Comparative and evolutionary studies of mammalian arylsulfatase and sterylsulfatase genes and proteins encoded on the X-chromosome

Vertebrate Arylsulfatase K (ARSK): Comparative and Evolutionary Studies of the Lysosomal 2-Sulfoglucuronate Sulfatase

“…Seven groups of these genes and proteins were identified, including ARS group 5 for a single human ARSK gene, which encodes a distinct 526 amino acid sequence enzyme and shares <27% sequence identities with other human arylsulfatases. This is in contrast to the sequence identities observed for other human enzyme ARS groups: Group 1 (ARSA, ARSG and GALNS) (33-39% identical); group 2 (ARSB, ARSI and ARSJ) (54-59%) [2]; group 3 (ARSD, ARSE, ARSF, ARSH and STS) (57-64%) [3]; and group 4 ARS sequences (SULF1, SULF2 and GNS) (42-67%) [5]. Groups 6 (SGSH) and 7 (IDS) [4] enzymes, however, exhibited distinct amino acid sequences which were 22% and 26% identical, respectively, with the human ARSK amino acid sequence ( Table 2).…”

“…Groups 6 (SGSH) and 7 (IDS) [4] enzymes, however, exhibited distinct amino acid sequences which were 22% and 26% identical, respectively, with the human ARSK amino acid sequence ( Table 2). With the exception of the group 3 gene cluster previously reported on the human X-chromosome for ARSD, ARSE, ARSF, ARSH and STS [3], other human ARS genes are separately located on the human genome, including ARSK on human chromosome 5 [6,7]. …”

“…Vertebrate ARSK genes and encoded proteins represent a distinct gene and protein arylsulfatase family which share key conserved sequences and domains reported for other arylsulfatase proteins previously studied [2][3][4][5][17][18][19][20]. The metabolic role for ARSK has recently been established and the natural substrate for this enzyme described as lysosomal 2-sulfoglucuronate, a key enzyme in the catabolism of heparin sulfate and dermatan sulfate [8].…”

“…Seventeen human sulfatase gene families and fourteen mouse sulfatase gene families encode sulfatases which catalyse the hydrolysis of a range of biological sulfate esters in the body [1][2][3][4][5]. The gene encoding arylsulfatase K (ARSK; EC 3.1.6.13) (ARSK in vertebrates; Arsk in rodents) was initially identified using bioinformatic methods through its conserved sulfatase active site signature sequence [1,6] and subsequently cloned, expressed in human cells, purified and biochemically characterized as an arylsulfatase [7], recently identified as catalysing the hydrolysis of the 2-O-sulfate group from 2-sulfoglucuronate [8].…”

Chromosome X-wide analysis of positive selection in human populations: from common and private signals to selection impact on inactivated genes and enhancers-like signatures

“…Neuron-surface specific genes are also highly represented among the enriched terms with kinases like CASK , channels ( TRPC5 ) and neuroligins ( NLGN4X, NLGN3 ), which present their own term in numerous populations (“neurexin family protein binding” (GO:0042043)). However, for the African populations (Supplementary Table 3A) “sulfuric ester hydrolase activity” (GO:0004065) and “endoplasmic reticulum lumen” (GO:0004065) are consistently enriched non-neurological terms represented by members of the arylsulfatase family ( ARS ) and steroid sulfatase ( STS ) gene (Holmes, 2017). These genes, which are involved in hormone metabolism and are associated with X-linked diseases like chondrodysplasia punctata (Franco et al, 1995) and ichthyosis (Basler et al, 1992), present a strong signal of selection (99.9 th ) in African populations.…”