Literature DB >> 8490623

Determination of the organisation of coding sequences within the iduronate sulphate sulphatase (IDS) gene.

R H Flomen1, E P Green, P M Green, D R Bentley, F Giannelli.   

Abstract

The structure of the gene coding for iduronate sulphate sulphatase (IDS) has been determined. We have used exon to exon and vectorette PCR to identify 9 exons within the IDS gene and to characterise the surrounding intron sequences. The results of this study will be useful for the complete analysis of many mutations giving rise to Hunter syndrome. IDS is the first member of the group of lysosomal nonarylsulphatase genes for which the gene structure has been determined. It bears no relationship to the exon organisation of steroid sulphatase, despite the homology between these two proteins. This suggests that the division of the sulphatases into the two subgroups on the basis of substrate specificity is also reflected at the level of gene structure.

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Year:  1993        PMID: 8490623     DOI: 10.1093/hmg/2.1.5

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN: 0964-6906            Impact factor:   6.150


  20 in total

1.  Expression studies of mutations underlying Taiwanese Hunter syndrome (mucopolysaccharidosis type II).

Authors:  Jui-Hung Chang; Shuan-Pei Lin; Shu-Chuan Lin; Kai-Li Tseng; Chia-Ling Li; Chih-Kuang Chuang; Guey-Jen Lee-Chen
Journal:  Hum Genet       Date:  2004-12-22       Impact factor: 4.132

2.  Reassessment of biochemically determined Hunter syndrome carrier status by DNA testing.

Authors:  K M Timms; F J Edwards; J W Belmont; J R Yates; R A Gibbs
Journal:  J Med Genet       Date:  1998-08       Impact factor: 6.318

3.  Germline and somatic mosaicism in a female carrier of Hunter disease.

Authors:  R Froissart; I Maire; V Bonnet; T Levade; D Bozon
Journal:  J Med Genet       Date:  1997-02       Impact factor: 6.318

4.  Molecular analysis in 23 Hunter disease families.

Authors:  W Lissens; S Seneca; I Liebaers
Journal:  J Inherit Metab Dis       Date:  1997-07       Impact factor: 4.982

5.  An Alu-mediated rearrangement as cause of exon skipping in Hunter disease.

Authors:  Verena Ricci; Stefano Regis; Marco Di Duca; Mirella Filocamo
Journal:  Hum Genet       Date:  2003-02-11       Impact factor: 4.132

Review 6.  Expression of the disease on female carriers of X-linked lysosomal disorders: a brief review.

Authors:  Louise L C Pinto; Taiane A Vieira; Roberto Giugliani; Ida V D Schwartz
Journal:  Orphanet J Rare Dis       Date:  2010-05-28       Impact factor: 4.123

7.  C6 haplotypes: associations of a Dde I site polymorphism to complement deficiency genes and the Msp I restriction fragment length polymorphism (RFLP)

Authors:  B A Fernie; M J Hobart; G Delbridge; P C Potter; A Orren; P J Lachmann
Journal:  Clin Exp Immunol       Date:  1994-02       Impact factor: 4.330

8.  Molecular basis of iduronate-2-sulphatase gene mutations in patients with mucopolysaccharidosis type II (Hunter syndrome).

Authors:  P Li; A B Bellows; J N Thompson
Journal:  J Med Genet       Date:  1999-01       Impact factor: 6.318

9.  Molecular analysis of the iduronate-2-sulfatase gene in Thai patients with Hunter syndrome.

Authors:  S Keeratichamroen; J R Ketudat Cairns; D Wattanasirichaigoon; P Wasant; L Ngiwsara; P Suwannarat; S Pangkanon; J Kuptanon; P Tanpaiboon; T Rujirawat; S Liammongkolkul; J Svasti
Journal:  J Inherit Metab Dis       Date:  2008-05-20       Impact factor: 4.982

10.  Evidence for an iduronate-sulfatase pseudogene near the functional Hunter syndrome gene in Xq27.3-q28.

Authors:  M Rathmann; S Bunge; C Steglich; E Schwinger; A Gal
Journal:  Hum Genet       Date:  1995-01       Impact factor: 4.132

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