CLONING, CHARACTERIZATION AND CHROMOSOMAL ASSIGNMENT OF THE HUMAN GENES HOMOLOGOUS TO YEAST PMS1, A MEMBER OF MISMATCH REPAIR GENES

Mutations in genes associated with the DNA mismatch repair system were considered to play important roles in predisposition to cancer, since hMSH2 and hMLH1, human homologues of yeast MSH2 and MLH1 as well as b acterial mutS and mutL genes, were found to be involved in hereditary nonpolyposis colorectal cancer(HNPCC). In addition, yeast PMS1 that is homologous to bacterial mutL and hexB, has also been proven to be rel ated to the DNA mismatch repair system. As the first step to understan d whether human homologue of the yeast PMS1 gene is associated with ge netic predisposition to cancer, we have isolated and analyzed human co unterpart of yeast PMS1 genes. DNA sequencing analyses indicated that human PMS genes constituted a multiple gene family and that some of th e family members have been mapped to chromosomal bands 7q11.23 and 7q2 2 by fluorescent in situ hybridization. (C) 1994 Academic Press, Inc.