Literature DB >> 7862530

One short well conserved region of Alu-sequences is involved in human gene rearrangements and has homology with prokaryotic chi.

N S Rüdiger1, N Gregersen, M C Kielland-Brandt.   

Abstract

Alu elements have repeatedly been found involved in gene rearrangements in humans. Although these elements have been suggested to stimulate gene rearrangements, sparse information is available for the possible mechanism(s) of these events. Here we present a compilation of Alu elements that have been involved in recombinational events leading to gene rearrangements, indicating the presence of a common 26 bp core sequence at or close to the sites of recombination. Besides the obvious possibility of retrotransposition, gene rearrangements may be induced by sequences that stimulate genetic recombination. We suggest that the core sequence stimulates recombination and may thereby cause the frequent involvement of these elements in gene rearrangements. Curiously, the core sequence contains the pentanucleotide motif CCAGC, which is also part of chi, an 8 bp sequence known to stimulate recBC mediated recombination in Escherichia coli.

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Year:  1995        PMID: 7862530      PMCID: PMC306663          DOI: 10.1093/nar/23.2.256

Source DB:  PubMed          Journal:  Nucleic Acids Res        ISSN: 0305-1048            Impact factor:   16.971


  44 in total

1.  Association of crossover points with topoisomerase I cleavage sites: a model for nonhomologous recombination.

Authors:  P Bullock; J J Champoux; M Botchan
Journal:  Science       Date:  1985-11-22       Impact factor: 47.728

Review 2.  Special sites in generalized recombination.

Authors:  F W Stahl
Journal:  Annu Rev Genet       Date:  1979       Impact factor: 16.830

3.  Revision of consensus sequence of human Alu repeats--a review.

Authors:  Y Kariya; K Kato; Y Hayashizaki; S Himeno; S Tarui; K Matsubara
Journal:  Gene       Date:  1987       Impact factor: 3.688

4.  Unexpected relationships between four large deletions in the human beta-globin gene cluster.

Authors:  E F Vanin; P S Henthorn; D Kioussis; F Grosveld; O Smithies
Journal:  Cell       Date:  1983-12       Impact factor: 41.582

5.  Genome instability in a region of human DNA enriched in Alu repeat sequences.

Authors:  B Calabretta; D L Robberson; H A Barrera-Saldaña; T P Lambrou; G F Saunders
Journal:  Nature       Date:  1982-03-18       Impact factor: 49.962

6.  Base sequence studies of 300 nucleotide renatured repeated human DNA clones.

Authors:  P L Deininger; D J Jolly; C M Rubin; T Friedmann; C W Schmid
Journal:  J Mol Biol       Date:  1981-09-05       Impact factor: 5.469

7.  The human growth hormone gene family: structure and evolution of the chromosomal locus.

Authors:  G S Barsh; P H Seeburg; R E Gelinas
Journal:  Nucleic Acids Res       Date:  1983-06-25       Impact factor: 16.971

8.  Structure of chi hotspots of generalized recombination.

Authors:  G R Smith; S M Kunes; D W Schultz; A Taylor; K L Triman
Journal:  Cell       Date:  1981-05       Impact factor: 41.582

9.  The LDL receptor gene: a mosaic of exons shared with different proteins.

Authors:  T C Südhof; J L Goldstein; M S Brown; D W Russell
Journal:  Science       Date:  1985-05-17       Impact factor: 47.728

10.  Mutation in LDL receptor: Alu-Alu recombination deletes exons encoding transmembrane and cytoplasmic domains.

Authors:  M A Lehrman; W J Schneider; T C Südhof; M S Brown; J L Goldstein; D W Russell
Journal:  Science       Date:  1985-01-11       Impact factor: 47.728

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  49 in total

1.  Cloning, sequencing, and analysis of inv8 chromosome breakpoints associated with recombinant 8 syndrome.

Authors:  S L Graw; T Sample; J Bleskan; E Sujansky; D Patterson
Journal:  Am J Hum Genet       Date:  2000-03       Impact factor: 11.025

2.  Characterization of Alu and recombination-associated motifs mediating a large homozygous SPG7 gene rearrangement causing hereditary spastic paraplegia.

Authors:  Eva López; Carlos Casasnovas; Javier Giménez; Antoni Matilla-Dueñas; Ivelisse Sánchez; Víctor Volpini
Journal:  Neurogenetics       Date:  2014-11-16       Impact factor: 2.660

3.  Molecular characterization of the pericentric inversion that causes differences between chimpanzee chromosome 19 and human chromosome 17.

Authors:  Hildegard Kehrer-Sawatzki; Bettina Schreiner; Simone Tänzer; Matthias Platzer; Stefan Müller; Horst Hameister
Journal:  Am J Hum Genet       Date:  2002-07-01       Impact factor: 11.025

4.  Detection of recombinant products during PCR amplification of DNA containing direct alu repeats.

Authors:  D V Shibalev; A S Voronov; V N Bashkirov; N S Kupriyanova; A P Ryskov
Journal:  Dokl Biochem Biophys       Date:  2003 Jan-Feb       Impact factor: 0.788

Review 5.  On the sequence-directed nature of human gene mutation: the role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease.

Authors:  David N Cooper; Albino Bacolla; Claude Férec; Karen M Vasquez; Hildegard Kehrer-Sawatzki; Jian-Min Chen
Journal:  Hum Mutat       Date:  2011-09-02       Impact factor: 4.878

6.  Molecular cloning of a rat chromosome putative recombinogenic sequence homologous to the hepatitis B virus encapsidation signal.

Authors:  H Aoki; K Kajino; Y Arakawa; O Hino
Journal:  Proc Natl Acad Sci U S A       Date:  1996-07-09       Impact factor: 11.205

7.  RNA-mediated gene fusion in mammalian cells.

Authors:  Sachin Kumar Gupta; Liming Luo; Laising Yen
Journal:  Proc Natl Acad Sci U S A       Date:  2018-12-11       Impact factor: 11.205

8.  Characterisation of a novel minisatellite that provides multiple splice donor sites in an interferon-induced transcript.

Authors:  M G Turri; K A Cuin; A C Porter
Journal:  Nucleic Acids Res       Date:  1995-06-11       Impact factor: 16.971

9.  An Alu-mediated rearrangement as cause of exon skipping in Hunter disease.

Authors:  Verena Ricci; Stefano Regis; Marco Di Duca; Mirella Filocamo
Journal:  Hum Genet       Date:  2003-02-11       Impact factor: 4.132

10.  Genomic rearrangements at the IGHMBP2 gene locus in two patients with SMARD1.

Authors:  Ulf P Guenther; Markus Schuelke; Enrico Bertini; Adele D'Amico; Nathalie Goemans; Katja Grohmann; Christoph Hübner; Raymonda Varon
Journal:  Hum Genet       Date:  2004-09       Impact factor: 4.132

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