NDLI: Direct Visualization of the Highly Polymorphic RNU2 Locus in Proximity to the BRCA1 Gene

Content Provider	PubMed Central
Author	Tessereau, Chloé Buisson, Monique Monnet, Nastasia Imbert, Marine Laure, Barjhoux Caroline, Schluth-bolard Sanlaville, Damien Emmanuel, Conseiller Ceppi, Maurizio Sinilnikova, Olga M. Mazoyer, Sylvie
Editor	Chadwick, Brian P.
Copyright Year	2013
Abstract	Although the breast cancer susceptibility gene BRCA1 is one of the most extensively characterized genetic loci, much less is known about its upstream variable number tandem repeat element, the RNU2 locus. RNU2 encodes the U2 small nuclear RNA, an essential splicing element, but this locus is missing from the human genome assembly due to the inherent difficulty in the assembly of repetitive sequences. To fill the gap between RNU2 and BRCA1, we have reconstructed the physical map of this region by re-examining genomic clone sequences of public databases, which allowed us to precisely localize the RNU2 array 124 kb telomeric to BRCA1. We measured by performing FISH analyses on combed DNA for the first time the exact number of repeats carried by each of the two alleles in 41 individuals and found a range of 6-82 copies and a level of heterozygosity of 98%. The precise localisation of the RNU2 locus in the genome reference assembly and the implementation of a new technical tool to study it will make the detailed exploration of this locus possible. This recently neglected macrosatellite could be valuable for evaluating the potential role of structural variations in disease due to its location next to a major cancer susceptibility gene.
Related Links	http://dx.doi.org/10.1371/journal.pone.0076054
Starting Page	76054
File Format	PDF
ISSN	19326203
e-ISSN	19326203
Journal	PLoS ONE
Issue Number	10
Volume Number	8
Language	English
Publisher	Public Library of Science
Publisher Date	2013-10-11
Access Restriction	Open
Rights Holder	Public Library of Science
Subject Keyword	Research in Higher Education
Content Type	Text
Resource Type	Article
Subject	Multidisciplinary

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