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Specific sequence changes in multiple transcript system DYT3 are associated with X-linked dystonia parkinsonism
- Source :
- Proceedings of the National Academy of Sciences. 100:10347-10352
- Publication Year :
- 2003
- Publisher :
- Proceedings of the National Academy of Sciences, 2003.
-
Abstract
- X-linked dystonia parkinsonism (XDP) is an X-linked recessive adult onset movement disorder characterized by both dystonia and parkinsonism. We report delineation of the disease gene within a 300-kb interval of Xq13.1 by allelic association. Sequencing of this region in a patient revealed five disease-specific single-nucleotide changes (here referred to as DSC) and a 48-bp deletion unique to XDP. One of the DSCs is located within an exon of a not previously described multiple transcript system that is composed of at least 16 exons. There is a minimum of three different transcription start sites that encode four different transcripts. Two of these transcripts include distal portions of the TAF1 gene (TATA-box binding protein-associated factor 1) and are alternatively spliced. Three exons overlap with ING2 (a putative tumor suppressor) and with a homologue of CIS4 (cytokine-inducible SH2 protein 4), both of which are encoded by the opposite strand. Although all DSCs are located within this multiple transcript system, only DSC3 lies within an exon. This exon is used by all alternative transcripts making a pathogenic role of DSC3 in XDP likely. The multiple transcript system is therefore referred to as DYT3 (disease locus in XDP).
- Subjects :
- Adult
Male
Saccharomyces cerevisiae Proteins
Genetic Linkage
Molecular Sequence Data
Locus (genetics)
Biology
X-Linked Dystonia Parkinsonism
Polymorphism, Single Nucleotide
Exon
Parkinsonian Disorders
medicine
Humans
Allele
Gene
Dystonia
Genetics
Chromosomes, Human, X
Multidisciplinary
Base Sequence
Reverse Transcriptase Polymerase Chain Reaction
Parkinsonism
Haplotype
Membrane Transport Proteins
DNA
Biological Sciences
medicine.disease
Molecular biology
Haplotypes
Female
Subjects
Details
- ISSN :
- 10916490 and 00278424
- Volume :
- 100
- Database :
- OpenAIRE
- Journal :
- Proceedings of the National Academy of Sciences
- Accession number :
- edsair.doi.dedup.....5f4b1c884ef097d1157c83643b09d928