메뉴 건너뛰기




Volumn 20, Issue 10, 2011, Pages 1925-1936

FoSTeS, MMBIR and NAHR at the human proximal Xp region and the mechanisms of human Xq isochromosome formation

Author keywords

[No Author keywords available]

Indexed keywords

DNA; PALINDROMIC DNA;

EID: 79955414171     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddr074     Document Type: Article
Times cited : (31)

References (62)
  • 5
    • 6344289639 scopus 로고    scopus 로고
    • Inverted repeat structure of the human genome: the X-chromosome contains a preponderance of large, highly homologous inverted repeats that contain testes genes
    • Warburton, P.E., Giordano, J., Cheung, F., Gelfand, Y. and Benson, G. (2004) Inverted repeat structure of the human genome: the X-chromosome contains a preponderance of large, highly homologous inverted repeats that contain testes genes. Genome Res., 14, 1861-1869.
    • (2004) Genome Res. , vol.14 , pp. 1861-1869
    • Warburton, P.E.1    Giordano, J.2    Cheung, F.3    Gelfand, Y.4    Benson, G.5
  • 6
    • 0020634258 scopus 로고
    • The distribution of chromosomal genotypes associated with Turner's syndrome: livebirth prevalence rates and evidence for diminished fetal mortality and severity in genotypes associated with structural X abnormalities or mosaicism
    • Hook, E.B. and Warburton, D. (1983) The distribution of chromosomal genotypes associated with Turner's syndrome: livebirth prevalence rates and evidence for diminished fetal mortality 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
  • 7
    • 0017028004 scopus 로고
    • Chromosomal and clinical findings in 110 females with Turner syndrome
    • Palmer, C.G. and Reichmann, A. (1976) Chromosomal and clinical findings in 110 females with Turner syndrome. Hum. Genet., 35, 35-49.
    • (1976) Hum. Genet. , vol.35 , pp. 35-49
    • Palmer, C.G.1    Reichmann, A.2
  • 9
    • 0026042198 scopus 로고
    • A molecular study of X isochromosomes: parental origin, centromeric structure, and mechanisms of formation
    • Lorda-Sanchez, I., Binkert, F., Maechler, M. and Schinzel, A. (1991) A molecular study of X isochromosomes: parental origin, centromeric structure, and mechanisms of formation. Am. J. Hum. Genet., 49, 1034-1040.
    • (1991) Am. J. Hum. Genet. , vol.49 , pp. 1034-1040
    • Lorda-Sanchez, I.1    Binkert, F.2    Maechler, M.3    Schinzel, A.4
  • 10
    • 0029656085 scopus 로고    scopus 로고
    • Molecular definition of breakpoints associated with human Xq isochromosomes: implications for mechanisms of formation
    • Wolff, D.J., Miller, A.P., Van Dyke, D.L., Schwartz, S. and Willard, H.F. (1996) Molecular definition of breakpoints associated with human Xq isochromosomes: implications for mechanisms of formation. Am. J. Hum. Genet., 58, 154-160.
    • (1996) Am. J. Hum. Genet. , vol.58 , pp. 154-160
    • Wolff, D.J.1    Miller, A.P.2    Van Dyke, D.L.3    Schwartz, S.4    Willard, H.F.5
  • 12
    • 34347239702 scopus 로고    scopus 로고
    • Construction and use of spotted large-insert clone DNA microarrays for the detection of genomic copy number changes
    • Fiegler, H., Redon, R. and Carter, N.P. (2007) Construction and use of spotted large-insert clone DNA microarrays for the detection of genomic copy number changes. Nat. Protoc., 2, 577-587.
    • (2007) Nat. Protoc. , vol.2 , pp. 577-587
    • Fiegler, H.1    Redon, R.2    Carter, N.P.3
  • 14
  • 15
    • 0031767665 scopus 로고    scopus 로고
    • Stable dicentric X chromosomes with two functional centromeres
    • Sullivan, B.A. and Willard, H.F. (1998) Stable dicentric X chromosomes with two functional centromeres. Nat. Genet., 20, 227-228.
    • (1998) Nat. Genet. , vol.20 , pp. 227-228
    • Sullivan, B.A.1    Willard, H.F.2
  • 16
    • 0031911344 scopus 로고    scopus 로고
    • Physical and genetic mapping of the human X chromosome centromere: repression of recombination
    • Mahtani, M.M. and Willard, H.F. (1998) Physical and genetic mapping of the human X chromosome centromere: repression of recombination. Genome Res., 8, 100-110.
    • (1998) Genome Res. , vol.8 , pp. 100-110
    • Mahtani, M.M.1    Willard, H.F.2
  • 17
    • 26244439500 scopus 로고    scopus 로고
    • Effect of meiotic recombination on the production of aneuploid gametes in humans
    • Lamb, N.E., Sherman, S.L. and Hassold, T.J. (2005) Effect of meiotic recombination on the production of aneuploid gametes in humans. Cytogenet. Genome Res., 111, 250-255.
    • (2005) Cytogenet. Genome Res. , vol.111 , pp. 250-255
    • Lamb, N.E.1    Sherman, S.L.2    Hassold, T.J.3
  • 18
    • 77950586378 scopus 로고    scopus 로고
    • Centromeres convert but don't cross
    • Talbert, P.B. and Henikoff, S. (2010) Centromeres convert but don't cross. PLoS Biol., 8, e1000326.
    • (2010) PLoS Biol. , vol.8
    • Talbert, P.B.1    Henikoff, S.2
  • 19
    • 77952573875 scopus 로고    scopus 로고
    • Molecular and evolutionary characteristics of the fraction of human alpha satellite DNA associated with CENP-A at the centromeres of chromosomes 1, 5, 19, and 21
    • Pironon, N., Puechberty, J. and Roizes, G. (2010) Molecular and evolutionary characteristics of the fraction of human alpha satellite DNA associated with CENP-A at the centromeres of chromosomes 1, 5, 19, and 21. BMC Genomics, 11, 195.
    • (2010) BMC Genomics , vol.11 , pp. 195
    • Pironon, N.1    Puechberty, J.2    Roizes, G.3
  • 20
    • 0036911492 scopus 로고    scopus 로고
    • Evidence for a fast, intrachromosomal conversion mechanism from mapping of nucleotide variants within a homogeneous alpha-satellite DNA array
    • Schindelhauer, D. and Schwarz, T. (2002) Evidence for a fast, intrachromosomal conversion mechanism from mapping of nucleotide variants within a homogeneous alpha-satellite DNA array. Genome Res., 12, 1815-1826.
    • (2002) Genome Res. , vol.12 , pp. 1815-1826
    • Schindelhauer, D.1    Schwarz, T.2
  • 21
    • 56049098748 scopus 로고    scopus 로고
    • Hairpin structures formed by alpha satellite DNA of human centromeres are cleaved by human topoisomerase IIalpha
    • Jonstrup, A.T., Thomsen, T., Wang, Y., Knudsen, B.R., Koch, J. and Andersen, A.H. (2008) Hairpin structures formed by alpha satellite DNA of human centromeres are cleaved by human topoisomerase IIalpha. Nucleic Acids Res., 36, 6165-6174.
    • (2008) Nucleic Acids Res. , vol.36 , pp. 6165-6174
    • Jonstrup, A.T.1    Thomsen, T.2    Wang, Y.3    Knudsen, B.R.4    Koch, J.5    Andersen, A.H.6
  • 22
    • 69749090013 scopus 로고    scopus 로고
    • Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding
    • McKernan, K.J., Peckham, H.E., Costa, G.L., McLaughlin, S.F., Fu, Y., Tsung, E.F., Clouser, C.R., Duncan, C., Ichikawa, J.K., Lee, C.C. et al. (2009) Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding. Genome Res., 19, 1527-1541.
    • (2009) Genome Res. , vol.19 , pp. 1527-1541
    • McKernan, K.J.1    Peckham, H.E.2    Costa, G.L.3    McLaughlin, S.F.4    Fu, Y.5    Tsung, E.F.6    Clouser, C.R.7    Duncan, C.8    Ichikawa, J.K.9    Lee, C.C.10
  • 23
    • 36549081426 scopus 로고    scopus 로고
    • Mapping of meiotic single-stranded DNA reveals double-stranded-break hotspots near centromeres and telomeres
    • Blitzblau, H.G., Bell, G.W., Rodriguez, J., Bell, S.P. and Hochwagen, A. (2007) Mapping of meiotic single-stranded DNA reveals double-stranded-break hotspots near centromeres and telomeres. Curr. Biol., 17, 2003-2012.
    • (2007) Curr. Biol. , vol.17 , pp. 2003-2012
    • Blitzblau, H.G.1    Bell, G.W.2    Rodriguez, J.3    Bell, S.P.4    Hochwagen, A.5
  • 25
    • 0020367121 scopus 로고
    • How do human isochromosomes arise?
    • de la Chapelle, A. (1982) How do human isochromosomes arise? Cancer Genet. Cytogenet., 5, 173-179.
    • (1982) Cancer Genet. Cytogenet. , vol.5 , pp. 173-179
    • de la Chapelle, A.1
  • 26
    • 9144264835 scopus 로고    scopus 로고
    • The breakpoint region of the most common isochromosome, i(17q), in human neoplasia is characterized by a complex genomic architecture with large, palindromic, low-copy repeats
    • Barbouti, A., Stankiewicz, P., Nusbaum, C., Cuomo, C., Cook, A., Hoglund, M., Johansson, B., Hagemeijer, A., Park, S.S., Mitelman, F. et al. (2004) The breakpoint region of the most common isochromosome, i(17q), in human neoplasia is characterized by a complex genomic architecture with large, palindromic, low-copy repeats. Am. J. Hum. Genet., 74, 1-10.
    • (2004) Am. J. Hum. Genet. , vol.74 , pp. 1-10
    • Barbouti, A.1    Stankiewicz, P.2    Nusbaum, C.3    Cuomo, C.4    Cook, A.5    Hoglund, M.6    Johansson, B.7    Hagemeijer, A.8    Park, S.S.9    Mitelman, F.10
  • 27
    • 77955381342 scopus 로고    scopus 로고
    • Large inverted repeats within Xp11.2 are present at the breakpoints of isodicentric X chromosomes in Turner syndrome
    • Scott, S.A., Cohen, N., Brandt, T., Warburton, P.E. and Edelmann, L. (2010) Large inverted repeats within Xp11.2 are present at the breakpoints of isodicentric X chromosomes in Turner syndrome. Hum. Mol. Genet., 19, 3383-3393.
    • (2010) Hum. Mol. Genet. , vol.19 , pp. 3383-3393
    • Scott, S.A.1    Cohen, N.2    Brandt, T.3    Warburton, P.E.4    Edelmann, L.5
  • 28
    • 0031972093 scopus 로고    scopus 로고
    • Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients
    • Reiter, L.T., Hastings, P.J., Nelis, E., De Jonghe, P., Van Broeckhoven, C. and Lupski, J.R. (1998) Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients. Am. J. Hum. Genet., 62, 1023-1033.
    • (1998) Am. J. Hum. Genet. , vol.62 , pp. 1023-1033
    • Reiter, L.T.1    Hastings, P.J.2    Nelis, E.3    De Jonghe, P.4    Van Broeckhoven, C.5    Lupski, J.R.6
  • 29
    • 38049115657 scopus 로고    scopus 로고
    • The mechanism of human nonhomologous DNA end joining
    • Lieber, M.R. (2008) The mechanism of human nonhomologous DNA end joining. J. Biol. Chem., 283, 1-5.
    • (2008) J. Biol. Chem. , vol.283 , pp. 1-5
    • Lieber, M.R.1
  • 31
    • 13444294231 scopus 로고    scopus 로고
    • Meta-analysis of gross insertions causing human genetic disease: novel mutational mechanisms and the role of replication slippage
    • Chen, J.M., Chuzhanova, N., Stenson, P.D., Ferec, C. and Cooper, D.N. (2005) Meta-analysis of gross insertions causing human genetic disease: novel mutational mechanisms and the role of replication slippage. Hum. Mutat., 25, 207-221.
    • (2005) Hum. Mutat. , vol.25 , pp. 207-221
    • Chen, J.M.1    Chuzhanova, N.2    Stenson, P.D.3    Ferec, C.4    Cooper, D.N.5
  • 32
    • 22844446638 scopus 로고    scopus 로고
    • Complex gene rearrangements caused by serial replication slippage
    • Chen, J.M., Chuzhanova, N., Stenson, P.D., Ferec, C. and Cooper, D.N. (2005) Complex gene rearrangements caused by serial replication slippage. Hum. Mutat., 26, 125-134.
    • (2005) Hum. Mutat. , vol.26 , pp. 125-134
    • Chen, J.M.1    Chuzhanova, N.2    Stenson, P.D.3    Ferec, C.4    Cooper, D.N.5
  • 33
    • 25444522500 scopus 로고    scopus 로고
    • Intrachromosomal serial replication slippage in trans gives rise to diverse genomic rearrangements involving inversions
    • Chen, J.M., Chuzhanova, N., Stenson, P.D., Ferec, C. and Cooper, D.N. (2005) Intrachromosomal serial replication slippage in trans gives rise to diverse genomic rearrangements involving inversions. Hum. Mutat., 26, 362-373.
    • (2005) Hum. Mutat. , vol.26 , pp. 362-373
    • Chen, J.M.1    Chuzhanova, N.2    Stenson, P.D.3    Ferec, C.4    Cooper, D.N.5
  • 35
    • 37349109667 scopus 로고    scopus 로고
    • A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders
    • Lee, J.A., Carvalho, C.M. and Lupski, J.R. (2007) A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders. Cell, 131, 1235-1247.
    • (2007) Cell , vol.131 , pp. 1235-1247
    • Lee, J.A.1    Carvalho, C.M.2    Lupski, J.R.3
  • 36
    • 59249105978 scopus 로고    scopus 로고
    • A microhomology-mediated break-induced replication model for the origin of human copy number variation
    • Hastings, P.J., Ira, G. and Lupski, J.R. (2009) A microhomology-mediated break-induced replication model for the origin of human copy number variation. PLoS Genet., 5, e1000327.
    • (2009) PLoS Genet. , vol.5
    • Hastings, P.J.1    Ira, G.2    Lupski, J.R.3
  • 38
    • 34347238951 scopus 로고    scopus 로고
    • Hairpin- and cruciform-mediated chromosome breakage: causes and consequences in eukaryotic cells
    • Lobachev, K.S., Rattray, A. and Narayanan, V. (2007) Hairpin- and cruciform-mediated chromosome breakage: causes and consequences in eukaryotic cells. Front. Biosci., 12, 4208-4220.
    • (2007) Front. Biosci. , vol.12 , pp. 4208-4220
    • Lobachev, K.S.1    Rattray, A.2    Narayanan, V.3
  • 39
  • 40
    • 0018823801 scopus 로고
    • Replication of eukaryotic chromosomes: a close-up of the replication fork
    • DePamphilis, M.L. and Wassarman, P.M. (1980) Replication of eukaryotic chromosomes: a close-up of the replication fork. Annu. Rev. Biochem., 49, 627-666.
    • (1980) Annu. Rev. Biochem. , vol.49 , pp. 627-666
    • DePamphilis, M.L.1    Wassarman, P.M.2
  • 41
    • 20644463916 scopus 로고    scopus 로고
    • The Artemis:DNA-PKcs endonuclease cleaves DNA loops, flaps, and gaps
    • Ma, Y., Schwarz, K. and Lieber, M.R. (2005) The Artemis:DNA-PKcs endonuclease cleaves DNA loops, flaps, and gaps. DNA Repair (Amst.), 4, 845-851.
    • (2005) DNA Repair (Amst.) , vol.4 , pp. 845-851
    • Ma, Y.1    Schwarz, K.2    Lieber, M.R.3
  • 42
    • 72849150228 scopus 로고    scopus 로고
    • Nearby inverted repeats fuse to generate acentric and dicentric palindromic chromosomes by a replication template exchange mechanism
    • Mizuno, K., Lambert, S., Baldacci, G., Murray, J.M. and Carr, A.M. (2009) Nearby inverted repeats fuse to generate acentric and dicentric palindromic chromosomes by a replication template exchange mechanism. Genes Dev., 23, 2876-2886.
    • (2009) Genes Dev. , vol.23 , pp. 2876-2886
    • Mizuno, K.1    Lambert, S.2    Baldacci, G.3    Murray, J.M.4    Carr, A.M.5
  • 43
    • 72849116104 scopus 로고    scopus 로고
    • Fusion of nearby inverted repeats by a replication-based mechanism leads to formation of dicentric and acentric chromosomes that cause genome instability in budding yeast
    • Paek, A.L., Kaochar, S., Jones, H., Elezaby, A., Shanks, L. and Weinert, T. (2009) Fusion of nearby inverted repeats by a replication-based mechanism leads to formation of dicentric and acentric chromosomes that cause genome instability in budding yeast. Genes Dev., 23, 2861-2875.
    • (2009) Genes Dev. , vol.23 , pp. 2861-2875
    • Paek, A.L.1    Kaochar, S.2    Jones, H.3    Elezaby, A.4    Shanks, L.5    Weinert, T.6
  • 50
    • 69649094812 scopus 로고    scopus 로고
    • Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females
    • Giorda, R., Bonaglia, M.C., Beri, S., Fichera, M., Novara, F., Magini, P., Urquhart, J., Sharkey, F.H., Zucca, C., Grasso, R. et al. (2009) Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females. Am. J. Hum. Genet., 85, 394-400.
    • (2009) Am. J. Hum. Genet. , vol.85 , pp. 394-400
    • Giorda, R.1    Bonaglia, M.C.2    Beri, S.3    Fichera, M.4    Novara, F.5    Magini, P.6    Urquhart, J.7    Sharkey, F.H.8    Zucca, C.9    Grasso, R.10
  • 51
    • 0026032989 scopus 로고
    • Localization of DNA sequences to a region within Xp11.21 between incontinentia pigmenti (IP1) X-chromosomal translocation breakpoints
    • Gorski, J.L., Burright, E.N., Harnden, C.E., Stein, C.K., Glover, T.W. and Reyner, E.L. (1991) Localization of DNA sequences to a region within Xp11.21 between incontinentia pigmenti (IP1) X-chromosomal translocation breakpoints. Am. J. Hum. Genet., 48, 53-64.
    • (1991) Am. J. Hum. Genet. , vol.48 , pp. 53-64
    • Gorski, J.L.1    Burright, E.N.2    Harnden, C.E.3    Stein, C.K.4    Glover, T.W.5    Reyner, E.L.6
  • 54
    • 0027933151 scopus 로고
    • Identification of novel genes, SYT and SSX, involved in the t(X;18)(p11. 2;q11. 2) translocation found in human synovial sarcoma
    • Clark, J., Rocques, P.J., Crew, A.J., Gill, S., Shipley, J., Chan, A.M., Gusterson, B.A. and Cooper, C.S. (1994) Identification of novel genes, SYT and SSX, involved in the t(X;18)(p11.2;q11.2) translocation found in human synovial sarcoma. Nat. Genet., 7, 502-508.
    • (1994) Nat. Genet. , vol.7 , pp. 502-508
    • Clark, J.1    Rocques, P.J.2    Crew, A.J.3    Gill, S.4    Shipley, J.5    Chan, A.M.6    Gusterson, B.A.7    Cooper, C.S.8
  • 56
    • 0020541955 scopus 로고
    • The double-strand-break repair model for recombination
    • Szostak, J.W., Orr-Weaver, T.L., Rothstein, R.J. and Stahl, F.W. (1983) The double-strand-break repair model for recombination. Cell, 33, 25-35.
    • (1983) Cell , vol.33 , pp. 25-35
    • Szostak, J.W.1    Orr-Weaver, T.L.2    Rothstein, R.J.3    Stahl, F.W.4
  • 57
  • 58
    • 0034284437 scopus 로고    scopus 로고
    • Repbase update: a database and an electronic journal of repetitive elements
    • Jurka, J. (2000) Repbase update: a database and an electronic journal of repetitive elements. Trends Genet., 16, 418-420.
    • (2000) Trends Genet. , vol.16 , pp. 418-420
    • Jurka, J.1
  • 59
    • 0033990048 scopus 로고    scopus 로고
    • Primer3 on the WWW for general users and for biologist programmers
    • Rozen, S. and Skaletsky, H. (2000) Primer3 on the WWW for general users and for biologist programmers. Methods Mol. Biol., 132, 365-386.
    • (2000) Methods Mol. Biol. , vol.132 , pp. 365-386
    • Rozen, S.1    Skaletsky, H.2
  • 61
    • 0036226603 scopus 로고    scopus 로고
    • BLAT-the BLAST-like alignment tool
    • Kent, W.J. (2002) BLAT-the BLAST-like alignment tool. Genome Res., 12, 656-664.
    • (2002) Genome Res. , vol.12 , pp. 656-664
    • Kent, W.J.1
  • 62
    • 0042121256 scopus 로고    scopus 로고
    • Mfold web server for nucleic acid folding and hybridization prediction
    • Zuker, M. (2003) Mfold web server for nucleic acid folding and hybridization prediction. Nucleic Acids Res., 31, 3406-3415.
    • (2003) Nucleic Acids Res. , vol.31 , pp. 3406-3415
    • Zuker, M.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.