메뉴 건너뛰기




Volumn 18, Issue 2, 2002, Pages 74-82

Genome architecture, rearrangements and genomic disorders

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA;

EID: 0036468807     PISSN: 01689525     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0168-9525(02)02592-1     Document Type: Review
Times cited : (730)

References (82)
  • 1
    • 0031731487 scopus 로고    scopus 로고
    • Genomic disorders: Structural features of the genome can lead to DNA rearrangements and human disease traits
    • (1998) Trends Genet. , vol.14 , pp. 417-422
    • Lupski, J.R.1
  • 2
    • 0034028921 scopus 로고    scopus 로고
    • Structure of chromosomal duplicons and their role in mediating human genomic disorders
    • (2000) Genome Res. , vol.10 , pp. 597-610
    • Ji, Y.1
  • 6
    • 2042437650 scopus 로고    scopus 로고
    • Initial sequencing and analysis of the human genome
    • (2001) Nature , vol.409 , pp. 860-921
  • 7
    • 0035865257 scopus 로고    scopus 로고
    • Integration of cytogenetic landmarks into the draft sequence of the human genome
    • (2001) Nature , vol.409 , pp. 953-958
    • Cheung, V.G.1
  • 8
    • 0035014731 scopus 로고    scopus 로고
    • Segmental duplications: What's missing, misassigned, and misassembled- and should we care?
    • (2001) Genome Res. , vol.11 , pp. 653-656
    • Eichler, E.E.1
  • 9
    • 0034831138 scopus 로고    scopus 로고
    • Segmental duplications: Organization and impact within the current human genome project assembly
    • (2001) Genome Res. , vol.11 , pp. 1005-1017
    • Bailey, J.A.1
  • 10
    • 0035807336 scopus 로고    scopus 로고
    • Positive selection of a gene family during the emergence of humans and African apes
    • (2001) Nature , vol.413 , pp. 514-519
    • Johnson, M.E.1
  • 14
    • 0032750691 scopus 로고    scopus 로고
    • CAGGG repeats and the pericentromeric duplication of the hominoid genome
    • Erratum in Genome Res. 9, 1321
    • (1999) Genome Res. , vol.9 , pp. 1048-1058
    • Eichler, E.E.1
  • 15
    • 0029962292 scopus 로고    scopus 로고
    • A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element
    • Erratum in Nat. Genet. 19, 303
    • (1996) Nat. Genet. , vol.12 , pp. 288-297
    • Reiter, L.T.1
  • 16
    • 0031972093 scopus 로고    scopus 로고
    • Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients
    • (1998) Am. J. Hum. Genet. , vol.62 , pp. 1023-1033
    • Reiter, L.T.1
  • 18
    • 0034892401 scopus 로고    scopus 로고
    • Molecular characterization and gene content of breakpoint boundaries in patients with neurofibromatosis type 1 with 17q11.2 microdeletions
    • (2001) Am. J. Hum. Genet. , vol.69 , pp. 516-527
    • Jenne, D.E.1
  • 20
    • 0030933680 scopus 로고    scopus 로고
    • Double-strand breaks may initiate the inversion mutation causing the Hunter syndrome
    • (1997) Hum. Mol. Genet. , vol.6 , pp. 627-633
    • Lagerstedt, K.1
  • 21
    • 0032695458 scopus 로고    scopus 로고
    • Homologous DNA exchanges in humans can be explained by the yeast double-strand break repair model: A study of 17p11.2 rearrangements associated with CMT1A and HNPP
    • (1999) Hum. Mol. Genet. , vol.8 , pp. 2285-2292
    • Lopes, J.1
  • 22
    • 0032879002 scopus 로고    scopus 로고
    • Localization of mariner DNA transposons in the human genome by PRINS
    • (1999) Genome Res. , vol.9 , pp. 839-843
    • Reiter, L.T.1
  • 23
    • 0028206864 scopus 로고
    • Meiosis-induced double-strand break sites determined by yeast chromatin structure
    • (1994) Science , vol.263 , pp. 515-518
    • Wu, T.C.1    Lichten, M.2
  • 24
    • 0033785321 scopus 로고    scopus 로고
    • Divergent outcomes of intrachromosomal recombination on the human Y chromosome: Male infertility and recurrent polymorphism
    • (2000) J. Med. Genet. , vol.37 , pp. 752-758
    • Blanco, P.1
  • 25
    • 0033941864 scopus 로고    scopus 로고
    • Characterization of the NPHP1 locus: Mutational mechanism involved in deletions in familial juvenile nephronophthisis
    • (2000) Am. J. Hum. Genet. , vol.66 , pp. 778-789
    • Saunier, S.1
  • 28
    • 0027017033 scopus 로고
    • Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit
    • (1992) Nat. Genet. , vol.2 , pp. 292-300
    • Pentao, L.1
  • 29
    • 0027972378 scopus 로고
    • Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17
    • (1994) Hum. Mol. Genet. , vol.3 , pp. 223-228
    • Chance, P.F.1
  • 30
    • 0034830932 scopus 로고    scopus 로고
    • The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes
    • (2001) Genome Res. , vol.11 , pp. 1018-1033
    • Inoue, K.1
  • 31
    • 0025868571 scopus 로고
    • DNA duplication associated with Charcot-Marie-Tooth disease type 1A
    • (1991) Cell , vol.66 , pp. 219-232
    • Lupski, J.R.1
  • 32
    • 0025997898 scopus 로고
    • Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a)
    • The HMSN Collaborative Research Group
    • (1991) Neuromuscular Disord. , vol.1 , pp. 93-97
    • Raeymaekers, P.1
  • 33
    • 0033987366 scopus 로고    scopus 로고
    • Molecular mechanism for duplication 17p11.2 - The homologous recombination reciprocal of the Smith-Magenis microdeletion
    • (2000) Nat. Genet. , vol.24 , pp. 84-87
    • Potocki, L.1
  • 34
  • 35
    • 0031005848 scopus 로고    scopus 로고
    • Emerin deletion reveals a common X-chromosome inversion mediated by inverted repeats
    • (1997) Nat. Genet. , vol.16 , pp. 96-99
    • Small, K.1
  • 36
    • 0035071955 scopus 로고    scopus 로고
    • Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements
    • (2001) Am. J. Hum. Genet. , vol.68 , pp. 874-883
    • Giglio, S.1
  • 39
    • 0032971379 scopus 로고    scopus 로고
    • Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13)
    • (1999) Hum. Mol. Genet. , vol.8 , pp. 1025-1037
    • Christian, S.L.1
  • 40
    • 0034161932 scopus 로고    scopus 로고
    • Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: Genomic organization and deletion endpoint analysis
    • (2000) Hum. Mol. Genet. , vol.9 , pp. 489-501
    • Shaikh, T.H.1
  • 41
    • 0034234453 scopus 로고    scopus 로고
    • Regions of genomic instability on 22q11 and 11q23 as the etiology for the recurrent constitutional t(11;22)
    • (2000) Hum. Mol. Genet. , vol.9 , pp. 1665-1670
    • Kurahashi, H.1
  • 43
    • 0027759563 scopus 로고
    • Origin of the de novo duplication in Charcot-Marie-Tooth disease type 1A: Unequal nonsister chromatid exchange during spermatogenesis
    • (1993) Hum. Mol. Genet. , vol.2 , pp. 2031-2035
    • Palau, F.1
  • 44
    • 84984760579 scopus 로고    scopus 로고
    • Sex-dependent rearrangements resulting in CMT1A and HNPP
    • (1997) Nat. Genet. , vol.17 , pp. 136-137
    • Lopes, J.1
  • 45
    • 0030782363 scopus 로고    scopus 로고
    • De novo rearrangements found in 2% of index patients with spinal muscular atrophy: Mutational mechanisms, parental origin, mutation rate, and implications for genetic counseling
    • (1997) Am. J. Hum. Genet. , vol.61 , pp. 1102-1111
    • Wirth, B.1
  • 46
    • 0029969028 scopus 로고    scopus 로고
    • Sex differences in mutational rate and mutational mechanism in the NF1 gene in neurofibromatosis type 1 patients
    • (1996) Hum. Genet. , vol.98 , pp. 696-699
    • Lázaro, C.1
  • 47
    • 0031744843 scopus 로고    scopus 로고
    • Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay
    • (1998) Hum. Genet. , vol.102 , pp. 591-597
    • Upadhyaya, M.1
  • 48
    • 0027381005 scopus 로고
    • Clinical, cytogenetic, and molecular evidence for an infant with Smith-Magenis syndrome born from a mother having a mosaic 17p11.2p12 deletion
    • (1993) Am. J. Med. Genet. , vol.47 , pp. 504-511
    • Zori, R.T.1
  • 51
    • 17944367325 scopus 로고    scopus 로고
    • A polymorphic genomic duplication on human chromosome 15 is a susceptibility factor for panic and phobic disorders
    • (2001) Cell , vol.106 , pp. 367-379
    • Gratacòs, M.1
  • 52
    • 0029944979 scopus 로고    scopus 로고
    • Mosaicism for the Charcot-Marie-Tooth disease type 1A duplication suggests somatic reversion
    • (1996) Hum. Genet. , vol.98 , pp. 22-28
    • Liehr, T.1
  • 54
    • 9044227270 scopus 로고    scopus 로고
    • Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis
    • (1996) Hum. Mol. Genet. , vol.5 , pp. 367-371
    • Konrad, M.1
  • 56
    • 0034713270 scopus 로고    scopus 로고
    • Genomic rearrangement in NEMO impairs NF-κB activation and is a cause of incontinentia pigmenti
    • (2000) Nature , vol.405 , pp. 466-472
  • 57
    • 0034641881 scopus 로고    scopus 로고
    • Two long homologous retroviral sequence blocks in proximal Yq11 cause AZFa microdeletions as a result of intrachromosomal recombination events
    • (2000) Hum. Mol. Genet. , vol.9 , pp. 2563-2572
    • Kamp, C.1
  • 58
    • 0034703178 scopus 로고    scopus 로고
    • Deletion of azoospermia factor a (AZFa) region of human Y chromosome caused by recombination between HERV15 proviruses
    • (2000) Hum. Mol. Genet. , vol.9 , pp. 2291-2296
    • Sun, C.1
  • 59
    • 0035184973 scopus 로고    scopus 로고
    • The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men
    • (2001) Nat. Genet. , vol.29 , pp. 279-286
    • Kuroda-Kawaguchi, T.1
  • 60
  • 62
    • 0033939577 scopus 로고    scopus 로고
    • A physical map, including a BAC/PAC clone contig, of the Williams-Beuren syndrome-deletion region at 7q11.23
    • (2000) Am. J. Hum. Genet. , vol.66 , pp. 47-68
    • Peoples, R.1
  • 63
    • 0034306681 scopus 로고    scopus 로고
    • Fine-scale comparative mapping of the human 7q11.23 region and the orthologous region on mouse chromosome 5G: The low-copy repeats that flank the Williams-Beuren syndrome deletion arose at breakpoint sites of an evolutionary inversion(s)
    • (2000) Genomics , vol.69 , pp. 1-13
    • Valero, M.C.1
  • 64
    • 0035179436 scopus 로고    scopus 로고
    • A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome
    • (2001) Nat. Genet. , vol.29 , pp. 321-325
    • Osborne, L.R.1
  • 65
    • 0030863574 scopus 로고    scopus 로고
    • Inter- and intrachromosomal rearrangements are both involved in the origin of 15q11-q13 deletions in Prader-Willi syndrome
    • (1997) Am. J. Hum. Genet. , vol.61 , pp. 228-231
    • Carrozzo, R.1
  • 66
    • 0031981973 scopus 로고    scopus 로고
    • The mechanisms involved in formation of deletions and duplications of 15q11-q13
    • (1998) J. Med. Genet. , vol.35 , pp. 130-136
    • Robinson, W.P.1
  • 67
    • 0033361765 scopus 로고    scopus 로고
    • Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints
    • (1999) Am. J. Hum. Genet. , vol.65 , pp. 370-386
    • Amos-Landgraf, J.M.1
  • 68
    • 0032169436 scopus 로고    scopus 로고
    • Interstitial duplications of chromosome region 15q11q13: Clinical and molecular characterization
    • (1998) Am. J. Med. Genet. , vol.79 , pp. 82-89
    • Repetto, G.M.1
  • 69
    • 0035136724 scopus 로고    scopus 로고
    • Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14
    • (2001) J. Med. Genet. , vol.38 , pp. 26-34
    • Ungaro, P.1
  • 70
    • 0031920916 scopus 로고    scopus 로고
    • Triplication of 15q11-q13 with inv dup(15) in a female with developmental delay
    • (1998) J. Med. Genet. , vol.5 , pp. 425-428
    • Long, F.L.1
  • 71
    • 0030881588 scopus 로고    scopus 로고
    • Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome
    • (1997) Nat. Genet. , vol.17 , pp. 154-163
    • Chen, K.-S.1
  • 72
    • 0031945026 scopus 로고    scopus 로고
    • High level of unequal meiotic crossovers at the origin of the 22q11.2 and 7q11.23 deletions
    • (1998) Hum. Mol. Genet. , vol.7 , pp. 887-894
    • Baumer, A.1
  • 73
    • 0031025934 scopus 로고    scopus 로고
    • The second case of a t(17;22) in a family with neurofibromatosis type 1: Sequence analysis of the breakpoint regions
    • (1996) Hum. Genet. , vol.99 , pp. 237-247
    • Kehrer-Sawatzki, H.1
  • 74
    • 0008168301 scopus 로고
    • Clustering of DiGeorge/velocardiofacial-associated translocations suggestive of a translocation 'hotspot'
    • (1995) Am. J. Hum. Genet. (Suppl.) , vol.A119 , pp. 665
    • Li, M.1
  • 76
    • 0031946990 scopus 로고    scopus 로고
    • Molecular cytogenetic evidence for a common breakpoint in the largest inverted duplications of chromosome 15
    • (1998) Am. J. Hum. Genet. , vol.62 , pp. 925-936
    • Wandstrat, A.E.1
  • 77
    • 0031663725 scopus 로고    scopus 로고
    • Cat eye syndrome chromosome breakpoint clustering: Identification of two intervals also associated with 22q11 deletion syndrome breakpoints
    • (1998) Cytogenet. Cell Genet. , vol.81 , pp. 222-228
    • McTaggart, K.E.1
  • 78
    • 0029656085 scopus 로고    scopus 로고
    • Molecular definition of breakpoints associated with human Xq isochromosomes: Implications for mechanisms of formation
    • (1996) Am. J. Hum. Genet. , vol.58 , pp. 154-160
    • Wolff, D.J.1
  • 79
    • 7844234750 scopus 로고    scopus 로고
    • Large multi-chromosomal duplications encompass many members of the olfactory receptor gene family in the human genome
    • (1998) Hum. Mol. Genet. , vol.7 , pp. 2007-2020
    • Trask, B.J.1
  • 81
    • 0035500899 scopus 로고    scopus 로고
    • Recent duplication, domain accretion and the dynamic mutation of the human genome
    • (2001) Trends Genet. , vol.17 , pp. 661-669
    • Eichler, E.E.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.