Manika Sehgal, Tiratha Raj Singh
Department of Biotechnology and Bioinformatics, Jaypee University of Information and Technology (JUIT), Waknaghat, Solan-173234, H.P., India.
Mismatch repair is a highly conserved process from prokaryotes to eukaryotes. The first evidence for mismatch repair was obtained from S. pneumonia and then work on E. coli had identified a number of genes that, when mutationally inactivated, cause hypermutable strains. Three of these proteins are essential in detecting the mismatch and directing repair machinery to it -MutS, MutH and MutL (MutS is a homologue of HexA and MutL of HexB). The various defects in mismatch repair can lead to mutations in the human homologues of the Mut proteins and affect genomic stability, which can result in microsatellite instability (MI). MI is implicated in most human cancers and majority of hereditary nonpolyposis colorectal cancers (HNPCC) are attributed to defects in MLH1. Defects in MLH1 are a cause of mismatch repair cancer syndrome (MMRCS) also known as Turcot syndrome or brain tumor-polyposis syndrome1 (BTPS1), Muir- Torre syndrome (MuToS) also abbreviated MTS and susceptibility to endometrial cancer (ENDMC). Read More …