Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Specific sequence changes in multiple transcript system DYT3 are associated with X-linked dystonia parkinsonism.

Dagmar Nolte1, Stephan Niemann, Ulrich Müller

  • 1Institut für Humangenetik, Justus-Liebig-Universität, Schlangenzahl 14, 35392 Giessen, Germany.

Proceedings of the National Academy of Sciences of the United States of America
|August 21, 2003
PubMed
Summary

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Cryo-EM reveals a right-handed double-helix dimer architecture of PCDH15.

Proceedings of the National Academy of Sciences of the United States of America·2026
Same author

Risk genes in progressive supranuclear palsy (PSP) affect integrity and function of microtubules.

Frontiers in aging·2026
Same author

Precise Measurement of the Λ-Binding-Energy Difference between _{Λ}^{3}H and _{Λ}^{4}H via Decay-Pion Spectroscopy at MAMI.

Physical review letters·2026
Same author

Cryo-EM reveals a right-handed double-helix dimer architecture of PCDH15 critical for mechanotransduction.

bioRxiv : the preprint server for biology·2026
Same author

Myopathy With Exercise-Induced Intolerance due to Novel Biallelic Variants in OBSCN-A Clinical, Morphological and Molecular Analysis.

Neuropathology and applied neurobiology·2026
Same author

Basal progenitors as drivers of neocortical expansion.

Trends in neurosciences·2026

Researchers identified the gene responsible for X-linked dystonia parkinsonism (XDP), a movement disorder. A specific mutation within the DYT3 gene is likely the cause of XDP.

Area of Science:

  • Genetics
  • Neuroscience
  • Molecular Biology

Background:

  • X-linked dystonia parkinsonism (XDP) is a rare, adult-onset movement disorder.
  • XDP presents with a combination of dystonia and parkinsonism symptoms.
  • The genetic basis of XDP has been localized to the Xq13.1 region.

Purpose of the Study:

  • To delineate the specific disease gene responsible for X-linked dystonia parkinsonism (XDP).
  • To identify mutations within the Xq13.1 interval associated with XDP.
  • To characterize the novel multiple transcript system implicated in XDP pathogenesis.

Main Methods:

  • Allelic association studies to narrow down the disease locus.
  • DNA sequencing of the identified 300-kb interval in Xq13.1.

Related Experiment Videos

  • Analysis of gene structure, transcription start sites, and alternative splicing within the novel transcript system.

    • Main Results:

    • The disease gene for XDP was delineated to a 300-kb region on chromosome Xq13.1.
    • Five disease-specific single-nucleotide changes and a 48-bp deletion were identified in XDP patients.
    • A novel multiple transcript system, named DYT3, was identified, containing at least 16 exons and encoding four different transcripts.
    • A specific mutation (DSC3) within an exon common to all DYT3 transcripts is strongly implicated in XDP pathogenesis.

    Conclusions:

    • The study successfully identified the genetic locus and likely causative mutations for X-linked dystonia parkinsonism (XDP).
    • The novel DYT3 gene, with its complex transcriptional structure and alternatively spliced transcripts, is central to XDP.
    • The mutation DSC3 within DYT3 is the probable pathogenic driver of XDP.