We have isolated lambda-phage clones containing the human arylsulfatas
e B gene region from a genomic lambda47.1 library. The human arylsulfa
tase B gene comprises 8 exons interrupted by 7 introns. DNA sequences
of all intron-exon boundaries and the 5' flanking region of the gene w
ere determined. All intron-exon splice junctions conformed to the GT/A
G consensus sequence. Primer extension analysis revealed multiple star
t sites 1 to 135 nucleotides 5' of the ATG translational start codon.
A 398 bp DNA-fragment of the 5' flanking region exhibits promotor acti
vity when transiently expressed in BHK-21 cells using the bacterial ch
loramphenicol acetyltransferase gene as a reporter gene. This putative
promotor region is located in a CpG island and contains potential Sp1
and AP2 binding sites but lacks typical TATA and CAAT box motifs.