Direct visualization of the highly polymorphic RNU2 locus in proximity to the BRCA1 gene.
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...
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oai:doaj.org-article:32cf0e96e18a44699293ecf8e88416cd2021-11-18T08:51:29ZDirect visualization of the highly polymorphic RNU2 locus in proximity to the BRCA1 gene.1932-620310.1371/journal.pone.0076054https://doaj.org/article/32cf0e96e18a44699293ecf8e88416cd2013-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/24146815/?tool=EBIhttps://doaj.org/toc/1932-6203Although 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.Chloé TessereauMonique BuissonNastasia MonnetMarine ImbertLaure BarjhouxCaroline Schluth-BolardDamien SanlavilleEmmanuel ConseillerMaurizio CeppiOlga M SinilnikovaSylvie MazoyerPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 8, Iss 10, p e76054 (2013) |
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Medicine R Science Q |
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Medicine R Science Q Chloé Tessereau Monique Buisson Nastasia Monnet Marine Imbert Laure Barjhoux Caroline Schluth-Bolard Damien Sanlaville Emmanuel Conseiller Maurizio Ceppi Olga M Sinilnikova Sylvie Mazoyer Direct visualization of the highly polymorphic RNU2 locus in proximity to the BRCA1 gene. |
| description |
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. |
| format |
article |
| author |
Chloé Tessereau Monique Buisson Nastasia Monnet Marine Imbert Laure Barjhoux Caroline Schluth-Bolard Damien Sanlaville Emmanuel Conseiller Maurizio Ceppi Olga M Sinilnikova Sylvie Mazoyer |
| author_facet |
Chloé Tessereau Monique Buisson Nastasia Monnet Marine Imbert Laure Barjhoux Caroline Schluth-Bolard Damien Sanlaville Emmanuel Conseiller Maurizio Ceppi Olga M Sinilnikova Sylvie Mazoyer |
| author_sort |
Chloé Tessereau |
| title |
Direct visualization of the highly polymorphic RNU2 locus in proximity to the BRCA1 gene. |
| title_short |
Direct visualization of the highly polymorphic RNU2 locus in proximity to the BRCA1 gene. |
| title_full |
Direct visualization of the highly polymorphic RNU2 locus in proximity to the BRCA1 gene. |
| title_fullStr |
Direct visualization of the highly polymorphic RNU2 locus in proximity to the BRCA1 gene. |
| title_full_unstemmed |
Direct visualization of the highly polymorphic RNU2 locus in proximity to the BRCA1 gene. |
| title_sort |
direct visualization of the highly polymorphic rnu2 locus in proximity to the brca1 gene. |
| publisher |
Public Library of Science (PLoS) |
| publishDate |
2013 |
| url |
https://doaj.org/article/32cf0e96e18a44699293ecf8e88416cd |
| work_keys_str_mv |
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