PMS2-RELATED GENES FLANK THE REARRANGEMENT BREAKPOINTS ASSOCIATED WITH WILLIAMS-SYNDROME AND OTHER DISEASES ON HUMAN-CHROMOSOME-7

The human PMS2 mismatch repair gene and a family of at least 17 other related genes (named human PMSR or PMSBL genes) have been localized to human chromosome 7. Human PMS2 has been mapped previously to 7p22 and shown to be causative in hereditary nonpolyposis colon cancer (HNPCC) , but the human PMSBL genes have not been positioned in the context of the physical or genetic map of chromosome 7. In this study we have us ed various mapping methodologies to determine the precise location of the human PMS2L genes at 7q11.22, 7q11.23, and 7q22. Within 7q11.23, h uman PMSBL genes were found to be present at at least three sites as p art of duplicated genomic segments that flank the most common rearrang ement breakpoints in Williams syndrome. (C) 1997 Academic Press.