HGNC Approved Gene Symbol: ARSD
Cytogenetic location: Xp22.33 Genomic coordinates (GRCh38): X:2,903,972-2,929,339 (from NCBI)
In the course of positional cloning of the gene mutant in X-linked chondrodysplasia punctata (302950), Franco et al. (1995) identified a cluster of 3 sulfatase genes located in the region Xp22.3. The genes were arylsulfatases and were designated ARSD, ARSE (300180), and ARSF (300003), in that order, proceeding from the telomere of Xp toward the centromere. Northern blot analysis detected a 5-kb and a much less abundant 3.5-kb ARSD transcript in pancreas, kidney, liver, lung, placenta, brain, and heart. Highest expression was found in pancreas and kidney.
Franco et al. (1995) showed that both ARSD and ARSE have 11 exons and are transcribed toward the telomere. Their natural substrate was not determined.
Meroni et al. (1996) noted that ARSD, ARSE, and STS (300747) have a conserved gene structure; alignment of the genomic structures revealed perfect conservation of the intron-exon junctions. Meroni et al. (1996) reported that ARSD and ARSE have several typical features of genes that map in the pseudoautosomal region of the X chromosome, i.e., they escape X inactivation, have homologs on the Y chromosome, and are not conserved in mouse. Sequence analysis of the Y-linked homologs of ARSD and ARSE indicated that they represent truncated pseudogenes.
The ARSD gene maps to the pseudoautosomal region of the X chromosome, Xp22.3 (Franco et al., 1995).
Franco, B., Meroni, G., Parenti, G., Levilliers, J., Bernard, L., Gebbia, M., Cox, L., Maroteaux, P., Sheffield, L., Rappold, G. A., Andria, G., Petit, C., Ballabio, A. A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy. Cell 81: 15-25, 1995. [PubMed: 7720070] [Full Text: https://doi.org/10.1016/0092-8674(95)90367-4]
Meroni, G., Franco, B., Archidiacono, N., Messali, S., Andolfi, G., Rocchi, M., Ballabio, A. Characterization of a cluster of sulfatase genes on Xp22.3 suggests gene duplications in an ancestral pseudoautosomal region. Hum. Molec. Genet. 5: 423-431, 1996. [PubMed: 8845834] [Full Text: https://doi.org/10.1093/hmg/5.4.423]