Identification and biochemical characterization of an avian sulfatase homologous to the human ARSE, the gene for X-linked chondrodysplasia punctata.

Gene
Paola FerranteG Meroni

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.

References

Feb 15, 1997·Structure·C S BondJ M Guss
Jun 1, 1997·Current Opinion in Genetics & Development·G ParentiA Ballabio
Feb 15, 2001·DNA and Cell Biology·P UrbitschP H Vogt
Oct 9, 2002·The Journal of Biological Chemistry·Megumi Morimoto-TomitaSteven D Rosen
Dec 4, 2002·European Journal of Human Genetics : EJHG·Paola FerranteAndrea Ballabio

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Citations

Jan 26, 2012·Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery·Timothy W Vogel, Arnold H Menezes
Jun 13, 2006·The Journal of Biological Chemistry·Olivier BerteauSylvie Rabot

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