Disease relevance of GNS

• Deficiency of G6S results in the accumulation of undegraded substrate and the lysosomal storage disorder mucopolysaccharidosis type IIID (Sanfilippo D syndrome) [1].
• Mucopolysaccharidosis type IIID (MPS IIID; Sanfilippo syndrome type D; MIM 252940) is caused by deficiency of the activity of N-acetylglucosamine-6-sulfatase (GNS), which is normally required for degradation of heparan sulfate [2].
• These results indicate that the direct inoculation method of Vitek GNS cards from Enterobacteriaceae bloodstream infections (detected by Bactec 9240, Becton-Dickinson, Cockeysville, MD, USA) performed as well as the NCCLS broth microdilution test [3].
• Clinical evaluation of the Vitek automated system with cards GNS 122 and 127 and VTK-R07.01 software for antimicrobial susceptibility testing of Pseudomonas aeruginosa [4].

High impact information on GNS

• The IDS sequence has strong sequence homology with other sulfatases (such as sea urchin arylsulfatase, human arylsulfatases A, B, and C, and human glucosamine 6-sulfatase), suggesting that the sulfatases comprise an evolutionarily related family of genes that arose by gene duplication and divergent evolution [5].
• Both forms of caprine MPS IIID result from a nonsense mutation and consequent deficiency of lysosomal N-acetylglucosamine 6-sulfatase (G6S) activity and are associated with tissue storage and urinary excretion of heparan sulfate (HS) [6].
• For instance, the amino acid motifs SNG, ENN, LNG, and LNN were found to be more prone to deamidation, whereas the motifs GNT, TNY, YNP, WNS, SNF, CNV, SNT, WNS, FNW, HNA, FNS, SNK, GNV, HNH, SNY, LNW, SNL, NNF, DNA, GNS, and FNR showed no deamidation [7].
• The binding of chicken and mammalian viruses to tracheal epithelial cells of green monkey decreased after treatment of cells with glucosamine-6-sulfatase suggesting the presence of 6-O-Su-3'SLN determinants in the airway epithelium [8].
• Genomic basis of mucopolysaccharidosis type IIID (MIM 252940) revealed by sequencing of GNS encoding N-acetylglucosamine-6-sulfatase [2].

Biological context of GNS

• The localization of the G6S gene to chromosome 12 was confirmed using the G6S cDNA clone in Southern blot hybridization analysis of DNA from human x mouse hybrid cell lines [1].
• The amino acid sequence of N-acetylgalactosamine-6-sulfate sulfatase showed a high degree of homology with those of other sulfatases such as human arylsulfatases A, B or C, glucosamine-6-sulfatase, iduronate-2-sulfatase and sea urchin arylsulfatase [9].
• From genomic DNA of a subject with MPS IIID, we amplified and sequenced the promoter and 14 exons of GNS [2].
• Between the GNS and L genes are two coding regions, separated by a single nucleotide (C), and each bounded by recognized transcription initiation (AACAG) and termination/polyadenylation (CATG[A]7) sequences [10].
• A 2341-nucleotide region of the Adelaide River virus (ARV) genome, located immediately downstream of the second glycoprotein (GNS) gene, has been cloned and sequenced [10].

Anatomical context of GNS

• Furthermore, deficient activity of G6S was confirmed in cultured skin fibroblasts [11].

Associations of GNS with chemical compounds

• Glucosamine-6-sulphatase (G6S), a lysosomal enzyme found in all cells, is involved in the catabolism of heparin, heparan sulphate, and keratan sulphate [1].
• MATERIALS AND METHODS: In a 2-year period 253 sildenafil nonresponders were evaluated by the same urologist (GNS) [12].

Other interactions of GNS

• Human glucosamine-6-sulfatase cDNA reveals homology with steroid sulfatase [13].
• Human liver contains two major active forms of glucosamine-6-sulfatase, form A which has a single 78 kDa polypeptide and form B which has two polypeptides of 48 kDa and 32 kDa [13].
• In ARV-infected cells, the alpha region is transcribed primarily as a long 4.7-kb polycistronic mRNA containing the G, GNS, alpha 1, and alpha ORFs [10].

Analytical, diagnostic and therapeutic context of GNS

• Regional mapping by in situ hybridization of a 3H-labelled human G6S cDNA probe to human metaphase chromosomes indicated that the G6S gene is localized to chromosome 12 at q14 [1].
• METHODS: We measured serum IGF-I and IGFBPs levels by radioimmune assay and immune radiomagnetic assay in 36 children with NS, consisting of an active stage group (ANS, n = 12), a remission stage group (RE, n = 12), an active stage group with glucocorticoid treatment (GNS, n = 12), and a normal control group (NC, n = 10) [14].

References