Sp1 and AP2 transcription factors are required for the human fragile mental retardation promoter activity in SK-N-SH neuronal cells

The promoter of the human fragile mental retardation gene:(FMR1) was functi onally analyzed in order to identify elements responsible for its regulatio n, Plasmids carrying the wild type or different deleted-promoter sequences driving the chloramphenicol acetyl transferase gene (CAT) were transiently transfected into the SK-N-SH cells and the CAT activity was assessed. Delet ion studies suggested that major regulatory elements are present in a DNA r egion between positions -123 and -51. Gel mobility shift and footprinting a ssays using a DNA fragment encompassing that promoter region showed that SP 1 and AP2 transcription factors could be involved in the functioning of the FMR1 promoter. (C) 1999 Elsevier Science Ireland Ltd. All rights reserved.