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A germline mutation in SRRM2, a splicing factor gene, is implicated in papillary thyroid carcinoma predisposition.

Abstract：

:Papillary thyroid carcinoma (PTC) displays strong but so far largely uncharacterized heritability. Here we studied genetic predisposition in a family with six affected individuals. We genotyped all available family members and conducted whole exome sequencing of blood DNA from two affected individuals. Haplotype analysis and other genetic criteria narrowed our list of candidates to a germline variant in the serine/arginine repetitive matrix 2 gene (SRRM2). This heterozygous variant, c.1037C > T (Ser346Phe or S346F; rs149019598) cosegregated with PTC in the family. It was not found in 138 other PTC families. It was found in 7/1,170 sporadic PTC cases and in 0/1,404 controls (p = 0.004). The encoded protein SRRM2 (also called SRm300) is part of the RNA splicing machinery. To evaluate the possibility that the S346F missense mutation affects alternative splicing, we compared RNA-Seq data in leukocytes from three mutation carriers and three controls. Significant differences in alternative splicing were identified for 1,642 exons, of which a subset of 7 exons was verified experimentally. The results confirmed a higher ratio of inclusion of exons in mutation carriers. These data suggest that the S346F mutation in SRRM2 predisposes to PTC by affecting alternative splicing of unidentified downstream target genes.

journal_name

Sci Rep

journal_title

Scientific reports

authors

Tomsic J,He H,Akagi K,Liyanarachchi S,Pan Q,Bertani B,Nagy R,Symer DE,Blencowe BJ,de la Chapelle A

doi

10.1038/srep10566

subject

Has Abstract

pub_date

2015-07-02 00:00:00

pages

10566

issn

2045-2322

pii

srep10566

journal_volume

5

pub_type

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