Alternative splicing of MLH1 messenger RNA in human normal cells.
The hMLH1 protein, composed of 756 amino acids, is the human homologue of the bacterial DNA mismatch repair protein MutL, and germ line mutations of the hMLH1 gene have been identified in kindreds with hereditary nonpolyposis colorectal cancer. We have detected three alternatively spliced forms of hMLH1 mRNA in normal lymphocytes and tissues. One of the spliced forms lacks the coding region of hMLH1 from codons 227 to 295 and the two other transcripts are predicted to encode two truncated proteins retaining the 264 and 226 N-terminal amino acids of hMLH1, respectively. The biological significance of this alternative splicing remains to be established.
Charbonnier
F
F
Laboratoire de Génétique Moléculaire, Centre Hospitalo-Universitaire de Rouen, France.
Martin
C
C
Scotte
M
M
Sibert
L
L
Moreau
V
V
Frebourg
T
T
D048868:Adaptor Proteins, Signal Transducing; D017398:Alternative Splicing / Q000502:physiology*; D000595:Amino Acid Sequence; D001483:Base Sequence; D002352:Carrier Proteins; D002478:Cells, Cultured; D003062:Codon; D018076:DNA, Complementary / Q000235:genetics; D015870:Gene Expression; D006801:Humans; D008214:Lymphocytes / Q000378:metabolism; D008969:Molecular Sequence Data; D000070957:MutL Protein Homolog 1; D009363:Neoplasm Proteins / Q000235:genetics*; D009687:Nuclear Proteins; D016133:Polymerase Chain Reaction; D012333:RNA, Messenger / Q000235:genetics*; D014158:Transcription, Genetic
D048868:Adaptor Proteins, Signal Transducing; D002352:Carrier Proteins; D003062:Codon; D018076:DNA, Complementary; C501486:MLH1 protein, human; D009363:Neoplasm Proteins; D009687:Nuclear Proteins; D012333:RNA, Messenger; D000070957:MutL Protein Homolog 1