Direct long-read RNA sequencing identifies a subset of questionable exitrons likely arising from reverse transcription artifacts

Abstract

Resistance to CD19-directed immunotherapies in lymphoblastic leukemia has been attributed, among other factors, to several aberrantCD19pre-mRNA splicing events, including recently reported excision of a cryptic intron embedded withinCD19exon 2. While “exitrons” are known to exist in hundreds of human transcripts, we discovered, using reporter assays and direct long-read RNA sequencing (dRNA-seq), that theCD19exitron is an artifact of reverse transcription. Extending our analysis to publicly available datasets, we identified dozens of questionable exitrons, dubbed “falsitrons,” that appear only in cDNA-seq, but never in dRNA-seq. Our results highlight the importance of dRNA-seq for transcript isoform validation.

Document Details

Document Type
Pub Defense Publication
Publication Date
Jun 28, 2021
Source ID
10.1186/s13059-021-02411-1

Entities

People

  • Andrei Thomas-Tikhonenko
  • Elena Sotillo
  • Julian König
  • Katharina E. Hayer
  • Kathi Zarnack
  • Laura Schulz
  • Manuel Torres-Diz
  • Mariela Cortés-lópez
  • Mukta Asnani
  • Sarah K. Tasian
  • Yoseph Barash

Organizations

  • American Association for Cancer Research
  • German Research Foundation
  • National Cancer Institute
  • National Institute of General Medical Sciences
  • United States Department of Defense
  • United States National Library of Medicine
  • V Foundation for Cancer Research

Tags

Fields of Study

  • Biology

Readers

  • Aviation Safety Risk Assessment.
  • Molecular Genetics
  • Oncology

Technology Areas

  • Biotechnology