Dissecting the Structure and Mechanism of a Complex Duplication-Triplication Rearrangement in theDMDGene-Reference-Cited by-同舟云学术

Dissecting the Structure and Mechanism of a Complex Duplication-Triplication Rearrangement in theDMDGene

Published:2013-06-03 Issue:8 Volume:34 Page:1080-1084
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Ishmukhametova Aliya¹²,Chen Jian-Min³,Bernard Rafaëlle⁴,de Massy Bernard⁵,Baudat Frédéric⁵,Boyer Amandine⁴,Méchin Déborah²,Thorel Delphine²,Chabrol Brigitte⁶,Vincent Marie-Claire²,Khau Van Kien Philippe²,Claustres Mireille¹²⁷,Tuffery-Giraud Sylvie¹⁷

Affiliation:

1. Université Montpellier 1; UFR médecine; Montpellier F-34000 France

2. CHU Montpellier, Hôpital Arnaud de Villeneuve; Laboratoire de Génétique Moléculaire; Montpellier F-34000 France

3. INSERM U1078 and Établissement Français du Sang (EFS) - Bretagne; Brest F-29218 France

4. Laboratoire de Génétique Moléculaire; Hôpital de la Timone CHU; Marseille F-13385 France

5. Institut de Génétique Humaine; UPR1142, CNRS; Montpellier France

6. CHU La Timone; Service de Neurologie Pédiatrique; Marseille F-13385 France

7. INSERM, U827; Montpellier F-34000 France

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22353/fullpdf

Reference17 articles.

1. Aberrant firing of replication origins potentially explains intragenic nonrecurrent rearrangements within genes, including the human DMD gene;Ankala;Genome Res,2012

2. PRDM9 is a major determinant of meiotic recombination hotspots in humans and mice;Baudat;Science,2010

3. PRDM9 variation strongly influences recombination hot-spot activity and meiotic instability in humans;Berg;Nat Genet,2010

4. Low-copy repeats at the human VIPR2 gene predispose to recurrent and nonrecurrent rearrangements;Beri;Eur J Hum Genet,2012

5. Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome;Carvalho;Nat Genet,2011

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