title: Identification and biochemical characterization of an avian sulfatase homologous to the human ARSE, the gene for X-linked chondrodysplasia punctata.
abstract: Despite many efforts, the mouse homolog of ARSE, the gene implicated in X-linked recessive chondrodysplasia punctata, has not yet been identified. This absence has so far impaired a deep study of the role of this gene. For this reason, we searched the avian homolog and here report the identification of a chicken sulfatase, cARS, that shares high degree of homology with the cluster of sulfatases located on the short arm of the human X chromosome. cARS activity against a sulfated artificial substrate is heat labile and inhibited by warfarin, features that are characteristic of ARSE. 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. The identification of the ARSE chicken gene is an important step for the study of its natural substrate and its role during development.
authors.affiliation: Telethon Institute of Genetics and Medicine c/o Area della Ricerca del CNR, Via P. Castellino 111, Naples 80131, Italy.
authors.forename: Paola
authors.initials: P
authors.lastname: Ferrante
authors.forename: Silvia
authors.initials: S
authors.lastname: Messali
authors.forename: Andrea
authors.initials: A
authors.lastname: Ballabio
authors.forename: Germana
authors.initials: G
authors.lastname: Meroni
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001192:Arylsulfatases / Q000235:genetics* / Q000378:metabolism; D019556:COS Cells; D002642:Chick Embryo; D002645:Chickens / Q000235:genetics*; D002522:Chlorocebus aethiops; D002806:Chondrodysplasia Punctata / Q000201:enzymology / Q000235:genetics; D018076:DNA, Complementary / Q000737:chemistry / Q000235:genetics; D004591:Electrophoresis, Polyacrylamide Gel; D018507:Gene Expression Regulation, Developmental; D015971:Gene Expression Regulation, Enzymologic; D040181:Genetic Diseases, X-Linked / Q000201:enzymology / Q000235:genetics; D006801:Humans; D015151:Immunoblotting; D017403:In Situ Hybridization; D008969:Molecular Sequence Data; D011994:Recombinant Proteins / Q000235:genetics / Q000378:metabolism; D016415:Sequence Alignment; D017422:Sequence Analysis, DNA; D017386:Sequence Homology, Amino Acid
chemical_list: D018076:DNA, Complementary; D011994:Recombinant Proteins; C110155:ARSL protein, human; D001192:Arylsulfatases