Literature DB >> 9326934

Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome.

K S Chen1, P Manian, T Koeuth, L Potocki, Q Zhao, A C Chinault, C C Lee, J R Lupski.   

Abstract

Smith-Magenis syndrome (SMS), caused by del(17)p11.2, represents one of the most frequently observed human microdeletion syndromes. We have identified three copies of a low-copy-number repeat (SMS-REPs) located within and flanking the SMS common deletion region and show that SMS-REP represents a repeated gene cluster. We have isolated a corresponding cDNA clone that identifies a novel junction fragment from 29 unrelated SMS patients and a different-sized junction fragment from a patient with dup(17)p11.2. Our results suggest that homologous recombination of a flanking repeat gene cluster is a mechanism for this common microdeletion syndrome.

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Year:  1997        PMID： 9326934     DOI： 10.1038/ng1097-154

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


  124 in total

1.  Chromosome breakage hotspots and delineation of the critical region for the 9p-deletion syndrome.

Authors:  L A Christ; C A Crowe; M A Micale; J M Conroy; S Schwartz
Journal:  Am J Hum Genet       Date:  1999-11       Impact factor: 11.025

2.  Clustered 11q23 and 22q11 breakpoints and 3:1 meiotic malsegregation in multiple unrelated t(11;22) families.

Authors:  T H Shaikh; M L Budarf; L Celle; E H Zackai; B S Emanuel
Journal:  Am J Hum Genet       Date:  1999-12       Impact factor: 11.025

3.  Localization of mariner DNA transposons in the human genome by PRINS.

Authors:  L T Reiter; T Liehr; B Rautenstrauss; H M Robertson; J R Lupski
Journal:  Genome Res       Date:  1999-09       Impact factor: 9.043

4.  Engineering mouse chromosomes with Cre-loxP: range, efficiency, and somatic applications.

Authors:  B Zheng; M Sage; E A Sheppeard; V Jurecic; A Bradley
Journal:  Mol Cell Biol       Date:  2000-01       Impact factor: 4.272

5.  Segmental duplications: organization and impact within the current human genome project assembly.

Authors:  J A Bailey; A M Yavor; H F Massa; B J Trask; E E Eichler
Journal:  Genome Res       Date:  2001-06       Impact factor: 9.043

6.  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

7.  Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome.

Authors:  Heidi A Heilstedt; Blake C Ballif; Leslie A Howard; Richard A Lewis; Samuel Stal; Catherine D Kashork; Carlos A Bacino; Stuart K Shapira; Lisa G Shaffer
Journal:  Am J Hum Genet       Date:  2003-04-08       Impact factor: 11.025

8.  Genetic proof of unequal meiotic crossovers in reciprocal deletion and duplication of 17p11.2.

Authors:  Christine J Shaw; Weimin Bi; James R Lupski
Journal:  Am J Hum Genet       Date:  2002-10-09       Impact factor: 11.025

Review 9.  Diamond-Blackfan Anaemia: an overview.

Authors:  I Dianzani; E Garelli; U Ramenghi
Journal:  Paediatr Drugs       Date:  2000 Sep-Oct       Impact factor: 3.022

10.  Systematic characterisation of disease associated balanced chromosome rearrangements by FISH: cytogenetically and genetically anchored YACs identify microdeletions and candidate regions for mental retardation genes.

Authors:  J Wirth; H G Nothwang; S van der Maarel; C Menzel; G Borck; I Lopez-Pajares; K Brøndum-Nielsen; N Tommerup; M Bugge; H H Ropers; T Haaf
Journal:  J Med Genet       Date:  1999-04       Impact factor: 6.318
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