Literature DB >> 11584295

Segmental duplications: an 'expanding' role in genomic instability and disease.

B S Emanuel1, T H Shaikh.   

Abstract

The knowledge that specific genetic diseases are caused by recurrent chromosomal aberrations has indicated that genomic instability might be directly related to the structure of the regions involved. The sequencing of the human genome has directed significant attention towards understanding the molecular basis of such recombination 'hot spots'. Segmental duplications have emerged as a significant factor in the aetiology of disorders that are caused by abnormal gene dosage. These observations bring us closer to understanding the mechanisms and consequences of genomic rearrangement.

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Year:  2001        PMID： 11584295     DOI： 10.1038/35093500

Source DB:  PubMed          Journal:  Nat Rev Genet        ISSN： 1471-0056            Impact factor:   53.242


  94 in total

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

Authors:  Anouk Courseaux; Florence Richard; Josiane Grosgeorge; Christine Ortola; Agnes Viale; Claude Turc-Carel; Bernard Dutrillaux; Patrick Gaudray; Jean-Louis Nahon
Journal:  Genome Res       Date:  2003-03       Impact factor: 9.043

2.  2002 Curt Stern Award Address. Genomic disorders recombination-based disease resulting from genomic architecture.

Authors:  James R Lupski
Journal:  Am J Hum Genet       Date:  2003-02       Impact factor: 11.025

3.  Structural analysis of the maize rp1 complex reveals numerous sites and unexpected mechanisms of local rearrangement.

Authors:  Wusirika Ramakrishna; John Emberton; Matthew Ogden; Phillip SanMiguel; Jeffrey L Bennetzen
Journal:  Plant Cell       Date:  2002-12       Impact factor: 11.277

4.  Translocation breakpoint mapping and sequence analysis in three monosomy 1p36 subjects with der(1)t(1;1)(p36;q44) suggest mechanisms for telomere capture in stabilizing de novo terminal rearrangements.

Authors:  Blake C Ballif; Keiko Wakui; Marzena Gajecka; Lisa G Shaffer
Journal:  Hum Genet       Date:  2003-10-25       Impact factor: 4.132

5.  2002 Curt Stern Award address. Introductory speech for James R. Lupski.

Authors:  Robert D Nicholls
Journal:  Am J Hum Genet       Date:  2003-02       Impact factor: 11.025

6.  Complex evolution of 7E olfactory receptor genes in segmental duplications.

Authors:  Tera Newman; Barbara J Trask
Journal:  Genome Res       Date:  2003-05       Impact factor: 9.043

7.  Genome architecture catalyzes nonrecurrent chromosomal rearrangements.

Authors:  Paweł Stankiewicz; Christine J Shaw; Jason D Dapper; Keiko Wakui; Lisa G Shaffer; Marjorie Withers; Leah Elizondo; Sung-Sup Park; James R Lupski
Journal:  Am J Hum Genet       Date:  2003-03-20       Impact factor: 11.025

8.  Expansion and contraction of the DUP240 multigene family in Saccharomyces cerevisiae populations.

Authors:  Véronique Leh-Louis; Bénédicte Wirth; Serge Potier; Jean-Luc Souciet; Laurence Despons
Journal:  Genetics       Date:  2004-08       Impact factor: 4.562

9.  A palindrome-mediated mechanism distinguishes translocations involving LCR-B of chromosome 22q11.2.

Authors:  Anthony L Gotter; Tamim H Shaikh; Marcia L Budarf; C Harker Rhodes; Beverly S Emanuel
Journal:  Hum Mol Genet       Date:  2003-11-12       Impact factor: 6.150

10.  Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion.

Authors:  Sulagna C Saitta; Stacy E Harris; Ann P Gaeth; Deborah A Driscoll; Donna M McDonald-McGinn; Melissa K Maisenbacher; Jill M Yersak; Prabir K Chakraborty; April M Hacker; Elaine H Zackai; Terry Ashley; Beverly S Emanuel
Journal:  Hum Mol Genet       Date:  2003-12-17       Impact factor: 6.150
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