Literature DB >> 7360152

High frequencies of inversions and translocations of chromosomes 7 and 14 in ataxia telangiectasia.

A Aurias, B Dutrillaux, D Buriot, J Lejeune.   

Abstract

The R-banding of more than 1100 lymphocytes and fibroblasts from 11 patients with ataxia telangiectasia (AT) showed rearrangements of chromosomes 7 and/or 14 in about 7% of the cells. Among these rearrangements, pericentric inversion of chromosome 7 was the most frequent, and the paracentric inversion of chromosome 14 not very rare. These inversions are believed to be fairly specific of AT, and their absence in the previously reported literature may be due to technical problems. Inversions were also observed in the lymphocytes of presumed heterozygote carriers with a lower frequency, and may be of some help for the detection of healthy heterozygote carriers of the AT gene.

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Mesh：

Year:  1980        PMID： 7360152     DOI： 10.1016/0027-5107(80)90101-3

Source DB:  PubMed          Journal:  Mutat Res        ISSN： 0027-5107            Impact factor:   2.433


  46 in total

Review 1.  The pathogenesis of ataxia-telangiectasia. Learning from a Rosetta Stone.

Authors:  R A Gatti; S Becker-Catania; H H Chun; X Sun; M Mitui; C H Lai; N Khanlou; M Babaei; R Cheng; C Clark; Y Huo; N C Udar; R K Iyer
Journal:  Clin Rev Allergy Immunol       Date:  2001-02       Impact factor: 8.667

2.  The yeast TEL1 gene partially substitutes for human ATM in suppressing hyperrecombination, radiation-induced apoptosis and telomere shortening in A-T cells.

Authors:  E Fritz; A A Friedl; R M Zwacka; F Eckardt-Schupp; M S Meyn
Journal:  Mol Biol Cell       Date:  2000-08       Impact factor: 4.138

3.  Isolation of full-length ATM cDNA and correction of the ataxia-telangiectasia cellular phenotype.

Authors:  N Zhang; P Chen; K K Khanna; S Scott; M Gatei; S Kozlov; D Watters; K Spring; T Yen; M F Lavin
Journal:  Proc Natl Acad Sci U S A       Date:  1997-07-22       Impact factor: 11.205

4.  Underexpression and abnormal localization of ATM products in ataxia telangiectasia patients bearing ATM missense mutations.

Authors:  Virginie Jacquemin; Guillaume Rieunier; Sandrine Jacob; Dorine Bellanger; Catherine Dubois d'Enghien; Anthony Laugé; Dominique Stoppa-Lyonnet; Marc-Henri Stern
Journal:  Eur J Hum Genet       Date:  2011-11-09       Impact factor: 4.246

5.  Progressive vitiligo, mental retardation, facial dysmorphism, and urethral duplication without chromosomal breakage or immunodeficiency.

Authors:  P Labrune; R Assathiany; D Penso; M Odièvre
Journal:  J Med Genet       Date:  1992-08       Impact factor: 6.318

6.  Tissue specificity of chromosomal rearrangements in ataxia-telangiectasia.

Authors:  T L Kojis; R R Schreck; R A Gatti; R S Sparkes
Journal:  Hum Genet       Date:  1989-11       Impact factor: 4.132

7.  Inverted duplication of JH associated with chromosome 14 translocation and T-cell leukemia in ataxia-telangiectasia.

Authors:  J P Johnson; R A Gatti; T S Sears; R L White
Journal:  Am J Hum Genet       Date:  1986-12       Impact factor: 11.025

Review 8.  Pericentric inversions. Problems and significance for clinical genetics.

Authors:  P Kaiser
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

Review 9.  Gene rearrangements and chromosomal translocations in T cell lymphoma--diagnostic applications and their limits.

Authors:  H Griesser
Journal:  Virchows Arch       Date:  1995       Impact factor: 4.064

10.  High recurrence of rearrangements involving chromosome 14 in an ataxia telangiectasia lymphoblastoid cell line and in its mutagen-treated derivatives.

Authors:  D Lefrançois; N Kokalj; E Viegas-Péquignot; L Montagnier; B Dutrillaux
Journal:  Hum Genet       Date:  1991-03       Impact factor: 4.132
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