Isolation and functional analysis of the melanoma specific promoter region of human GD3 synthase gene

Human GD3 synthase gene consisted of five exons and span about 135 kilobases. The 5'-flanking region lacked canonical TATA and CAAT boxes, but contained SP1 binding site(s) as in rat and mouse. The promoter activity in the 5'-flanking region (-2262 approximately +1) became definite when SV40 enhancer was added to the reporter plasmid. Luciferase assay with deletion mutants suggested the existence of a silencer region between -2262 and -978 nt similarly with those in mouse and rat. They also commonly contained a GT/CG repeat sequence at upstream of -1200 approximately -1300 nt, suggesting that they form Z-type DNA, and are involved in the gene regulation.