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Volumn 14, Issue 11, 2004, Pages 2209-2220

Serial segmental duplications during primate evolution result in complex human genome architecture

Author keywords

[No Author keywords available]

Indexed keywords

ANIMAL CELL; ARTICLE; CHROMOSOME 17P; CHROMOSOME INVERSION; CHROMOSOME TRANSLOCATION 19; CHROMOSOME TRANSLOCATION 4; CONTROLLED STUDY; DNA TRANSPOSITION; EVOLUTION; FUSION GENE; GENE CONVERSION; GENE DUPLICATION; GENE EXPRESSION; GENE STRUCTURE; GENETIC RECOMBINATION; GENETIC VARIABILITY; GORILLA; HUMAN; HUMAN CELL; HUMAN GENOME; MAMMAL; NONHUMAN; NUCLEOTIDE REPEAT; PRIMATE; PRIORITY JOURNAL; RODENT; TRANSPOSON;

EID: 8744265059     PISSN: 10889051     EISSN: None     Source Type: Journal    
DOI: 10.1101/gr.2746604     Document Type: Article
Times cited : (98)

References (82)
  • 1
    • 0041878461 scopus 로고    scopus 로고
    • Enrichment of segmental duplications in regions of breaks of synteny between the human and mouse genomes suggest their involvement in evolutionary rearrangements
    • Armengol, L., Pujana, M.A., Cheung, J., Scherer, S.W., and Estivill, X. 2003. Enrichment of segmental duplications in regions of breaks of synteny between the human and mouse genomes suggest their involvement in evolutionary rearrangements. Hum. Mol. Genet. 12: 2201-2208.
    • (2003) Hum. Mol. Genet. , vol.12 , pp. 2201-2208
    • Armengol, L.1    Pujana, M.A.2    Cheung, J.3    Scherer, S.W.4    Estivill, X.5
  • 2
    • 0347382445 scopus 로고    scopus 로고
    • Shuffling of genes within low-copy repeats on 22q11 (LCR22) by Alu-mediated recombination events during evolution
    • Babcock, M., Pavlicek, A., Spiteri, E., Kashork, C.D., Ioshikhes, I., Shaffer, L.G., Jurka, J., and Morrow, B.E. 2003. Shuffling of genes within low-copy repeats on 22q11 (LCR22) by Alu-mediated recombination events during evolution. Genome Res. 13: 2519-2532.
    • (2003) Genome Res. , vol.13 , pp. 2519-2532
    • Babcock, M.1    Pavlicek, A.2    Spiteri, E.3    Kashork, C.D.4    Ioshikhes, I.5    Shaffer, L.G.6    Jurka, J.7    Morrow, B.E.8
  • 3
    • 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
  • 5
    • 0142059650 scopus 로고    scopus 로고
    • An Alu transposition model for the origin and expansion of human segmental duplications
    • Bailey, J.A., Liu, G., and Eichler, E.E. 2003. An Alu transposition model for the origin and expansion of human segmental duplications. Am. J. Hum. Genet. 73: 823-834.
    • (2003) Am. J. Hum. Genet. , vol.73 , pp. 823-834
    • Bailey, J.A.1    Liu, G.2    Eichler, E.E.3
  • 7
    • 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
  • 9
    • 0348230989 scopus 로고    scopus 로고
    • Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2
    • Bi, W., Park, S.-S., Shaw, C.J., Withers, M.A., Patel, P.I., and Lupski, J.R. 2003. Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2. Am. J. Hum. Genet. 73: 1302-1315.
    • (2003) Am. J. Hum. Genet. , vol.73 , pp. 1302-1315
    • Bi, W.1    Park, S.-S.2    Shaw, C.J.3    Withers, M.A.4    Patel, P.I.5    Lupski, J.R.6
  • 11
    • 0037108783 scopus 로고    scopus 로고
    • Divergence between samples of chimpanzee and human DNA sequences is 5%, counting indels
    • Britten, R.J. 2002. Divergence between samples of chimpanzee and human DNA sequences is 5%, counting indels. Proc. Natl. Acad. Sci. 99: 13633-13635.
    • (2002) Proc. Natl. Acad. Sci. , vol.99 , pp. 13633-13635
    • Britten, R.J.1
  • 12
    • 0345668476 scopus 로고    scopus 로고
    • Majority of divergence between closely related DNA samples is due to indels
    • Britten, R.J., Rowen, L., Williams, J., and Cameron, R.A. 2003. Majority of divergence between closely related DNA samples is due to indels. Proc. Natl. Acad. Sci., 100: 4661-4665.
    • (2003) Proc. Natl. Acad. Sci. , vol.100 , pp. 4661-4665
    • Britten, R.J.1    Rowen, L.2    Williams, J.3    Cameron, R.A.4
  • 13
    • 0344417087 scopus 로고    scopus 로고
    • Generation of a widespread Drosophila inversion by a transposable element
    • Caceres, M., Ranz, J.M., Barbadilla, A., Long, M., and Ruiz, A. 1999. Generation of a widespread Drosophila inversion by a transposable element. Science 285: 415-418.
    • (1999) Science , vol.285 , pp. 415-418
    • Caceres, M.1    Ranz, J.M.2    Barbadilla, A.3    Long, M.4    Ruiz, A.5
  • 14
    • 0032534878 scopus 로고    scopus 로고
    • An anchored framework BAC map of mouse chromosome 11 assembled using multiplex oligonucleotide hybridization
    • Cai, W.W., Reneker, J., Chow, C.-W., Vaishnav, M., and Bradley, A. 1998. An anchored framework BAC map of mouse chromosome 11 assembled using multiplex oligonucleotide hybridization. Genomics 54: 387-397.
    • (1998) Genomics , vol.54 , pp. 387-397
    • Cai, W.W.1    Reneker, J.2    Chow, C.-W.3    Vaishnav, M.4    Bradley, A.5
  • 15
    • 0027972378 scopus 로고
    • Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17
    • Chance, P.F., Abbas, N., Lensch, M.W., Pentao, L., Roa, B.B., Patel, P.I., and Lupski, J.R. 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
  • 16
    • 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, A.C., Lee, C.C., and Lupski, J.R. 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
  • 18
    • 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
  • 19
    • 0037348842 scopus 로고    scopus 로고
    • Segmental duplications in euchromatic regions of human chromosome 5: A source of evolutionary instability and transcriptional innovation
    • Courseaux, A., Richard, F., Grosgeorge, J., Ortola, C., Viale, A., Turc-Carel, C., Dutrillaux, B., Gaudray, P., and Nahon, J.-L. 2003. Segmental duplications in euchromatic regions of human chromosome 5: A source of evolutionary instability and transcriptional innovation. Genome Res. 13: 369-381.
    • (2003) Genome Res. , vol.13 , pp. 369-381
    • Courseaux, A.1    Richard, F.2    Grosgeorge, J.3    Ortola, C.4    Viale, A.5    Turc-Carel, C.6    Dutrillaux, B.7    Gaudray, P.8    Nahon, J.-L.9
  • 20
    • 0033035736 scopus 로고    scopus 로고
    • Mammalian Y chromosome evolution and the male-specific functions of Y chromosome-borne genes
    • Delbridge, M.L. and Graves, J.A.M. 1999. Mammalian Y chromosome evolution and the male-specific functions of Y chromosome-borne genes. Rev. Reprod. 4: 101-109.
    • (1999) Rev. Reprod. , vol.4 , pp. 101-109
    • Delbridge, M.L.1    Graves, J.A.M.2
  • 21
    • 0024371789 scopus 로고
    • A recombination hotspot in the LTR of a mouse retrotransposon identified in an in vitro system
    • Edelmann, W., Kroger, B., Goller, M., and Horak, I. 1989. A recombination hotspot in the LTR of a mouse retrotransposon identified in an in vitro system. Cell 57: 937-946.
    • (1989) Cell , vol.57 , pp. 937-946
    • Edelmann, W.1    Kroger, B.2    Goller, M.3    Horak, I.4
  • 22
    • 0035107772 scopus 로고    scopus 로고
    • Two functional copies of the DGCR6 gene are present on human chromosome 22q11 due to a duplication of an ancestral locus
    • Edelmann, L., Stankiewicz, P., Spiteri, E., Pandita, R.K., Shaffer, L., Lupski, J.R., and Morrow, B.E. 2001. Two functional copies of the DGCR6 gene are present on human chromosome 22q11 due to a duplication of an ancestral locus. Genome Res. 11: 208-217.
    • (2001) Genome Res. , vol.11 , pp. 208-217
    • Edelmann, L.1    Stankiewicz, P.2    Spiteri, E.3    Pandita, R.K.4    Shaffer, L.5    Lupski, J.R.6    Morrow, B.E.7
  • 24
    • 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
  • 25
    • 1942499458 scopus 로고    scopus 로고
    • An assessment of the sequence gaps: Unfinished business in a finished human genome
    • Eichler, E.E., Clark, R.A., and She, X. 2004. An assessment of the sequence gaps: unfinished business in a finished human genome. Nat. Rev. Genet. 5: 345-354.
    • (2004) Nat. Rev. Genet. , vol.5 , pp. 345-354
    • Eichler, E.E.1    Clark, R.A.2    She, X.3
  • 26
    • 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
  • 27
    • 0037351279 scopus 로고    scopus 로고
    • Genomic DNA insertions and deletions occur frequently between humans and nonhuman primates
    • Frazer, K.A., Chen, X., Hinds, D.A., Pant, P.V.K., Patil, N., and Cox, D.R. 2003. Genomic DNA insertions and deletions occur frequently between humans and nonhuman primates. Genome Res. 13: 341-346.
    • (2003) Genome Res. , vol.13 , pp. 341-346
    • Frazer, K.A.1    Chen, X.2    Hinds, D.A.3    Pant, P.V.K.4    Patil, N.5    Cox, D.R.6
  • 28
    • 3543082916 scopus 로고    scopus 로고
    • Segmental duplication associated with the human-specific inversion of chromosome 18: A further example of the impact of segmental duplications on karyotype and genome evolution in primates
    • Goidts, V., Szamalek, J.M., Hameister, H., Kehrer-Sawatzki, H. 2004. Segmental duplication associated with the human-specific inversion of chromosome 18: a further example of the impact of segmental duplications on karyotype and genome evolution in primates. Hum. Genet. 115: 116-122.
    • (2004) Hum. Genet. , vol.115 , pp. 116-122
    • Goidts, V.1    Szamalek, J.M.2    Hameister, H.3    Kehrer-Sawatzki, H.4
  • 29
    • 0034307716 scopus 로고    scopus 로고
    • It takes two transposons to tango: Transposable-element-mediated chromosomal rearrangements
    • Gray, Y.H.M. 2000. It takes two transposons to tango: Transposable-element-mediated chromosomal rearrangements. Trends Genet. 16: 461-468.
    • (2000) Trends Genet. , vol.16 , pp. 461-468
    • Gray, Y.H.M.1
  • 30
    • 0038046688 scopus 로고    scopus 로고
    • The human Y chromosome: Rumors of its death have been greatly exaggerated
    • Hawley, R.S. 2003. The human Y chromosome: Rumors of its death have been greatly exaggerated. Cell 113: 825-828.
    • (2003) Cell , vol.113 , pp. 825-828
    • Hawley, R.S.1
  • 33
    • 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, L.T., Lander, E.S., Devon, K.L., Wyman, D.W., Lupski, J.R., and 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
  • 34
    • 2042437650 scopus 로고    scopus 로고
    • Initial sequencing and analysis of the human genome
    • International Human Genome Sequencing Consortium
    • International Human Genome Sequencing Consortium. 2001. Initial sequencing and analysis of the human genome. Nature 409: 860-921.
    • (2001) Nature , vol.409 , pp. 860-921
  • 35
    • 0036071239 scopus 로고    scopus 로고
    • Molecular characterization of the pericentric inversion that causes differences between chimpanzee chromosome 19 and human chromosome 17
    • Kehrer-Sawatzki, H., Schreiner, B., Tanzer, S., Platzer, M., Muller, S., and Hameister, H. 2002. Molecular characterization of the pericentric inversion that causes differences between chimpanzee chromosome 19 and human chromosome 17. Am. J. Hum. Genet. 71: 375-388.
    • (2002) Am. J. Hum. Genet. , vol.71 , pp. 375-388
    • Kehrer-Sawatzki, H.1    Schreiner, B.2    Tanzer, S.3    Platzer, M.4    Muller, S.5    Hameister, H.6
  • 36
    • 0032784469 scopus 로고    scopus 로고
    • Molecular evolution of the CMT1A-REP region: A human- and chimpanzee-specific repeat
    • Keller, M.P., Seifried, B.A., and Chance, P.F. 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
  • 37
    • 0032192388 scopus 로고    scopus 로고
    • Genomic structure and physical mapping of C17orf1: A gene associated with the proximal element of the CMT1A-REP binary repeat
    • Kennerson, M.L., Nassif, N.T., and Nicholson, G.A. 1998. Genomic structure and physical mapping of C17orf1: A gene associated with the proximal element of the CMT1A-REP binary repeat. Genomics 53: 110-112.
    • (1998) Genomics , vol.53 , pp. 110-112
    • Kennerson, M.L.1    Nassif, N.T.2    Nicholson, G.A.3
  • 38
    • 0141815478 scopus 로고    scopus 로고
    • Evolution's cauldron: Duplication, deletion, and rearrangement in the mouse and human genomes
    • Kent, W.J., Baertsch, R., Hinrichs, A., Miller, W., and Haussler, D. 2003. Evolution's cauldron: Duplication, deletion, and rearrangement in the mouse and human genomes. Proc. Natl. Acad. Sci. 100: 11484-11489.
    • (2003) Proc. Natl. Acad. Sci. , vol.100 , pp. 11484-11489
    • Kent, W.J.1    Baertsch, R.2    Hinrichs, A.3    Miller, W.4    Haussler, D.5
  • 40
    • 0029999248 scopus 로고    scopus 로고
    • Primate origin of the CMT1A-REP repeat and analysis of a putative transposon-associated recombinational hotspot
    • Kiyosawa, H. and Chance, P.F. 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.F.2
  • 41
    • 0032580152 scopus 로고    scopus 로고
    • A molecular timescale for vertebrate evolution
    • Kumar, S. and Hedges, S.B. 1998. A molecular timescale for vertebrate evolution. Nature 392: 917-920.
    • (1998) Nature , vol.392 , pp. 917-920
    • Kumar, S.1    Hedges, S.B.2
  • 43
    • 0345460530 scopus 로고    scopus 로고
    • Molecular clocks
    • Sinauer Associates, Inc. Sunderland, MA
    • Li, W.-H. 1997. Molecular clocks. In Molecular evolution pp. 215-235. Sinauer Associates, Inc. Sunderland, MA.
    • (1997) Molecular Evolution , pp. 215-235
    • Li, W.-H.1
  • 44
    • 0028410524 scopus 로고
    • Gross chromosome rearrangements mediated by transposable elements in Drosophila melanogaster
    • Lim, J.K. and Simmons, M.J. 1994. Gross chromosome rearrangements mediated by transposable elements in Drosophila melanogaster. Bioessays 16: 269-275.
    • (1994) Bioessays , vol.16 , pp. 269-275
    • Lim, J.K.1    Simmons, M.J.2
  • 46
    • 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
  • 47
    • 0037315253 scopus 로고    scopus 로고
    • Genomic disorders: Recombination-based disease resulting from genome architecture
    • Lupski, J.R. 2003. Genomic disorders: Recombination-based disease resulting from genome architecture. Am. J. Hum. Genet. 72: 246-252.
    • (2003) Am. J. Hum. Genet. , vol.72 , pp. 246-252
    • Lupski, J.R.1
  • 48
    • 4744345428 scopus 로고    scopus 로고
    • Chromosomal rearrangements and the genomic distribution of gene-expression divergence in humans and chimpanzees
    • (in press)
    • Marquès-Bonet, T., Cáceres, M., Bertranpetit, J., Preuss, T.M., Thomas, J.W., and Navarro, A. 2004. Chromosomal rearrangements and the genomic distribution of gene-expression divergence in humans and chimpanzees. Trends in Genet. (in press).
    • (2004) Trends in Genet.
    • Marquès-Bonet, T.1    Cáceres, M.2    Bertranpetit, J.3    Preuss, T.M.4    Thomas, J.W.5    Navarro, A.6
  • 49
    • 0031570285 scopus 로고    scopus 로고
    • Genomic structure and expression of the human heme A: Farnesyltransferase (COX10) gene
    • Murakami, T., Reiter, L.T., and Lupski, J.R. 1997. Genomic structure and expression of the human heme A:farnesyltransferase (COX10) gene. Genomics 42: 161-164.
    • (1997) Genomics , vol.42 , pp. 161-164
    • Murakami, T.1    Reiter, L.T.2    Lupski, J.R.3
  • 50
    • 0012644151 scopus 로고    scopus 로고
    • Birth of 'human-specific' genes during primate evolution
    • Nahon, J.-L. 2003. Birth of 'human-specific' genes during primate evolution. Genetica 118: 193-208.
    • (2003) Genetica , vol.118 , pp. 193-208
    • Nahon, J.-L.1
  • 51
    • 0037432734 scopus 로고    scopus 로고
    • Chromosomal speciation and molecular divergence-accelerated evolution in rearranged chromosomes
    • Navarro, A. and Barton, N.H. 2003. Chromosomal speciation and molecular divergence-accelerated evolution in rearranged chromosomes. Science. 300: 321-324.
    • (2003) Science , vol.300 , pp. 321-324
    • Navarro, A.1    Barton, N.H.2
  • 52
    • 0004532670 scopus 로고    scopus 로고
    • Molecular definition of pericentric inversions distinguishing the genomes of humans and chimpanzees since divergence from a common ancestor
    • Ph.D. dissertation, Baylor College of Medicine, Houston, TX
    • Nickerson, E. 2000. Molecular definition of pericentric inversions distinguishing the genomes of humans and chimpanzees since divergence from a common ancestor. Ph.D. dissertation, Baylor College of Medicine, Houston, TX.
    • (2000)
    • Nickerson, E.1
  • 54
    • 0038354776 scopus 로고    scopus 로고
    • Insights from human/mouse genome comparisons
    • Pennacchio, L.A. 2003. Insights from human/mouse genome comparisons. Mamm. Genome 14: 429-436.
    • (2003) Mamm. Genome , vol.14 , pp. 429-436
    • Pennacchio, L.A.1
  • 55
    • 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, C.A., Chinault, A.C., Patel, P.I., and Lupski, J.R. 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
  • 56
    • 0038271921 scopus 로고    scopus 로고
    • Human and mouse genomic sequences reveal extensive breakpoint reuse in mammalian evolution
    • Pevzner, P. and Tesler, G. 2003. Human and mouse genomic sequences reveal extensive breakpoint reuse in mammalian evolution. Proc. Natl. Acad. Sci. 100: 7672-7677.
    • (2003) Proc. Natl. Acad. Sci. , vol.100 , pp. 7672-7677
    • Pevzner, P.1    Tesler, G.2
  • 58
    • 0033083080 scopus 로고    scopus 로고
    • A physical map of the mouse shaker-2 region contains many of the genes commonly deleted in Smith-Magenis syndrome (del17p11.2p11.2)
    • Probst, F.J., Chen, K.-S., Zhao, Q., Wang, A., Friedman, T.B., Lupski, J.R., and Camper, S.A. 1999. A physical map of the mouse shaker-2 region contains many of the genes commonly deleted in Smith-Magenis syndrome (del17p11.2p11.2). Genomics 55: 348-352.
    • (1999) Genomics , vol.55 , pp. 348-352
    • Probst, F.J.1    Chen, K.-S.2    Zhao, Q.3    Wang, A.4    Friedman, T.B.5    Lupski, J.R.6    Camper, S.A.7
  • 59
    • 0030871024 scopus 로고    scopus 로고
    • The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPs
    • Reiter, L.T., Murakami, T., Koeuth, T., Gibbs, R.A., and Lupski, J.R. 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
  • 60
    • 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
  • 61
    • 0035400605 scopus 로고    scopus 로고
    • Chromosomal rearrangements and speciation
    • Rieseberg, L.H. 2001. Chromosomal rearrangements and speciation. Trends Ecol. Evol. 16: 351-358.
    • (2001) Trends Ecol. Evol. , vol.16 , pp. 351-358
    • Rieseberg, L.H.1
  • 62
    • 0037432750 scopus 로고    scopus 로고
    • Chromosomal speciation in primates
    • Rieseberg, L.H. and Livingstone, K. 2003. Chromosomal speciation in primates. Science. 300: 267-268.
    • (2003) Science , vol.300 , pp. 267-268
    • Rieseberg, L.H.1    Livingstone, K.2
  • 64
    • 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
  • 65
    • 0031004203 scopus 로고    scopus 로고
    • Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH: Implications for testing in the cytogenetics laboratory
    • Shaffer, L.G., Kennedy, G.M., Spikes, A.S., and Lupski, J.R. 1997. Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH: Implications for testing in the cytogenetics laboratory. Am. J. Med. Genet. 69: 325-331.
    • (1997) Am. J. Med. Genet. , vol.69 , pp. 325-331
    • Shaffer, L.G.1    Kennedy, G.M.2    Spikes, A.S.3    Lupski, J.R.4
  • 66
    • 1842526843 scopus 로고    scopus 로고
    • Implications of human genome architecture for rearrangement based disorders: The genomic basis of disease
    • Shaw, C.J. and Lupski, J.R. 2004. Implications of human genome architecture for rearrangement based disorders: The genomic basis of disease. Hum. Mol. Genet. 13: R57-R64.
    • (2004) Hum. Mol. Genet. , vol.13
    • Shaw, C.J.1    Lupski, J.R.2
  • 67
    • 0036842833 scopus 로고    scopus 로고
    • Genetic proof of unequal meiotic crossovers in reciprocal deletion and duplication of 17p11.2
    • Shaw, C.J., Bi, W., and Lupski, J.R. 2002. Genetic proof of unequal meiotic crossovers in reciprocal deletion and duplication of 17p11.2. Am. J. Hum. Genet. 71: 1072-1081.
    • (2002) Am. J. Hum. Genet. , vol.71 , pp. 1072-1081
    • Shaw, C.J.1    Bi, W.2    Lupski, J.R.3
  • 68
    • 1242269840 scopus 로고    scopus 로고
    • Comparative genomic hybridisation using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disorders
    • Shaw, C.J., Shaw, C.A., Yu, W., Stankiewicz, P., White, L.D., Beaudet, A.L., and Lupski, J.R. 2004a. Comparative genomic hybridisation using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disorders. J. Med. Genet. 41: 113-119.
    • (2004) J. Med. Genet. , vol.41 , pp. 113-119
    • Shaw, C.J.1    Shaw, C.A.2    Yu, W.3    Stankiewicz, P.4    White, L.D.5    Beaudet, A.L.6    Lupski, J.R.7
  • 69
    • 3042641616 scopus 로고    scopus 로고
    • Uncommon Smith-Magenis syndrome deletions can be recurrent by utilizing alternate LCRs as homologous recombination substrates
    • Shaw, C.J., Withers, M.A., and Lupski, J.R. 2004b. Uncommon Smith-Magenis syndrome deletions can be recurrent by utilizing alternate LCRs as homologous recombination substrates. Am. J. Hum. Genet. 75: 75-81.
    • (2004) Am. J. Hum. Genet. , vol.75 , pp. 75-81
    • Shaw, C.J.1    Withers, M.A.2    Lupski, J.R.3
  • 70
    • 0036468807 scopus 로고    scopus 로고
    • Genome architecture, rearrangements and genomic disorders
    • Stankiewicz, P. and Lupski, J.R. 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
  • 71
    • 0036591666 scopus 로고    scopus 로고
    • Molecular-evolutionary mechanisms for genomic disorders
    • Stankiewicz, P. and Lupski, J.R. 2002b. Molecular-evolutionary mechanisms for genomic disorders. Curr. Opin. Genet. Dev. 12: 312-319.
    • (2002) Curr. Opin. Genet. Dev. , vol.12 , pp. 312-319
    • Stankiewicz, P.1    Lupski, J.R.2
  • 72
    • 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
  • 78
    • 0027154837 scopus 로고
    • Conservation and evolution of the rpsU-dnaG-rpoD macromolecular synthesis operon in bacteria
    • Versalovic, J., Koeuth, T., Britton, R., Geszvain, K., and Lupski, J.R. 1993. Conservation and evolution of the rpsU-dnaG-rpoD macromolecular synthesis operon in bacteria. Mol. Microbiol. 8: 343-355.
    • (1993) Mol. Microbiol. , vol.8 , pp. 343-355
    • Versalovic, J.1    Koeuth, T.2    Britton, R.3    Geszvain, K.4    Lupski, J.R.5
  • 79
    • 0028152065 scopus 로고
    • Bacterial genomes: Mapping and stability
    • Weinstock, G.M. 1994. Bacterial genomes: Mapping and stability. ASM News 60: 73-78.
    • (1994) ASM News , vol.60 , pp. 73-78
    • Weinstock, G.M.1
  • 80
    • 0037795310 scopus 로고    scopus 로고
    • Implications of natural selection in shaping 99.4% nonsynonymous DNA identity between humans and chimpanzees: Enlarging genus Homo
    • Wildman, D.E., Uddin, M., Liu, G., Grossman, L.I., and Goodman, M. 2003. Implications of natural selection in shaping 99.4% nonsynonymous DNA identity between humans and chimpanzees: Enlarging genus Homo. Proc. Natl. Acad. Sci. 100: 7181-7188.
    • (2003) Proc. Natl. Acad. Sci. , vol.100 , pp. 7181-7188
    • Wildman, D.E.1    Uddin, M.2    Liu, G.3    Grossman, L.I.4    Goodman, M.5
  • 81
    • 0032710552 scopus 로고    scopus 로고
    • Genome rearrangements by nonlinear transposons in maize
    • Zhang, J. and Peterson, T. 1999. Genome rearrangements by nonlinear transposons in maize. Genetics 153: 1403-1410.
    • (1999) Genetics , vol.153 , pp. 1403-1410
    • Zhang, J.1    Peterson, T.2
  • 82
    • 2442687870 scopus 로고    scopus 로고
    • Testing the chromosomal speciation hypothesis for humans and chimpanzees
    • Zhang, J., Wang, X., and Podlaha, O. 2004. Testing the chromosomal speciation hypothesis for humans and chimpanzees. Genome Res. 14: 845-851.
    • (2004) Genome Res. , vol.14 , pp. 845-851
    • Zhang, J.1    Wang, X.2    Podlaha, O.3


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