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Volumn 72, Issue 2, 2003, Pages 246-252

Genomic disorders: Recombination-based disease resulting from genome architecture

Author keywords

[No Author keywords available]

Indexed keywords

CONFERENCE PAPER; GENE STRUCTURE; GENETIC DISORDER; GENETIC RECOMBINATION; HUMAN; HUMAN GENOME; MEDICAL RESEARCH; PRIORITY JOURNAL; ARTICLE; AWARDS AND PRIZES; CHROMOSOME BREAKAGE; GENETICS; GENOME; HEALTH CARE ORGANIZATION; MOLECULAR EVOLUTION; NUCLEOTIDE REPEAT; UNITED STATES;

EID: 0037315253     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/346217     Document Type: Conference Paper
Times cited : (44)

References (30)
  • 5
    • 0027972378 scopus 로고
    • Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17
    • Chance PF, Abbas N, Lensch MW, Pentao L, Roa BB, Patel PI, Lupski JR (1994) Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17. Hum Mol Genet 3:223-228
    • (1994) Hum Mol Genet , vol.3 , pp. 223-228
    • Chance, P.F.1    Abbas, N.2    Lensch, M.W.3    Pentao, L.4    Roa, B.B.5    Patel, P.I.6    Lupski, J.R.7
  • 6
    • 0030881588 scopus 로고    scopus 로고
    • Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome
    • Chen K-S, Manian P, Koeuth T, Potocki L, Zhao Q, Chinault AC, Lee CC, Lupski JR (1997) Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome. Nat Genet 17:154-163
    • (1997) Nat Genet , vol.17 , pp. 154-163
    • Chen, K.-S.1    Manian, P.2    Koeuth, T.3    Potocki, L.4    Zhao, Q.5    Chinault, A.C.6    Lee, C.C.7    Lupski, J.R.8
  • 7
    • 0035487212 scopus 로고    scopus 로고
    • Segmental duplications: An "expanding" role in genomic instability and disease
    • Emanuel BS, Shaikh TH (2001) Segmental duplications: an "expanding" role in genomic instability and disease. Nat Rev Genet 2:791-800
    • (2001) Nat Rev Genet , vol.2 , pp. 791-800
    • Emanuel, B.S.1    Shaikh, T.H.2
  • 8
    • 0037101840 scopus 로고    scopus 로고
    • Chromosomal regions containing high-density and ambiguously mapped putative single nucleotide polymorphisms (SNPs) correlate with segmental duplications in the human genome
    • Estivill X, Cheung J, Pujana MA, Nakabayashi K, Scherer SW, Tsui LC (2002) Chromosomal regions containing high-density and ambiguously mapped putative single nucleotide polymorphisms (SNPs) correlate with segmental duplications in the human genome. Hum Mol Genet 11:1987-1995
    • (2002) Hum Mol Genet , vol.11 , pp. 1987-1995
    • Estivill, X.1    Cheung, J.2    Pujana, M.A.3    Nakabayashi, K.4    Scherer, S.W.5    Tsui, L.C.6
  • 10
    • 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
    • Inoue K, Dewar K, Katsanis N, Reiter LT, Lander ES, Devon KL, Wyman DW, Lupski JR, Birren B (2001) 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. Genome Res 11:1018-1033
    • (2001) Genome Res , vol.11 , pp. 1018-1033
    • Inoue, K.1    Dewar, K.2    Katsanis, N.3    Reiter, L.T.4    Lander, E.S.5    Devon, K.L.6    Wyman, D.W.7    Lupski, J.R.8    Birren, B.9
  • 12
    • 0032784469 scopus 로고    scopus 로고
    • Molecular evolution of the CMT1A-REP region: A human- and chimpanzee-specific repeat
    • Keller MP, Seifried BA, Chance PF (1999) Molecular evolution of the CMT1A-REP region: a human- and chimpanzee-specific repeat. Mol Biol Evol 16:1019-1026
    • (1999) Mol Biol Evol , vol.16 , pp. 1019-1026
    • Keller, M.P.1    Seifried, B.A.2    Chance, P.F.3
  • 13
    • 0029999248 scopus 로고    scopus 로고
    • Primate origin of the CMT1A-REP repeat and analysis of a putative transposon-associated recombinational hotspot
    • Kiyosawa H, Chance P (1996) Primate origin of the CMT1A-REP repeat and analysis of a putative transposon-associated recombinational hotspot. Hum Mol Genet 5:745-753
    • (1996) Hum Mol Genet , vol.5 , pp. 745-753
    • Kiyosawa, H.1    Chance, P.2
  • 14
    • 0031731487 scopus 로고    scopus 로고
    • Genomic disorders: Structural features of the genome can lead to DNA rearrangements and human disease traits
    • Lupski JR (1998) Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits. Trends Genet 14:417-420
    • (1998) Trends Genet , vol.14 , pp. 417-420
    • Lupski, J.R.1
  • 16
    • 0031570285 scopus 로고    scopus 로고
    • Genomic structure and expression of the human heme A:farnesyltransferase (COX10) gene
    • Murakami T, Reiter LT, Lupski JR (1997) Genomic structure and expression of the human heme A:farnesyltransferase (COX10) gene. Genomics 42:161-184
    • (1997) Genomics , vol.42 , pp. 161-184
    • Murakami, T.1    Reiter, L.T.2    Lupski, J.R.3
  • 18
    • 0028231331 scopus 로고
    • Charcot-Marie-Tooth disease: A new paradigm for the mechanism of inherited disease
    • Patel PI, Lupski JR (1994) Charcot-Marie-Tooth disease: a new paradigm for the mechanism of inherited disease. Trends Genet 10:128-133
    • (1994) Trends Genet , vol.10 , pp. 128-133
    • Patel, P.I.1    Lupski, J.R.2
  • 19
    • 0027017033 scopus 로고
    • Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit
    • Pentao L, Wise CA, Chinault AC, Patel PI, Lupski JR (1992) Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit. Nat Genet 2:292-300
    • (1992) Nat Genet , vol.2 , pp. 292-300
    • Pentao, L.1    Wise, C.A.2    Chinault, A.C.3    Patel, P.I.4    Lupski, J.R.5
  • 20
    • 0343319476 scopus 로고
    • Fluorescence in situ hybridization with human chromosome-specific libraries: Detection of trisomy 21 and translocations of chromosome 4
    • Pinkel D, Landegent J, Collins C, Fuscoe J, Segraves R, Lucas J, Gray J (1988) Fluorescence in situ hybridization with human chromosome-specific libraries: detection of trisomy 21 and translocations of chromosome 4. Proc Natl Acad Sci USA 85:9138-9142
    • (1988) Proc Natl Acad Sci USA , vol.85 , pp. 9138-9142
    • Pinkel, D.1    Landegent, J.2    Collins, C.3    Fuscoe, J.4    Segraves, R.5    Lucas, J.6    Gray, J.7
  • 21
    • 0022446922 scopus 로고
    • Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization
    • Pinkel D, Straume T, Gray JW (1986) Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization. Proc Natl Acad Sci USA 83:2934-2938
    • (1986) Proc Natl Acad Sci USA , vol.83 , pp. 2934-2938
    • Pinkel, D.1    Straume, T.2    Gray, J.W.3
  • 24
    • 0030871024 scopus 로고    scopus 로고
    • The human COX10 gene is disrupted during homologous recombination between the 24 KB proximal and distal CMT1A-REPs
    • Reiter LT, Murakami T, Koeuth T, Gibbs RA, Lupski JR (1997) The human COX10 gene is disrupted during homologous recombination between the 24 KB proximal and distal CMT1A-REPs. Hum Mol Genet 6:1595-1603
    • (1997) Hum Mol Genet , vol.6 , pp. 1595-1603
    • Reiter, L.T.1    Murakami, T.2    Koeuth, T.3    Gibbs, R.A.4    Lupski, J.R.5
  • 25
    • 0029962292 scopus 로고    scopus 로고
    • A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element
    • correction: Nat Genet 19:303
    • Reiter LT, Murakami T, Koeuth T, Pentao L, Muzny D, Gibbs RA, Lupski JR (1996) A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element. Nat Genet 12:288-297 (correction: Nat Genet 19:303)
    • (1996) Nat Genet , vol.12 , pp. 288-297
    • Reiter, L.T.1    Murakami, T.2    Koeuth, T.3    Pentao, L.4    Muzny, D.5    Gibbs, R.A.6    Lupski, J.R.7
  • 26
    • 0036245495 scopus 로고    scopus 로고
    • Segmental duplications and the evolution of the primate genome
    • Samonte RV, Eichler EE (2002) Segmental duplications and the evolution of the primate genome. Nat Rev Genet 3:65-72
    • (2002) Nat Rev Genet , vol.3 , pp. 65-72
    • Samonte, R.V.1    Eichler, E.E.2
  • 27
    • 0021153574 scopus 로고
    • Separation of yeast chromosome-sized DNAs by pulsed field gradient gel electrophoresis
    • Schwartz DC, Cantor CR (1984) Separation of yeast chromosome-sized DNAs by pulsed field gradient gel electrophoresis. Cell 37:67-75
    • (1984) Cell , vol.37 , pp. 67-75
    • Schwartz, D.C.1    Cantor, C.R.2
  • 28
    • 0036468807 scopus 로고    scopus 로고
    • Genome architecture, rearrangements and genomic disorders
    • Stankiewicz P, Lupski JR (2002a) Genome architecture, rearrangements and genomic disorders. Trends Genet 18:74-82
    • (2002) Trends Genet , vol.18 , pp. 74-82
    • Stankiewicz, P.1    Lupski, J.R.2
  • 29
    • 0036591666 scopus 로고    scopus 로고
    • Molecular-evolutionary mechanisms for genomic disorders
    • _ (2002b) Molecular-evolutionary mechanisms for genomic disorders. Curr Opin Genet Dev 12:312-319
    • (2002) Curr Opin Genet Dev , vol.12 , pp. 312-319
  • 30
    • 0034924052 scopus 로고    scopus 로고
    • The evolutionary chromosome translocation 4;19 in Gorilla gorilla is associated with microduplication of the chromosome fragment syntenic to sequences surrounding the human proximal CMT1A-REP
    • Stankiewicz P, Park SS, Inoue K, Lupski JR (2001) The evolutionary chromosome translocation 4;19 in Gorilla gorilla is associated with microduplication of the chromosome fragment syntenic to sequences surrounding the human proximal CMT1A-REP. Genome Res 11:1205-1210
    • (2001) Genome Res , vol.11 , pp. 1205-1210
    • Stankiewicz, P.1    Park, S.S.2    Inoue, K.3    Lupski, J.R.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.