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PMID: 12596790 Published · ppublish English Address Lecture

2002 Curt Stern Award Address. Genomic disorders recombination-based disease resulting from genomic architecture.

American journal of human genetics ·Vol. 72 ·No. 2 ·2003-02-00 ·Pages 246-52

Lupski JR

Abstract

暂无摘要

MeSH Terms
Awards and Prizes Chromosome Breakage Evolution, Molecular Genetic Diseases, Inborn/genetics Genome, Human Humans Recombination, Genetic Repetitive Sequences, Nucleic Acid Societies, Scientific United States
Authors & Affiliations
1 authors, click to expand affiliations / ORCID
Lupski James R
Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, 77030, USA. jlupski@bcm.tmc.edu
References (30)
30 references, click to expand
  1. Separation of yeast chromosome-sized DNAs by pulsed field gradient gel electrophoresis.
    Cell. 1984 May;37(1):67-75 PMID: 6373014
  2. Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization.
    Proc Natl Acad Sci U S A. 1986 May;83(9):2934-8 PMID: 3458254
  3. Fluorescence in situ hybridization with human chromosome-specific libraries: detection of trisomy 21 and translocations of chromosome 4.
    Proc Natl Acad Sci U S A. 1988 Dec;85(23):9138-42 PMID: 2973607
  4. DNA duplication associated with Charcot-Marie-Tooth disease type 1A.
    Cell. 1991 Jul 26;66(2):219-32 PMID: 1677316
  5. Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2).
    Am J Hum Genet. 1991 Dec;49(6):1207-18 PMID: 1746552
  6. Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit.
    Nat Genet. 1992 Dec;2(4):292-300 PMID: 1303282
  7. Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17.
    Hum Mol Genet. 1994 Feb;3(2):223-8 PMID: 8004087
  8. Charcot-Marie-Tooth disease: a new paradigm for the mechanism of inherited disease.
    Trends Genet. 1994 Apr;10(4):128-33 PMID: 7518101
  9. A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element.
    Nat Genet. 1996 Mar;12(3):288-97 PMID: 8589720
  10. Molecular mechanisms for genomic disorders.
    Annu Rev Genomics Hum Genet. 2002;3:199-242 PMID: 12142364
  11. Recent segmental duplications in the human genome.
    Science. 2002 Aug 9;297(5583):1003-7 PMID: 12169732
  12. Chromosomal regions containing high-density and ambiguously mapped putative single nucleotide polymorphisms (SNPs) correlate with segmental duplications in the human genome.
    Hum Mol Genet. 2002 Aug 15;11(17):1987-95 PMID: 12165560
  13. Molecular-evolutionary mechanisms for genomic disorders.
    Curr Opin Genet Dev. 2002 Jun;12(3):312-9 PMID: 12076675
  14. Structure and evolution of the Smith-Magenis syndrome repeat gene clusters, SMS-REPs.
    Genome Res. 2002 May;12(5):729-38 PMID: 11997339
  15. Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse.
    Genome Res. 2002 May;12(5):713-28 PMID: 11997338
  16. A human genome diversity cell line panel.
    Science. 2002 Apr 12;296(5566):261-2 PMID: 11954565
  17. Segmental duplications and the evolution of the primate genome.
    Nat Rev Genet. 2002 Jan;3(1):65-72 PMID: 11823792
  18. Genome architecture, rearrangements and genomic disorders.
    Trends Genet. 2002 Feb;18(2):74-82 PMID: 11818139
  19. Segmental duplications: an 'expanding' role in genomic instability and disease.
    Nat Rev Genet. 2001 Oct;2(10):791-800 PMID: 11584295
  20. 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. 2001 Jul;11(7):1205-10 PMID: 11435402
  21. Primate origin of the CMT1A-REP repeat and analysis of a putative transposon-associated recombinational hotspot.
    Hum Mol Genet. 1996 Jun;5(6):745-53 PMID: 8776588
  22. 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. 2001 Jun;11(6):1018-33 PMID: 11381029
  23. Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion.
    Nat Genet. 2000 Jan;24(1):84-7 PMID: 10615134
  24. Molecular mechanisms for CMT1A duplication and HNPP deletion.
    Ann N Y Acad Sci. 1999 Sep 14;883:22-35 PMID: 10586226
  25. Molecular evolution of the CMT1A-REP region: a human- and chimpanzee-specific repeat.
    Mol Biol Evol. 1999 Aug;16(8):1019-26 PMID: 10474898
  26. DNA rearrangements on both homologues of chromosome 17 in a mildly delayed individual with a family history of autosomal dominant carpal tunnel syndrome.
    Am J Hum Genet. 1999 Feb;64(2):471-8 PMID: 9973284
  27. Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits.
    Trends Genet. 1998 Oct;14(10):417-22 PMID: 9820031
  28. Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome.
    Nat Genet. 1997 Oct;17(2):154-63 PMID: 9326934
  29. The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPs.
    Hum Mol Genet. 1997 Sep;6(9):1595-603 PMID: 9285799
  30. Genomic structure and expression of the human heme A:farnesyltransferase (COX10) gene.
    Genomics. 1997 May 15;42(1):161-4 PMID: 9177788
Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
Published
2003-02-00
Pages
246-52
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC379220
Subset
IM
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