Genomics. 1992 Jan;12(1):52-7.

The iduronate sulfatase gene: isolation of a 1.2-Mb YAC contig spanning the entire gene and identification of heterogeneous deletions in patients with Hunter syndrome.

Palmieri G, Capra V, Romano G, D'Urso M, Johnson S, Schlessinger D, Morris P, Hopwood J, Di Natale P, Gatti R, Ballabio A.

Source

International Institute of Genetics and Biophysics, CNR, Naples, Italy.

Abstract

A recently isolated cDNA clone from the iduronate sulfatase (IDS) gene has been used both to seed a contig of overlapping yeast artificial chromosomes (YACs) and to investigate the molecular defect in patients with Hunter syndrome (MPS II). Six YAC clones were found to span the IDS gene, and those and 14 other YACs were assembled into a 1.2-Mb contig around the gene in Xq27-q28. The physical map of the region identifies several putative CpG islands, suggesting the presence of other genes in the vicinity. DNA from a patient with a translocation breakpoint in the gene also permitted the orientation of the contig in the chromosome. Southern analysis of DNA from 25 unrelated Italian Hunter syndrome patients revealed 4 with deletions or rearrangements in the IDS gene.

PMID:: 1733863; [PubMed - indexed for MEDLINE]

Publication Types, MeSH Terms, Substances

Publication Types

MeSH Terms

Substances

Iduronate Sulfatase

LinkOut - more resources

Medical

mucopolysaccharidosis type II - Genetics Home Reference

Supplemental Content

Save items

Related citations in PubMed

Frequent deletions at Xq28 indicate genetic heterogeneity in Hunter syndrome. [Hum Genet. 1991]
Frequent deletions at Xq28 indicate genetic heterogeneity in Hunter syndrome.
Wilson PJ, Suthers GK, Callen DF, Baker E, Nelson PV, Cooper A, Wraith JE, Sutherland GR, Morris CP, Hopwood JJ. Hum Genet. 1991 Mar; 86(5):505-8.
Molecular analysis of patients with Hunter syndrome: implication of a region prone to structural alterations within the IDS gene. [Hum Mol Genet. 1992]
Molecular analysis of patients with Hunter syndrome: implication of a region prone to structural alterations within the IDS gene.
Steén-Bondeson ML, Dahl N, Tönnesen T, Kleijer WJ, Seidlitz G, Gustavson KH, Wilson PJ, Morris CP, Hopwood JJ, Pettersson U. Hum Mol Genet. 1992 Jun; 1(3):195-8.
Deletion of the Hunter gene and both DXS466 and DXS304 in a patient with mucopolysaccharidosis type II. [Am J Med Genet. 1992]
Deletion of the Hunter gene and both DXS466 and DXS304 in a patient with mucopolysaccharidosis type II.
Beck M, Steglich C, Zabel B, Dahl N, Schwinger E, Hopwood JJ, Gal A. Am J Med Genet. 1992 Sep 1; 44(1):100-3.
Review Molecular basis of mucopolysaccharidosis type II: mutations in the iduronate-2-sulphatase gene. [Hum Mutat. 1993]
Review Molecular basis of mucopolysaccharidosis type II: mutations in the iduronate-2-sulphatase gene.
Hopwood JJ, Bunge S, Morris CP, Wilson PJ, Steglich C, Beck M, Schwinger E, Gal A. Hum Mutat. 1993; 2(6):435-42.
Review Hunter disease in the Spanish population: molecular analysis in 31 families. [J Inherit Metab Dis. 1998]
Review Hunter disease in the Spanish population: molecular analysis in 31 families.
Gort L, Chabás A, Coll MJ. J Inherit Metab Dis. 1998 Aug; 21(6):655-61.

See reviews... See all...

Cited by 1 PubMed Central article

Molecular diagnosis of mucopolysaccharidosis type II (Hunter syndrome) by automated sequencing and computer-assisted interpretation: toward mutation mapping of the iduronate-2-sulfatase gene. [Am J Hum Genet. 1995]
Molecular diagnosis of mucopolysaccharidosis type II (Hunter syndrome) by automated sequencing and computer-assisted interpretation: toward mutation mapping of the iduronate-2-sulfatase gene.
Jonsson JJ, Aronovich EL, Braun SE, Whitley CB. Am J Hum Genet. 1995 Mar; 56(3):597-607.

Related information

Related Citations
Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
Gene (OMIM)
Gene records associated with Online Mendelian Inheritance in Man (OMIM) records that cite the current articles in their reference lists.
Nucleotide (Weighted)
Nucleotide records associated with the current articles through the Gene database. These are the related sequences on the Gene record that are added manually by NCBI.
OMIM (calculated)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as references in the light bulb links within or in the citations at the end of the OMIM record. The references available through the light bulb link are collected using the PubMed related articles algorithm to identify records with similar terminology to the OMIM record.
OMIM (cited)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as reference cited at the end of the OMIM record.
Protein (Weighted)
Protein records associated with the current articles through related Gene database records. These are the related sequences on the Gene record that are added manually by NCBI.
Substance (MeSH Keyword)
PubChem chemical substance (submitted) records that are classified under the same Medical Subject Headings (MeSH) controlled vocabulary as the current articles.
Cited in PMC
Full-text articles in the PubMed Central Database that cite the current articles.

Recent activity

Clear Turn Off Turn On

The iduronate sulfatase gene: isolation of a 1.2-Mb YAC contig spanning the enti...
The iduronate sulfatase gene: isolation of a 1.2-Mb YAC contig spanning the entire gene and identification of heterogeneous deletions in patients with Hunter syndrome.
Genomics. 1992 Jan ;12(1):52-7.

PubMed
Percutaneous cystolithotomy of large urinary-diversion calculi using a combinati...
Percutaneous cystolithotomy of large urinary-diversion calculi using a combination of laparoscopic and endourologic techniques.
J Endourol. 2007 Feb ;21(2):155-7.

PubMed
Assessment of mental health problems in people with intellectual disabilities.
Assessment of mental health problems in people with intellectual disabilities.
Isr J Psychiatry Relat Sci. 2006 ;43(4):241-51.

PubMed
Prader-Willi or Angelman syndrome in familial 15q11----q13 deletion of maternal ...
Prader-Willi or Angelman syndrome in familial 15q11----q13 deletion of maternal origin?
Hum Genet. 1992 Jan ;88(3):361-2.

PubMed
[Photoeffects, Einstein's light quanta and the history of their acceptance].
[Photoeffects, Einstein's light quanta and the history of their acceptance].
Sudhoffs Arch. 2006 ;90(2):132-42.

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to: