Infidelity in the structure of ectopic transcripts: a novel exon in lymphocyte dystrophin transcripts

Hum Mutat. 1993;2(4):293-9. doi: 10.1002/humu.1380020409.

Abstract

Ectopic (or "illegitimate") transcripts have recently become popular as a means of facilitating the study of transcripts normally considered to have a pattern of expression restricted to one or a few tissues. It has been generally assumed that the structure of an ectopic transcript faithfully represents that of its tissue-specific counterpart. We describe here the inclusion of a novel exon in 50% of ectopic dystrophin transcripts from human peripheral blood lymphocytes. The novel sequence resembles a conserved region in the 3' untranslated region of members of the carcinoembryonic antigen gene family and lies within the first intron of the human dystrophin gene. This constitutes a significant departure from the expected in vivo splicing behaviour in an ectopic transcript and suggests that there may be exceptions to the assumption that ectopic transcripts are processed in a similar way to their tissue-specific counterparts.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Child
  • DNA
  • Dystrophin / biosynthesis
  • Dystrophin / genetics*
  • Exons*
  • Humans
  • Lymphocytes / metabolism*
  • Male
  • Molecular Sequence Data
  • Muscular Dystrophies / genetics*
  • RNA, Messenger / genetics*
  • Sequence Homology, Nucleic Acid
  • Transcription, Genetic

Substances

  • Dystrophin
  • RNA, Messenger
  • DNA

Associated data

  • GENBANK/L06900
  • GENBANK/M15042
  • GENBANK/M22312
  • GENBANK/M33326