RNA sequencing of cancer reveals novel splicing alterations.

Abstract:

:Breast cancer transcriptome acquires a myriad of regulation changes, and splicing is critical for the cell to "tailor-make" specific functional transcripts. We systematically revealed splicing signatures of the three most common types of breast tumors using RNA sequencing: TNBC, non-TNBC and HER2-positive breast cancer. We discovered subtype specific differentially spliced genes and splice isoforms not previously recognized in human transcriptome. Further, we showed that exon skip and intron retention are predominant splice events in breast cancer. In addition, we found that differential expression of primary transcripts and promoter switching are significantly deregulated in breast cancer compared to normal breast. We validated the presence of novel hybrid isoforms of critical molecules like CDK4, LARP1, ADD3, and PHLPP2. Our study provides the first comprehensive portrait of transcriptional and splicing signatures specific to breast cancer sub-types, as well as previously unknown transcripts that prompt the need for complete annotation of tissue and disease specific transcriptome.

journal_name

Sci Rep

journal_title

Scientific reports

authors

Eswaran J,Horvath A,Godbole S,Reddy SD,Mudvari P,Ohshiro K,Cyanam D,Nair S,Fuqua SA,Polyak K,Florea LD,Kumar R

doi

10.1038/srep01689

subject

Has Abstract

pub_date

2013-01-01 00:00:00

pages

1689

issn

2045-2322

pii

srep01689

journal_volume

3

pub_type

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