title: Aberrant RNA splicing in the hMSH2 gene: molecular identification of three aberrant RNA in Scottish patients with colorectal cancer in the West of Scotland.
abstract: Blood samples from 47 unselected patients with colorectal cancer were used as a source of hMSH2 mRNA. We identified three new hMSH2 aberrant mRNAs including: 1) IVS15 +5 G-->C resulting in exon 15 skipping from transcript; 2) an mRNA deletion of exons 2 to 6 inclusive; and 3) an mRNA deletion of exons 2 to 8 inclusive. In order to find out whether or not exon skipping is a natural consequence of alternative mRNA splicing, total RNA from 20 healthy individuals was converted to cDNA by reverse-transcriptase polymerase chain reaction, and our results show that none of the healthy individuals have the above aberrant mRNA. Our results also show that the presence of mutations in colorectal cancer cases, which do not fully meet the hereditary non-polyposis colon cancer criteria, would suggest that all familial cases should be investigated for germ line mutations in the mismatch repair genes.
authors.affiliation: Department of Pathology, Immunology and Laboratory Medicine, College of Medicine, University of Florida, Gainesville, Florida 32610, USA. semiromi@pathology.ufl.edu
authors.forename: A
authors.initials: A
authors.lastname: Davoodi-Semiromi
authors.forename: G W
authors.initials: GW
authors.lastname: Lanyon
authors.forename: R
authors.initials: R
authors.lastname: Davidson
authors.forename: M J
authors.initials: MJ
authors.lastname: Connor
mesh_terms: D000328:Adult; D000368:Aged; D000483:Alleles; D001483:Base Sequence; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000235:genetics / Q000473:pathology; D004252:DNA Mutational Analysis; D018076:DNA, Complementary / Q000737:chemistry / Q000235:genetics; D004268:DNA-Binding Proteins; D005192:Family Health; D005260:Female; D005787:Gene Frequency; D006801:Humans; D008297:Male; D051718:MutS Homolog 2 Protein; D009154:Mutation; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D012326:RNA Splicing; D012333:RNA, Messenger / Q000235:genetics; D012606:Scotland; D017384:Sequence Deletion
chemical_list: D018076:DNA, Complementary; D004268:DNA-Binding Proteins; D011518:Proto-Oncogene Proteins; D012333:RNA, Messenger; C497172:MSH2 protein, human; D051718:MutS Homolog 2 Protein