Segmental Duplications in the Human Genome

Molecular Biology

Volumn 37, Issue 2, 2003, Pages 186-193

  Lacroix, M H ^a   Oparina, N Yu ^a   Mashkova, T D ^a  

^a ENGELHARDT INSTITUTE OF MOLECULAR BIOLOGY   (Russian Federation)

Author keywords

Chromosome rearrangements; Hereditary disorders; Human genome; in silico analysis; Pericentric and subtelomeric regions; Recombination

Indexed keywords

EXTRACHROMOSOMAL DNA;

CENTROMERE; CHROMOSOME; CHROMOSOME 16P; CHROMOSOME 2Q; CHROMOSOME 4Q; CHROMOSOME 7Q; CHROMOSOME REARRANGEMENT; CHROMOSOME XQ; DIGEORGE SYNDROME; EMERY DREIFUSS MUSCULAR DYSTROPHY; EVOLUTION; EXON; GC RICH SEQUENCE; GENE CLUSTER; GENE DELETION; GENE DUPLICATION; GENE FUNCTION; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENE STRUCTURE; GENETIC ANALYSIS; GENETIC DISORDER; GENETIC STABILITY; GENETIC TRANSCRIPTION; GENOME; HAPPY PUPPET SYNDROME; HEMOPHILIA A; HEREDITARY MOTOR SENSORY NEUROPATHY; HOMOLOGOUS RECOMBINATION; HUMAN; HUNTER SYNDROME; ICHTHYOSIS; NEPHRONOPHTHISIS; NEUROFIBROMATOSIS; NONHUMAN; PARALOGY; PRADER WILLI SYNDROME; REVIEW; SEQUENCE HOMOLOGY; SMITH MAGENIS SYNDROME; SPINAL MUSCULAR ATROPHY; TANDEM REPEAT; TELOMERE; WILLIAMS BEUREN SYNDROME;

EID: 0037278420     PISSN: 00268933     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1023333302552     Document Type: Review

References (36)

1. IHGSC (International Human Genome Sequencing Consortium). 2001. Initial sequencing and analysis of the human genome. Nature. 409, 860-921.
2. Bailey J.A., Yavor A.M., Massa H.F. et al. 2001. Segmental duplications: organization and impact within the current human genome project assembly. Genome Res. 11, 1005-1017.
3. Venter J.C., Adams M.D., Myers E.W. et al. 2001. The sequence of the human genome. Science. 291, 1304-1351.
4. Bailey J.A., Gu Z., Clark R.A. et al. 2002. Recent segmental duplications in the human genome. Science. 297, 1003-1007.
5. Eichler E.E. 2001. Recent duplication, domain accretion and the dynamic mutation of the human genome. Trends Genet. 17, 661-669.
6. Horvath J.E., Bailey J.A., Locke D.P., Eichler E.E. 2001. Lessons from the human genome: transitions between euchromatin and heterochromatin. Hum. Mol. Genet. 10, 2215-2223.
7. Samonte R.V., Eichler E.E. 2002. Segmental duplications and the evolution of the primate genome. Nature Rev. Genet. 3, 65-72.
8. Cheung V.G., Nowak N., Jang W. et al. 2001. Integration of cytogenetic landmarks into the draft sequence of the human genome. Nature. 409, 953-958.
9. Lee C., Wevrick R., Fisher R.B. et al. 1997. Human centromeric DNAs. Hum. Genet. 100, 291-304.
10. Mefford H.C., Trask B.J. 2002. The complex structure and dynamic evolution of human subtelomeres. Nature Rev. Genet. 3, 91-102.
11. Collins F.S., Patrinos A., Jordan E. et al. 1998. New goals for the U.S. Human genome project: 1998-2003. Science. 282, 682-689.
12. Jackson M.S., Rocchi M., Thompson G. 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.
13. Caron H., van Schaik B., van der Mee H. et al. 2001. The human transcriptone map: clustering of highly expressed genes in chromosomal domains. Science. 291, 1289-1292.
14. Regnier V., Meddeb M., Lecointre G. et al. 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.
15. Guy J., Spalluto C., McMurray A. et al. 2000. Genomic sequence and transcriptional profile of the boundary between pericentromeric satellites and genes on human chromosome 10q. Hum. Mol. Genet. 9, 2029-2042.
16. Bailey J.A., Yavor A.M., Viggiano L. et al. 2002. Human-specific duplication and mosaic transcripts: the recent paralogous structure of chromosome 22. Am. J. Hum. Genet. 70, 83-100.
17. Eichler E.E., Budarf M.L., Rocchi M. et al. 1997. Interchromosomal duplications of the adrenoleukodystrophy locus: a phenomenon of pericentromeric plasticity. Hum. Mol. Genet. 6, 991-1002.
18. Hattori M., Fujiyama A., Taylor T.D. et al. 2000. The DNA sequence of human chromosome 21. Nature. 405, 311-339.
19. Crosier M., Viggiano L., Guy J. et al. 2002. Human paralogs of KIAA0187 were created through independent pericentromeric-directed and chromosome-specific duplication mechanisms. Genome Res. 12, 67-80.
20. Horvath I.E., Viggiano L., Loftus B.J. et al. 2000. Molecular structure and evolution of an alpha satellite/non-alpha satellite junction at 16p11. Hum. Mol. Genet. 9, 113-123.
21. Mashkova T.D., Oparina N.Y., Lacroix M.R. et al. 2001. Structural rearrangements and insertions of dispersed elements in pericentromeric alpha satellites occur preferably at kinkable DNA sites. J. Mol. Biol. 305, 33-48.
22. Eichler E.E., Archidiacono N., Rocchi M. 1999. CAGGG repeats and the pericentromeric duplication of the hominoid genome. Genome Res. 9, 1048-1058.
23. Horvath J.E., Schwartz S., 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.
24. Courseaux A., Nahon J.L. 2001. Birth of two chimeric genes in the Hominidae lineage. Science. 291, 1293-1297.
25. Footz T.K., Brinkman-Mills P., Banting G.S. et al. 2001. Analysis of the Cat Eye syndrome critical region in humans and the region of conserved synteny in mice: a search for candidate genes at or near the human chromosome 22 pericentromere. Genome Res. 11, 1053-1070.
26. Edelmann L., Stankiewicz P., Spiteri E. et al. 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.
27. van Geel M., Eichler E.E., Beck A.F. et al. 2002. A cascade of complex subtelomeric duplications during the evolution of the hominoid and Old World monkey genomes. Am. J. Hum. Genet. 70, 269-278.
28. Ji Y., Eichler E.E., Schwartz S., Nicholls R.D. 2000. Structure of chromosomal duplicons and their role in mediating human genomic disorders. Genome Res. 10, 597-610.
29. Emanuel B.S., Shaikh T.H. 2001. Segmental duplications: an 'expanding' role in genomic instability and disease. Nature Rev. Genet. 2, 791-800.
30. Stankiewicz P., Lupski J.R. 2002. Genome architecture, rearrangements and genomic disorders. Trends Genet. 18, 74-82.
31. Chen K.S., Manian P., Koeuth T. et al. 1997. Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome. Nature Genet. 17, 154-163.
32. Reiter L.T., Murakami T., Koeuth T. et al. 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.
33. Lopez-Correa C., Dorschner M., Brems H. et al. 2001. Recombination hotspot in NF1 microdeletion patients. Hum. Mol. Genet. 10, 1387-1392.
34. Amos-Landgraf J.M., Ji Y., Gottlieb W. et al. 1999. Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints. Am. J. Hum. Genet. 65, 370-386.
35. Shaikh T.H., Kurahashi H., Saitta S.C. et al. 2000. Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis. Hum. Mol. Genet. 9, 489-501.
36. Edelmann L., Pandita R.K., Morrow B.E. 1999. Low-copy repeats mediate the common 3-Mb deletion in patients with Velo-cardio-facial syndrome. Am. J. Hum. Genet. 64, 1076-1086.