Disease relevance of ARSE

• Mutation analysis indicated ARSE as the gene responsible for X-linked recessive chondrodysplasia punctata [1].
• Expression of the ARSF cDNA in COS cells resulted in a heat-labile arylsulfatase activity that is not inhibited by warfarin, supporting our hypothesis that only ARSE is specifically inhibited by warfarin and is most likely involved in warfarin embryopathy [1].
• Brachytelephalangic dwarfism due to the loss of ARSE and SHOX genes resulting from an X;Y translocation [2].
• Furthermore, two out of three A/ASE peptides were able to neutralize HIV-1 in vitro [3].
• Enhanced cytogenetic damage by ASE was observed when Ehrlich ascites tumour cells (EAT cells) were exposed in vivo to caffeine [4].

Psychiatry related information on ARSE

• The factors determining physical activity were based mainly on those used in the Attitude, Social influence and self-Efficacy (ASE) model [5].
• A three-step multivariate analysis was carried out by means of a multiple linear regression, introducing cancer behavioural risk as the dependent variable and the following covariables: psychosocial factors in the ASE model, sociodemographic variables and the family history of cancer [6].

High impact information on ARSE

• A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy [7].
• X-linked recessive chondrodysplasia punctata (CDPX) is a congenital defect of bone and cartilage development characterized by aberrant bone mineralization, severe underdevelopment of nasal cartilage, and distal phalangeal hypoplasia [7].
• Point mutations in one of these genes were identified in five patients with CDPX [7].
• The loss of activity due to these mutations confirms their involvement in the clinical phenotype and points to the importance of these residues in the correct folding of a catalytically active ARSE enzyme [8].
• Mutations leading to amino acid substitutions were identified recently in CDPX patients, in the coding region of the arylsulfatase E (ARSE) gene, a novel member of the sulfatase gene family [8].

Chemical compound and disease context of ARSE

• We report the prenatal diagnosis of a male fetus with X-linked recessive chondrodysplasia punctata (CDPX), steroid sulphatase (STS) deficiency, X-linked Kallmann syndrome (KAL), and a chromosome deletion at Xp22.31 [9].

Biological context of ARSE

• Transfection of the ARSE full-length cDNA, in Cos7 cells, allowed us to establish that its protein product is a 60-kD precursor, which is subject to N-glycosylation, to give a mature 68-kD form that, unique among sulfatases, is localized to the Golgi apparatus [8].
• The gene of CDPX has been identified recently, and five point mutations of the gene, named ARSE, have been described [10].
• Brachytelephalangia was the only result of ARSE gene deletion in this case [2].
• Further studies are necessary to investigate genotype/phenotype correlation in cases with translocations or microdeletions on Xp22.3, including the ARSE and the SHOX gene loci [2].
• Single strand conformation polymorphism (SSCP) and sequence analysis of the patient's DNA allowed the identification of a new mutation of the ARSE gene; this mutation causes an amino acid substitution from cysteine to tyrosine at position 492 of the ARSE predicted protein product [10].

Anatomical context of ARSE

• Expression of the ARSE gene in COS cells resulted in a heat-labile arylsulfatase activity that was inhibited by warfarin [1].
• The expression in pharyngeal arches, somites, and leg buds during chick development is consistent with cARS being the functional ortholog of ARSE, matching the tissues affected in this genetic disorder [11].
• Competitive inhibitors of ASE I or the addition of excess L-arginine lead to the re-expression of CD3zeta and recovery of T cell proliferation [12].
• Peptides with alterations in NPYG facilitated neurite retention but not attraction and, conversely, molecules with alterations in ASE facilitated neurite attraction but not retention [13].
• In contrast to mouse lefty1, which is expressed predominantly in the floor plate under the control of a right side-specific silencer, human LEFTY1 is expressed mainly in left lateral plate mesoderm under the control of an ASE-like left side-specific enhancer [14].

Associations of ARSE with chemical compounds

• RESULTS: In the taper phase, there were no significant differences between the sertraline- and placebo-treated women on the sum of the ASE-derived symptoms [15].
• Erythromycin, josamycin, clindamycin, and ASE 136 BS (a new erythromycin derivative) were the most active against the human strains [16].
• SCEs were demonstrated in EAT-bearing mice, by the i.p. injection of BrdUrd adsorbed onto activated charcoal, 1 h after the i.p. injection of ASE and/or caffeine [4].
• Pressurized liquid extraction (PLE, ASE) was compared with the Folch procedure (a solid-liquid extraction with chloroform/methanol 2:1, v/v) for the lipid extraction of egg-containing food; the accuracy of PLE for the quantitative determination of oxysterols in whole egg powder was evaluated [17].
• Evaluation and characterization of micronuclei induced by the antitumour agent ASE [3beta-hydroxy-13alpha-amino-13, 17-seco-5alpha-androstan-17-oic-13, 17-lactam-p-bis(2-chloroethyl)amino phenylacetate] in human lymphocyte cultures [18].

Other interactions of ARSE

• We recently reported the isolation of two new members of the sulfatase gene family, arylsulfatase D (ARSD) and E (ARSE), located approximately 50 kb from each other in the Xp22.3 region [1].
• X-linked recessive chondrodysplasia punctata due to a new point mutation of the ARSE gene [10].
• CDPX is located between 2650 and 5550 kb from Xpter, and STS is located between 7250 and 7830 kb from Xpter [19].
• Although the locus for X-linked recessive chondrodysplasia punctata (CDPX1) has been mapped to the region between PABX and DXS31 (the critical region is about 3 Mb long), the precise location within the critical region has not been determined [20].

Analytical, diagnostic and therapeutic context of ARSE

• METHODS: Patients were stratified into high-, intermediate-, and low-risk groups according to the American Association of Cardiovascular and Pulmonary Rehabilitation risk stratification criteria for clinical events (ARSE) at program entry [21].
• Five missense mutations found in CDPX patients were introduced into wild-type ARSE cDNA by site-directed mutagenesis [8].
• We measured ambulatory 24-hour blood pressure (SpaceLab system), echocardiography (ASE criteria, Acuson 128 XP 10), CIn and CPAH, urinary Na excretion, PRA and insulin concentration [22].
• Lympocytes were treated with different concentrations of ASE (0.1, 0.25, 0.5, 1, 2.5, 5, 10 and 20 microg/ml) at two different cell culture times, 21 and 41 h after culture initiation [18].
• METHODS: In four cross-sectional studies (N = 918, N = 354, N = 225, N = 317), smokers filled in a questionnaire based on the ASE model, while the motivational phase question was based on the stage definitions from the Transtheoretical model [23].

References