Structure of the human arylsulfatase B gene.

We have isolated lambda-phage clones containing the human arylsulfatase B gene region from a genomic lambda 47.1 library. The human arylsulfatase B gene comprises 8 exons interrupted by 7 introns. DNA sequences of all intron-exon boundaries and the 5' flanking region of the gene were determined. All intron-exon splice junctions conformed to the GT/AG consensus sequence. Primer extension analysis revealed multiple start sites 1 to 135 nucleotides 5' of the ATG translational start codon. A 398 bp DNA-fragment of the 5' flanking region exhibits promotor activity when transiently expressed in BHK-21 cells using the bacterial chloramphenicol 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.