Identification by shotgun sequencing, genomic organization, and functional analysis of a fourth arylsulfatase gene (ARSF) from the Xp22.3 region.

Genomics
A A PucaB Franco

Abstract

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. Mutation analysis indicated ARSE as the gene responsible for X-linked recessive chondrodysplasia punctata. Expression of the ARSE gene in COS cells resulted in a heat-labile arylsulfatase activity that was inhibited by warfarin. At the same time, we detected the presence of a 1.2-kb fragment located at approximately 60 kb from ARSD and ARSE with significant homology to these two genes, suggesting the existence of another sulfatase gene, arylsulfatase F (ARSF), in Xp22.3. We have used a combined approach of long-range genomic sequencing and screening of cDNA libraries to isolate the ARSF gene. 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. Genomic analysis revealed that ARSF has an intron/exon organization highly similar to those of ARSD and ARSE, which is also shared by another Xp22.3 sulfatase gene, ARSC (arylsulfatase C, also known as s...Continue Reading

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Citations

Mar 16, 2002·Genes to Cells : Devoted to Molecular & Cellular Mechanisms·Tatsuyuki OhtoMasayuki Masu
Aug 4, 2010·Proceedings of the National Academy of Sciences of the United States of America·Marie AbitbolLaurent Tiret
Oct 9, 2002·The Journal of Biological Chemistry·Megumi Morimoto-TomitaSteven D Rosen
Feb 15, 2001·DNA and Cell Biology·P UrbitschP H Vogt
May 18, 2004·Human Mutation·Maria Pia CosmaAndrea Ballabio
Oct 20, 2004·Angewandte Chemie·Sarah R HansonChi-Huey Wong
Aug 12, 1998·BioEssays : News and Reviews in Molecular, Cellular and Developmental Biology·K von FiguraT Dierks
Jan 27, 2017·International Journal of Molecular Sciences·Eva Y G De VilderOlivier M Vanakker
Dec 4, 2002·European Journal of Human Genetics : EJHG·Paola FerranteAndrea Ballabio
Feb 28, 2002·Endocrinology·Monique H A KesterTheo J Visser

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