130 kb of DNA sequence reveals two new genes and a regional duplication distal to the human iduronate-2-sulfate sulfatase locus.

Title130 kb of DNA sequence reveals two new genes and a regional duplication distal to the human iduronate-2-sulfate sulfatase locus.
Publication TypeJournal Article
Year of Publication1995
AuthorsTimms, KM, Lu, F, Shen, Y, Pierson, CA, Muzny, DM, Gu, Y, Nelson, DL, Gibbs, RA
JournalGenome Res
Volume5
Issue1
Pagination71-8
Date Published1995 Aug
ISSN1088-9051
KeywordsBase Sequence, Chromosome Walking, Chromosomes, Artificial, Yeast, Cosmids, Gene Expression, Genes, Genetic Markers, Humans, Iduronate Sulfatase, Male, Mucopolysaccharidosis II, Multigene Family, Polymerase Chain Reaction, Pseudogenes, Repetitive Sequences, Nucleic Acid, RNA, Messenger, Sequence Alignment, Transcription, Genetic, X Chromosome
Abstract

Deficiency of IDs activity results in Hunter Syndrome (mucopolysaccharidosis type II), a fatal X-linked recessive disorder. We report characterization of 28 cosmids around the IDS locus in Xq28. Four overlapping cosmids have been sequenced in their entirety generating a 130-kb contig. These studies show the fine structure of the IDS gene and identify an IDS pseudogene-like structure located 20 kb distal to the active gene. Two novel genes have also been identified in this sequence, and one of these genes is also locally duplicated. Both homologs are expressed, and a number of alternative transcript products have been characterized. The presence of a highly conserved pseudogene-like structure within a larger duplicated region close to the IDS gene has significant implications for the study of mutations at this locus.

Alternate JournalGenome Res.
PubMed ID8717057
Grant ListP30 HG00210 / HG / NHGRI NIH HHS / United States
R01 HG00823-OIAI / HG / NHGRI NIH HHS / United States