Williams Beuren Syndrome Chromosome Region 27 (WBSCR27)

WBS is a contiguous gene deletion syndrome resulting from the hemizygous deletion of several genes on chromosome 7q11.23.By searching EST databases for sequences mapping to the region of chromosome 7 deleted in Williams-Beuren syndrome (WBS), Micale et al. (2008) identified and cloned WBSCR27. They also identified the mouse Wbscr27 gene. The mouse and human WBSCR27 proteins contain a methyltransferase domain. Northern blot analysis of mouse tissues detected several Wbscr27 variants, with highest expression in liver and kidney.

By genomic sequence analysis, Micale et al. (2008) mapped the WBSCR27 gene to chromosome 7q11.23 within the interval deleted in WBS. They mapped the mouse Wbscr27 gene to a syntenic region of chromosome 5G1.