Familial retinoblastoma due to intronic LINE-1 insertion causes aberrant and noncanonical mRNA splicing of the RB1 gene View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2016-01-14

AUTHORS

Carlos Rodríguez-Martín, Florencia Cidre, Ana Fernández-Teijeiro, Gema Gómez-Mariano, Leticia de la Vega, Patricia Ramos, Ángel Zaballos, Sara Monzón, Javier Alonso

ABSTRACT

Retinoblastoma (RB, MIM 180200) is the paradigm of hereditary cancer. Individuals harboring a constitutional mutation in one allele of the RB1 gene have a high predisposition to develop RB. Here, we present the first case of familial RB caused by a de novo insertion of a full-length long interspersed element-1 (LINE-1) into intron 14 of the RB1 gene that caused a highly heterogeneous splicing pattern of RB1 mRNA. LINE-1 insertion was inferred by mRNA studies and full-length sequenced by massive parallel sequencing. Some of the aberrant mRNAs were produced by noncanonical acceptor splice sites, a new finding that up to date has not been described to occur upon LINE-1 retrotransposition. Our results clearly show that RNA-based strategies have the potential to detect disease-causing transposon insertions. It also confirms that the incorporation of new genetic approaches, such as massive parallel sequencing, contributes to characterize at the sequence level these unique and exceptional genetic alterations. More... »

PAGES

463-466

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/jhg.2015.173

DOI

http://dx.doi.org/10.1038/jhg.2015.173

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1014843966

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/26763876


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