Multiple forms of the APC gene transcripts and their tissue-specific expression

Akira Horii, Shuichi Nakatsuru, Shigetoshi Ichii, Hiroki Nagase, Yusuke Nakamura

Research output: Contribution to journalArticlepeer-review

111 Citations (Scopus)

Abstract

We have detected multiple forms of RNA transcript from APC, the gene which is responsible for familial adenomatous polyposis (FAP). Transcriptional initiation occurs at three sites in two distinct non-translating exons at the 5' end of the gene. At least five different forms of 5' non-coding sequences, generated by alternative splicing, exist. The splicing mechanism seems to be regulated in a tissue-specific fashion, and one type of transcript contained an additional exon, which was transcribed specifically in brain. Analyses of mRNAs from two colorectal-tumor cell lines by reverse-transcriptase polymerase chain reaction (RT-PCR) revealed that one or another of the transcriptional forms was absent in both cell lines. This observation suggested the presence of mutations in the control region or the first exon of APC, or that mutation(s) could have affected the splicing efficiency or transcriptional initiation of the gene in these tumors. Furthermore, we found that the alternative splicing involving the 19 kDa protein of signal recognition particle (SRP19) gene, that is known to occur at exon 14 of APC, is also controlled in a tissue-specific manner, and one type of transcript lacked in some organs.

Original languageEnglish
Pages (from-to)283-287
Number of pages5
JournalHuman molecular genetics
Volume2
Issue number3
DOIs
Publication statusPublished - 1993 Mar

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

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