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Volumn 13, Issue 3, 2003, Pages 369-381

Segmental duplications in euchromatic regions of human chromosome 5: A source of evolutionary instability and transcriptional innovation

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CENTROMERE; CHIMPANZEE; CHROMOSOME 5; CHROMOSOME 5P; CHROMOSOME 5Q; CHROMOSOME DUPLICATION; CHROMOSOME INSERTION; CHRONOLOGY; CONTROLLED STUDY; EUCHROMATIN; EVOLUTION; FLUORESCENCE IN SITU HYBRIDIZATION; GENE REARRANGEMENT; GENETIC STABILITY; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; GORILLA; HUMAN; HUMAN CHROMOSOME; MACACA; MOLECULAR MECHANICS; MOSAICISM; NONHUMAN; NUCLEOTIDE SEQUENCE; ORANG UTAN; PHYLOGENY; PRIORITY JOURNAL; PROMOTER REGION; SEQUENCE ANALYSIS; STRUCTURE ANALYSIS; TELOMERE; UNINDEXED SEQUENCE;

EID: 0037348842     PISSN: 10889051     EISSN: None     Source Type: Journal    
DOI: 10.1101/gr.490303     Document Type: Article
Times cited : (46)

References (61)
  • 1
    • 0034831138 scopus 로고    scopus 로고
    • Segmental duplications: Organization and impact within the current human genome project assembly
    • Bailey, J.A., Yavor, A.M., Massa, H.F., Trask, B.J., and Eichler, E.E. 2001. Segmental duplications: Organization and impact within the current human genome project assembly. Genome Res. 11: 1005-1017.
    • (2001) Genome Res. , vol.11 , pp. 1005-1017
    • Bailey, J.A.1    Yavor, A.M.2    Massa, H.F.3    Trask, B.J.4    Eichler, E.E.5
  • 4
    • 0032865868 scopus 로고    scopus 로고
    • RNAs from all categories generate retrosequences that may be exapted as novel genes or regulatory elements
    • Brosius, J. 1999a. RNAs from all categories generate retrosequences that may be exapted as novel genes or regulatory elements. Gene 238: 115-134.
    • (1999) Gene , vol.238 , pp. 115-134
    • Brosius, J.1
  • 5
    • 0033289533 scopus 로고    scopus 로고
    • Vertebrate genomes were forged by massive bombardments with retroelements and retrosequences
    • Brosius, J. 1999b. Vertebrate genomes were forged by massive bombardments with retroelements and retrosequences. Genetica 107: 209-238.
    • (1999) Genetica , vol.107 , pp. 209-238
    • Brosius, J.1
  • 6
    • 0030863569 scopus 로고    scopus 로고
    • When is a deletion not a deletion? When it is converted
    • Burghes, A.H. 1997. When is a deletion not a deletion? When it is converted. Am. J. Hum. Genet. 61: 9-15.
    • (1997) Am. J. Hum. Genet. , vol.61 , pp. 9-15
    • Burghes, A.H.1
  • 8
    • 0031026977 scopus 로고    scopus 로고
    • The gene encoding p44, a subunit of the transcription factor TFIIH, is involved in large-scale deletions associated with Werdnig-Hoffmann disease
    • Burglen, L., Seroz, T., Miniou, P., Lefebvre, S., Burlet, P., Munnich, A., Pequignot, E.V., Egly, J.M., and Melki, J. 1997. The gene encoding p44, a subunit of the transcription factor TFIIH, is involved in large-scale deletions associated with Werdnig-Hoffmann disease. Am. J. Hum. Genet. 60: 72-79.
    • (1997) Am. J. Hum. Genet. , vol.60 , pp. 72-79
    • Burglen, L.1    Seroz, T.2    Miniou, P.3    Lefebvre, S.4    Burlet, P.5    Munnich, A.6    Pequignot, E.V.7    Egly, J.M.8    Melki, J.9
  • 9
    • 0030818315 scopus 로고    scopus 로고
    • Genomic variation and gene conversion in spinal muscular atrophy: Implications for disease process and clinical phenotype
    • Campbell, L., Potter, A., Ignatius, J., Dubowitz, V., and Davies, K. 1997. Genomic variation and gene conversion in spinal muscular atrophy: Implications for disease process and clinical phenotype. Am. J. Hum. Genet. 61: 40-50.
    • (1997) Am. J. Hum. Genet. , vol.61 , pp. 40-50
    • Campbell, L.1    Potter, A.2    Ignatius, J.3    Dubowitz, V.4    Davies, K.5
  • 11
    • 0032971379 scopus 로고    scopus 로고
    • Large genomic duplicons map to sites of instability in the prader-willi/Angelman syndrome chromosome region (15q11-q13)
    • Christian, S.L., Fantes, J.A., Mewborn, S.K., Huang, B., and Ledbetter, D.H. 1999. Large genomic duplicons map to sites of instability in the prader-willi/Angelman syndrome chromosome region (15q11-q13). Hum. Mol. Genet. 8: 1025-1037.
    • (1999) Hum. Mol. Genet. , vol.8 , pp. 1025-1037
    • Christian, S.L.1    Fantes, J.A.2    Mewborn, S.K.3    Huang, B.4    Ledbetter, D.H.5
  • 12
    • 0035895567 scopus 로고    scopus 로고
    • Birth of two chimeric genes in the Hominidae lineage
    • Courseaux, A. and Nahon, J.L. 2001. Birth of two chimeric genes in the Hominidae lineage. Science 291: 1293-1297.
    • (2001) Science , vol.291 , pp. 1293-1297
    • Courseaux, A.1    Nahon, J.L.2
  • 13
    • 18244396646 scopus 로고    scopus 로고
    • Human paralogs of KIAA0187 were created through independent pericentromeric-directed and chromosome-specific duplication mechanisms
    • Crosier, M., Viggiano, L., Guy, J., Misceo, D., Stones, R., Wei, W., Hearn, T., Ventura, M., Archichacono, N., Rocchi, M., et al. 2002. Human paralogs of KIAA0187 were created through independent pericentromeric-directed and chromosome-specific duplication mechanisms. Genome Res. 12: 67-80.
    • (2002) Genome Res. , vol.12 , pp. 67-80
    • Crosier, M.1    Viggiano, L.2    Guy, J.3    Misceo, D.4    Stones, R.5    Wei, W.6    Hearn, T.7    Ventura, M.8    Archichacono, N.9    Rocchi, M.10
  • 14
    • 0018427309 scopus 로고
    • Chromosomal evolution in primates: Tentative phylogeny from Microcebus murinus (Prosimian) to man
    • Dutrillaux, B. 1979. Chromosomal evolution in primates: Tentative phylogeny from Microcebus murinus (Prosimian) to man. Hum. Genet. 48: 251-314.
    • (1979) Hum. Genet. , vol.48 , pp. 251-314
    • Dutrillaux, B.1
  • 15
    • 0015719021 scopus 로고
    • Analysis of the structure of chromatids of Gorilla gorilla. Comparison with Homo sapiens and Pan troglodytes
    • Dutrillaux, B., Rethore, M.O., Prieur, M., and Lejeune, J. 1973. Analysis of the structure of chromatids of Gorilla gorilla. Comparison with Homo sapiens and Pan troglodytes. Humangenetik 20: 343-354.
    • (1973) Humangenetik , vol.20 , pp. 343-354
    • Dutrillaux, B.1    Rethore, M.O.2    Prieur, M.3    Lejeune, J.4
  • 16
    • 0035500899 scopus 로고    scopus 로고
    • Recent duplication, domain accretion and the dynamic mutation of the human genome
    • Eichler, E.E. 2001. Recent duplication, domain accretion and the dynamic mutation of the human genome. Trends Genet. 17: 661-669.
    • (2001) Trends Genet. , vol.17 , pp. 661-669
    • Eichler, E.E.1
  • 17
    • 0032750691 scopus 로고    scopus 로고
    • CAGGG repeats and the pericentromeric duplication of the hominoid genome
    • Eichler, E.E., Archidiacono, N., and Rocchi, M. 1999. CAGGG repeats and the pericentromeric duplication of the hominoid genome. Genome Res. 9: 1048-1058.
    • (1999) Genome Res. , vol.9 , pp. 1048-1058
    • Eichler, E.E.1    Archidiacono, N.2    Rocchi, M.3
  • 18
    • 0035487212 scopus 로고    scopus 로고
    • Segmental duplications: An 'expanding' role in genomic instability and disease
    • Emanuel, B.S. and Shaikh, T.H. 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
  • 21
    • 0035081235 scopus 로고    scopus 로고
    • Gene duplication and the structure of eukaryotic genomes
    • Friedman R. and Hughes A.L. 2001a. Gene duplication and the structure of eukaryotic genomes. Genome Res. 11: 373-381.
    • (2001) Genome Res. , vol.11 , pp. 373-381
    • Friedman, R.1    Hughes, A.L.2
  • 22
    • 0035179702 scopus 로고    scopus 로고
    • Pattern and timing of gene duplication in animal genomes
    • Friedman R. and Hughes A.L. 2001b. Pattern and timing of gene duplication in animal genomes. Genome Res. 11: 1842-1847.
    • (2001) Genome Res. , vol.11 , pp. 1842-1847
    • Friedman, R.1    Hughes, A.L.2
  • 23
    • 0018263844 scopus 로고
    • Why genes in pieces?
    • Gilbert, W. 1978. Why genes in pieces? Nature 271: 501.
    • (1978) Nature , vol.271 , pp. 501
    • Gilbert, W.1
  • 24
    • 0033360816 scopus 로고    scopus 로고
    • The genomic record of Humankind's evolutionary roots
    • Goodman, M. 1999. The genomic record of Humankind's evolutionary roots. Am. J. Hum. Genet. 64: 31-39.
    • (1999) Am. J. Hum. Genet. , vol.64 , pp. 31-39
    • Goodman, M.1
  • 25
    • 0020402387 scopus 로고
    • Exaptation-a missing term in the science of form
    • Gould, S.J. and Vrba, E.S. 1982. Exaptation-a missing term in the science of form. Paleobiology 8: 4-15.
    • (1982) Paleobiology , vol.8 , pp. 4-15
    • Gould, S.J.1    Vrba, E.S.2
  • 27
    • 0035500619 scopus 로고    scopus 로고
    • Genome of the apes
    • Hacia, J.G. 2001. Genome of the apes. Trends Genet. 17: 637-645.
    • (2001) Trends Genet. , vol.17 , pp. 637-645
    • Hacia, J.G.1
  • 28
    • 0033916868 scopus 로고    scopus 로고
    • The mosaic structure of human pericentromeric DNA: A strategy for characterizing complex regions of the human genome
    • Horvath, J.E., Schwartz, S., and Eichler, E.E. 2000. The mosaic structure of human pericentromeric DNA: A strategy for characterizing complex regions of the human genome. Genome Res. 10: 839-852.
    • (2000) Genome Res. , vol.10 , pp. 839-852
    • Horvath, J.E.1    Schwartz, S.2    Eichler, E.E.3
  • 29
    • 0035475786 scopus 로고    scopus 로고
    • Lessons from the human genome: Transitions between euchromatin and heterochromatin
    • Horvath, J.E., Bailey, J.A., Locke, D.P., and Eichler, E.E. 2001. Lessons from the human genome: Transitions between euchromatin and heterochromatin. Hum. Mol. Genet. 10: 2215-2223.
    • (2001) Hum. Mol. Genet. , vol.10 , pp. 2215-2223
    • Horvath, J.E.1    Bailey, J.A.2    Locke, D.P.3    Eichler, E.E.4
  • 30
    • 0032928889 scopus 로고    scopus 로고
    • Sequences flanking the centromere of human chromosome 10 are a complex patchwork of arm-specific sequences, stable duplications and unstable sequences with homologies to telomeric and other centromeric locations
    • Jackson, M.S., Rocchi, M., Thompson, G., Hearn, T., Crosier, M., Guy, J., Kirk, D., Mulligan, L., Ricco, A., Piccininni, S., et al. 1999. Sequences flanking the centromere of human chromosome 10 are a complex patchwork of arm-specific sequences, stable duplications and unstable sequences with homologies to telomeric and other centromeric locations. Hum. Mol. Genet. 8: 205-215.
    • (1999) Hum. Mol. Genet. , vol.8 , pp. 205-215
    • Jackson, M.S.1    Rocchi, M.2    Thompson, G.3    Hearn, T.4    Crosier, M.5    Guy, J.6    Kirk, D.7    Mulligan, L.8    Ricco, A.9    Piccininni, S.10
  • 31
    • 0034028921 scopus 로고    scopus 로고
    • Structure of chromosomal duplicons and their role in mediating human genomic disorders
    • Ji, Y., Eichler, E.E., Schwartz, S., and Nicholls, R.D. 2000. Structure of chromosomal duplicons and their role in mediating human genomic disorders. Genome Res. 10: 597-610.
    • (2000) Genome Res. , vol.10 , pp. 597-610
    • Ji, Y.1    Eichler, E.E.2    Schwartz, S.3    Nicholls, R.D.4
  • 33
    • 0035105221 scopus 로고    scopus 로고
    • Perspective: Transposable elements, parasitic DNA, and genome evolution
    • Kidwell, M.G. and Lisch, D.R. 2001. Perspective: Transposable elements, parasitic DNA, and genome evolution. Evolution 55: 1-24.
    • (2001) Evolution , vol.55 , pp. 1-24
    • Kidwell, M.G.1    Lisch, D.R.2
  • 34
    • 0021770224 scopus 로고
    • Compilation and analysis of sequences upstream from the translational start site in eukaryotic mRNAs
    • Kozak, M. 1984. Compilation and analysis of sequences upstream from the translational start site in eukaryotic mRNAs. Nucleic Acids Res. 12: 857-872.
    • (1984) Nucleic Acids Res. , vol.12 , pp. 857-872
    • Kozak, M.1
  • 37
    • 0028812154 scopus 로고
    • Genes for SMA: Multum in parvo
    • Lewin, B. 1995. Genes for SMA: Multum in parvo. Cell 80: 1-5.
    • (1995) Cell , vol.80 , pp. 1-5
    • Lewin, B.1
  • 38
    • 0035504778 scopus 로고    scopus 로고
    • Transcriptional activity of multiple copies of a subtelomerically located olfactory receptor gene that is polymorphic in number and location
    • Linardopoulou, E., Mefford, H.C., Nguyen, O., Friedman, C., van den Engh, G., Farwell, D.G., Coltrera, M., and Trask, B.J. 2001. Transcriptional activity of multiple copies of a subtelomerically located olfactory receptor gene that is polymorphic in number and location. Hum. Mol. Genet. 10: 2373-2383.
    • (2001) Hum. Mol. Genet. , vol.10 , pp. 2373-2383
    • Linardopoulou, E.1    Mefford, H.C.2    Nguyen, O.3    Friedman, C.4    van den Engh, G.5    Farwell, D.G.6    Coltrera, M.7    Trask, B.J.8
  • 39
    • 0035546224 scopus 로고    scopus 로고
    • Evolution of novel genes
    • Long, M. 2001. Evolution of novel genes. Curr. Opin. Genet. Dev. 11: 673-680.
    • (2001) Curr. Opin. Genet. Dev. , vol.11 , pp. 673-680
    • Long, M.1
  • 40
    • 0031731487 scopus 로고    scopus 로고
    • Genomic disorders: Structural features of the genome can lead to DNA rearrangements and human disease traits
    • Lupski, J.R. 1998. Genomic disorders: Structural features of the genome can lead to DNA rearrangements and human disease traits. Trends Genet. 14: 417-422.
    • (1998) Trends Genet. , vol.14 , pp. 417-422
    • Lupski, J.R.1
  • 42
    • 0036613237 scopus 로고    scopus 로고
    • Extensive genomic duplication during early chordate evolution
    • McLysaght, A., Hokamp, K., and Wolfe, K.H. 2002. Extensive genomic duplication during early chordate evolution. Nat .Genet. 31: 200-204.
    • (2002) Nat .Genet. , vol.31 , pp. 200-204
    • McLysaght, A.1    Hokamp, K.2    Wolfe, K.H.3
  • 43
    • 0021357148 scopus 로고
    • Diagrammatic representation for chromosomal mutagenesis studies. II. Radiation-induced rearrangements in Macaca fascicularis
    • Muleris, M., Paravatou-Petsota, M., and Dutrillaux, B. 1984. Diagrammatic representation for chromosomal mutagenesis studies. II. Radiation-induced rearrangements in Macaca fascicularis. Mutat. Res. 126: 93-103.
    • (1984) Mutat. Res. , vol.126 , pp. 93-103
    • Muleris, M.1    Paravatou-Petsota, M.2    Dutrillaux, B.3
  • 45
    • 0012644151 scopus 로고    scopus 로고
    • Birth of "human-specific" genes during primate evolution
    • (in press)
    • Nahon, J.L. 2003. Birth of "human-specific" genes during primate evolution. Genetica (in press).
    • (2003) Genetica
    • Nahon, J.L.1
  • 46
    • 0032885169 scopus 로고    scopus 로고
    • Genome evolution and the evolution of exon-shuffling-a review
    • Patthy, L. 1999. Genome evolution and the evolution of exon-shuffling-a review. Gene 238: 103-114.
    • (1999) Gene , vol.238 , pp. 103-114
    • Patthy, L.1
  • 48
    • 0031022190 scopus 로고    scopus 로고
    • Emergence and scattering of multiple neurofibromatosis (NF1)-related sequences during hominoid evolution suggest a process of pericentromeric interchromosomal transposition
    • Regnier, V., Meddeb, M., Lecointre, G., Richard, F., Duverger, A., Nguyen, V.C., Dutrillaux, B., Bernheim, A., and Danglot, G. 1997. Emergence and scattering of multiple neurofibromatosis (NF1)-related sequences during hominoid evolution suggest a process of pericentromeric interchromosomal transposition Hum. Mol. Genet. 6: 9-16.
    • (1997) Hum. Mol. Genet. , vol.6 , pp. 9-16
    • Regnier, V.1    Meddeb, M.2    Lecointre, G.3    Richard, F.4    Duverger, A.5    Nguyen, V.C.6    Dutrillaux, B.7    Bernheim, A.8    Danglot, G.9
  • 49
    • 0030587456 scopus 로고    scopus 로고
    • ZOO-FISH suggests a complete homology between human and capuchin monkey (Platyrrhini) euchromatin
    • Richard, F., Lombard, M., and Dutrillaux, B. 1996. ZOO-FISH suggests a complete homology between human and capuchin monkey (Platyrrhini) euchromatin. Genomics 36: 417-423.
    • (1996) Genomics , vol.36 , pp. 417-423
    • Richard, F.1    Lombard, M.2    Dutrillaux, B.3
  • 51
    • 0036245495 scopus 로고    scopus 로고
    • Segmental duplications and the evolution of the primate genome
    • Samonte, R.V. and Eichler, E.E. 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
  • 52
    • 0028674996 scopus 로고
    • A rearrangement on chromosome 5 of an expressed human β-glucuronidase pseudogene
    • Sargent, C.A., Chalmers, I.J., Leversha, M., and Affara, N.A. 1994. A rearrangement on chromosome 5 of an expressed human β-glucuronidase pseudogene. Mamm. Genome 5: 791-796.
    • (1994) Mamm. Genome , vol.5 , pp. 791-796
    • Sargent, C.A.1    Chalmers, I.J.2    Leversha, M.3    Affara, N.A.4
  • 54
    • 0029003447 scopus 로고
    • Expressed cadherin pseudogenes are localized to the critical region of the spinal muscular atrophy gene
    • Selig, S., Bruno, S., Scharf, J.M., Wang, C.H., Vitale, E., Gilliam, T.C., and Kunkel, L.M. 1995. Expressed cadherin pseudogenes are localized to the critical region of the spinal muscular atrophy gene. Proc. Natl. Acad. Sci. 92: 3702-3706.
    • (1995) Proc. Natl. Acad. Sci. , vol.92 , pp. 3702-3706
    • Selig, S.1    Bruno, S.2    Scharf, J.M.3    Wang, C.H.4    Vitale, E.5    Gilliam, T.C.6    Kunkel, L.M.7
  • 55
    • 0030938090 scopus 로고    scopus 로고
    • Molecular characterization of Br-cadherin, a developmentally regulated, brain-specific cadherin
    • Selig, S., Lidov, H.G., Bruno, S.A., Segal, M.M,. and Kunkel, L.M. 1997. Molecular characterization of Br-cadherin, a developmentally regulated, brain-specific cadherin. Proc. Natl. Acad. Sci. 94: 2398-2403.
    • (1997) Proc. Natl. Acad. Sci. , vol.94 , pp. 2398-2403
    • Selig, S.1    Lidov, H.G.2    Bruno, S.A.3    Segal, M.M.4    Kunkel, L.M.5
  • 57
    • 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, S.S., Inoue, K. and Lupski, J.R. 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
  • 59
    • 0031935103 scopus 로고    scopus 로고
    • Emergence of a brain-expressed variant melanin-concentrating hormone gene during higher primate evolution: A gene "in search of a function"
    • Viale, A., Ortola, C., Richard, F., Vernier, P., Presse, F., Schilling, S., Dutrillaux, B., and Nahon, J.L. 1998. Emergence of a brain-expressed variant melanin-concentrating hormone gene during higher primate evolution: A gene "in search of a function". Mol. Biol. Evol. 15: 196-214.
    • (1998) Mol. Biol. Evol. , vol.15 , pp. 196-214
    • Viale, A.1    Ortola, C.2    Richard, F.3    Vernier, P.4    Presse, F.5    Schilling, S.6    Dutrillaux, B.7    Nahon, J.L.8
  • 60
    • 0033735945 scopus 로고    scopus 로고
    • Structure and expression of the variant melanin-concentrating hormone genes: Only PMCHL1 is transcribed in the developing human brain and encodes a putative protein
    • Viale, A., Courseaux, A., Presse, F., Ortola, C., Breton, C., Jordan, D., and Nahon, J.L. 2000. Structure and expression of the variant melanin-concentrating hormone genes: Only PMCHL1 is transcribed in the developing human brain and encodes a putative protein. Mol. Biol. Evol. 17: 1626-1640.
    • (2000) Mol. Biol. Evol. , vol.17 , pp. 1626-1640
    • Viale, A.1    Courseaux, A.2    Presse, F.3    Ortola, C.4    Breton, C.5    Jordan, D.6    Nahon, J.L.7
  • 61
    • 0020027910 scopus 로고
    • The origin of man: A chromosomal pictorial legacy
    • Yunis, J.J. and Prakash, O. 1982. The origin of man: A chromosomal pictorial legacy. Science 215: 1525-1530.
    • (1982) Science , vol.215 , pp. 1525-1530
    • Yunis, J.J.1    Prakash, O.2


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