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Alternative Splicing of MLH1 Messenger RNA in Human Normal Cells¹

Laboratoire de Génétique Moléculaire [F. C., C. M., V. M., T. F.], Service de Chirurgie Générale et Digestive [M. S.], and Service d'Urologie [L. S.], Centre Hospitalo-Universitaire de Rouen, I rue de Germont, 76031 Rouen Cedex, France

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.

¹ This work was supported in part by l'Association pour la Recherche sur le Cancer, la Fédération Nationale des Centres de Lutte Contre le Cancer, La Ligue Nationale Contre le Cancer, and Le Groupement des Entreprises Françaises dans la Lutte Contre le Cancer.

² To whom requests for reprints should be addressed.

Received 2/21/95. Accepted 3/28/95.

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