Volume 122, Issue 1, Pages (January 2002)

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Volume 122, Issue 1, Pages 211-219 (January 2002) Functional analysis of hMLH1 variants and HNPCC-related mutations using a human expression system Joerg Trojan, Stefan Zeuzem, Ann Randolph, Christine Hemmerle, Angela Brieger, Jochen Raedle, Guido Plotz, Josef Jiricny, Giancarlo Marra Gastroenterology Volume 122, Issue 1, Pages 211-219 (January 2002) DOI: 10.1053/gast.2002.30296 Copyright © 2002 American Gastroenterological Association Terms and Conditions

Fig. 1 Schematic representation of germline hMLH1 missense mutations found in patients with HNPCC based on the ICG-HNPCC mutation database (www.nfht.nl). hMLH1 variants studied in this report are shown in bold. Alleles described as pathogenic mutations are shown in the upper part of the figure,24-26,29-32,35,36 whereas those described as polymorphisms are indicated below.33,34 The ATPase domain located at the amino-terminal part of hMLH1 and the hPMS2-interacting domain at the carboxy terminus are also shown. Gastroenterology 2002 122, 211-219DOI: (10.1053/gast.2002.30296) Copyright © 2002 American Gastroenterological Association Terms and Conditions

Fig. 2 Characterization of DNA MMR efficiency of human 293T-cell extracts. TK6, MMR-proficient control; HCT116, MMR-deficient control lacking hMLH1 (hMLH1−/−) and hPMS2. (A) Western blot analysis of hMSH6, hMSH2, hPMS2, and hMLH1 expression. Cytoplasmic (CE), nuclear (NE), and total extracts of 293T are lacking hMLH1 and hPMS2. After 5-aza-2'-deoxycytidine treatment (293T+5'Aza), hMLH1 and hPMS2 expression was partially restored, indicating that transcriptional inactivation in these cells resulted from hMLH1 promoter hypermethylation. β-tub, β-tubulin. (B) In vitro MMR analysis of cytoplasmic extracts. MMR deficiency was shown for 293T extracts, whereas complementation with recombinant hMutLα restored MMR activity. Data are presented as the mean ± SD. +MutLα, complementation with recombinant hMutLα, expressed in the baculovirus system. Gastroenterology 2002 122, 211-219DOI: (10.1053/gast.2002.30296) Copyright © 2002 American Gastroenterological Association Terms and Conditions

Fig. 3 Analysis of recombinant hMLH1 variants. (A) Expression of recombinant hMLH1 and hPMS2 in 293T cells. Extracts were prepared 20 hours after cotransfection of 293T cells with the hMLH1 and hPMS2 vectors, and 50 μg aliquots were analyzed by Western blotting. The hMLH1 variants are indicated at the top and their expression, along with that of the wild-type hPMS2, is compared with that obtained after transfection of 293T cells with wild-type hMLH1 and hPMS2 (third lane). Mock transfection with a pcDNA3.1 expression vector lacking hMLH1 cDNA; β-tub, β-tubulin. (B) In vitro DNA MMR analysis of recombinant hMLH1 variants expressed in 293T cells. MMR deficiency was shown for the hMLH1 variants T117M, V185G, G244D, and ▵9/10, whereas the polymorphisms I219V and R265H and the putative missense mutations R217C, R265C, and V326A were MMR proficient. Data are presented as the mean ± SD. +MutLα, complementation with recombinant hMutLα, expressed in a baculovirus system. Gastroenterology 2002 122, 211-219DOI: (10.1053/gast.2002.30296) Copyright © 2002 American Gastroenterological Association Terms and Conditions