , vol.19 , pp. 1682-1690
    • Shaikh, T.H.1    Gai, X.2    Perin, J.C.3    Glessner, J.T.4    Xie, H.5    Murphy, K.6
  • 29
    • 77951719393 scopus 로고    scopus 로고
    • Discovery of common Asian copy number variants using integrated high-resolution array CGH and massively parallel DNA sequencing
    • Park, H., Kim, J. I., Ju, Y. S., Gokcumen, O., Mills, R. E., Kim, S. et al. Discovery of common Asian copy number variants using integrated high-resolution array CGH and massively parallel DNA sequencing. Nat. Genet. 42, 400-405 (2010).
    • (2010) Nat. Genet. , vol.42 , pp. 400-405
    • Park, H.1    Kim, J.I.2    Ju, Y.S.3    Gokcumen, O.4    Mills, R.E.5    Kim, S.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.