Analysis of the 5′ region of PMS2 reveals heterogeneous transcripts and a novel overlapping gene

Nicholas C. Nicolaides, Kenneth W. Kinzler, Bert Vogelstein

Research output: Contribution to journalArticlepeer-review

Abstract

ThePMS2gene encodes a protein that is involved in DNA mismatch repair and is mutated in a subset of patients with hereditary nonpolyposis colon cancer (HNPCC). The previously publishedPMS2cDNA sequence lacks an upstream in-frame stop codon preceding the presumptive initiating methionine. To evaluate the 5′ terminus of thePMS2coding region further, we isolated additional cDNA clones, RT-PCR products, and the corresponding 5′ genomic segment of thePMS2locus. ThePMS2gene transcripts were found to have heterogeneous but colinear 5′ termini, one of which contained an in-frame termination codon preceding the initiating methionine. In addition, a novel gene encoding a 34.5-kDa polypeptide was found to initiate transcriptionally withinPMS2from the opposite strand.

Original languageEnglish (US)
Pages (from-to)329-334
Number of pages6
JournalGenomics
Volume29
Issue number2
DOIs
StatePublished - Sep 1995

ASJC Scopus subject areas

  • Genetics

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