The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein

Laurie J. Ozelius, Jeffrey W. Hewett, Curtis E. Page, Susan B. Bressman, Patricia L. Kramer, Christo Shalish, Deborah De Leon, Mitchell F. Brin, Deborah Raymond, David P. Corey, Stanley Fahn, Neil J. Risch, Alan J. Buckler, James F. Gusella, Xandra O. Breakefield

Research output: Contribution to journalArticle

780 Citations (Scopus)

Abstract

Early-onset torsion dystonia is a movement disorder, characterized by twisting muscle contractures, that begins in childhood. Symptoms are believed to result from altered neuronal communication in the basal ganglia. This study identifies the DYT1 gene on human chromosome 9q34 as being responsible for this dominant disease. Almost all cases of early-onset dystonia have a unique 3-bp deletion that appears to have arisen independently in different ethnic populations. This deletion results in loss of one of a pair of glutamic-acid residues in a conserved region of a novel ATP-binding protein, termed torsinA. This protein has homologues in nematode, rat, mouse and humans, with some resemblance to the family of heat-shock proteins and Clp proteases.

Original languageEnglish (US)
Pages (from-to)40-48
Number of pages9
JournalNature Genetics
Volume17
Issue number1
DOIs
StatePublished - 1997

Fingerprint

Endopeptidase Clp
Nippostrongylus
Dystonia
Movement Disorders
Human Chromosomes
Contracture
Heat-Shock Proteins
Basal Ganglia
Glutamic Acid
Carrier Proteins
Adenosine Triphosphate
Communication
Muscles
Population
Genes
Proteins
Dystonia musculorum deformans type 1

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Ozelius, L. J., Hewett, J. W., Page, C. E., Bressman, S. B., Kramer, P. L., Shalish, C., ... Breakefield, X. O. (1997). The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Nature Genetics, 17(1), 40-48. https://doi.org/10.1038/ng0997-40

The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. / Ozelius, Laurie J.; Hewett, Jeffrey W.; Page, Curtis E.; Bressman, Susan B.; Kramer, Patricia L.; Shalish, Christo; De Leon, Deborah; Brin, Mitchell F.; Raymond, Deborah; Corey, David P.; Fahn, Stanley; Risch, Neil J.; Buckler, Alan J.; Gusella, James F.; Breakefield, Xandra O.

In: Nature Genetics, Vol. 17, No. 1, 1997, p. 40-48.

Research output: Contribution to journalArticle

Ozelius, LJ, Hewett, JW, Page, CE, Bressman, SB, Kramer, PL, Shalish, C, De Leon, D, Brin, MF, Raymond, D, Corey, DP, Fahn, S, Risch, NJ, Buckler, AJ, Gusella, JF & Breakefield, XO 1997, 'The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein', Nature Genetics, vol. 17, no. 1, pp. 40-48. https://doi.org/10.1038/ng0997-40
Ozelius LJ, Hewett JW, Page CE, Bressman SB, Kramer PL, Shalish C et al. The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Nature Genetics. 1997;17(1):40-48. https://doi.org/10.1038/ng0997-40
Ozelius, Laurie J. ; Hewett, Jeffrey W. ; Page, Curtis E. ; Bressman, Susan B. ; Kramer, Patricia L. ; Shalish, Christo ; De Leon, Deborah ; Brin, Mitchell F. ; Raymond, Deborah ; Corey, David P. ; Fahn, Stanley ; Risch, Neil J. ; Buckler, Alan J. ; Gusella, James F. ; Breakefield, Xandra O. / The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. In: Nature Genetics. 1997 ; Vol. 17, No. 1. pp. 40-48.
@article{54d9403027e141b78f3769bcaef897af,
title = "The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein",
abstract = "Early-onset torsion dystonia is a movement disorder, characterized by twisting muscle contractures, that begins in childhood. Symptoms are believed to result from altered neuronal communication in the basal ganglia. This study identifies the DYT1 gene on human chromosome 9q34 as being responsible for this dominant disease. Almost all cases of early-onset dystonia have a unique 3-bp deletion that appears to have arisen independently in different ethnic populations. This deletion results in loss of one of a pair of glutamic-acid residues in a conserved region of a novel ATP-binding protein, termed torsinA. This protein has homologues in nematode, rat, mouse and humans, with some resemblance to the family of heat-shock proteins and Clp proteases.",
author = "Ozelius, {Laurie J.} and Hewett, {Jeffrey W.} and Page, {Curtis E.} and Bressman, {Susan B.} and Kramer, {Patricia L.} and Christo Shalish and {De Leon}, Deborah and Brin, {Mitchell F.} and Deborah Raymond and Corey, {David P.} and Stanley Fahn and Risch, {Neil J.} and Buckler, {Alan J.} and Gusella, {James F.} and Breakefield, {Xandra O.}",
year = "1997",
doi = "10.1038/ng0997-40",
language = "English (US)",
volume = "17",
pages = "40--48",
journal = "Nature Genetics",
issn = "1061-4036",
publisher = "Nature Publishing Group",
number = "1",

}

TY - JOUR

T1 - The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein

AU - Ozelius, Laurie J.

AU - Hewett, Jeffrey W.

AU - Page, Curtis E.

AU - Bressman, Susan B.

AU - Kramer, Patricia L.

AU - Shalish, Christo

AU - De Leon, Deborah

AU - Brin, Mitchell F.

AU - Raymond, Deborah

AU - Corey, David P.

AU - Fahn, Stanley

AU - Risch, Neil J.

AU - Buckler, Alan J.

AU - Gusella, James F.

AU - Breakefield, Xandra O.

PY - 1997

Y1 - 1997

N2 - Early-onset torsion dystonia is a movement disorder, characterized by twisting muscle contractures, that begins in childhood. Symptoms are believed to result from altered neuronal communication in the basal ganglia. This study identifies the DYT1 gene on human chromosome 9q34 as being responsible for this dominant disease. Almost all cases of early-onset dystonia have a unique 3-bp deletion that appears to have arisen independently in different ethnic populations. This deletion results in loss of one of a pair of glutamic-acid residues in a conserved region of a novel ATP-binding protein, termed torsinA. This protein has homologues in nematode, rat, mouse and humans, with some resemblance to the family of heat-shock proteins and Clp proteases.

AB - Early-onset torsion dystonia is a movement disorder, characterized by twisting muscle contractures, that begins in childhood. Symptoms are believed to result from altered neuronal communication in the basal ganglia. This study identifies the DYT1 gene on human chromosome 9q34 as being responsible for this dominant disease. Almost all cases of early-onset dystonia have a unique 3-bp deletion that appears to have arisen independently in different ethnic populations. This deletion results in loss of one of a pair of glutamic-acid residues in a conserved region of a novel ATP-binding protein, termed torsinA. This protein has homologues in nematode, rat, mouse and humans, with some resemblance to the family of heat-shock proteins and Clp proteases.

UR - http://www.scopus.com/inward/record.url?scp=16944366666&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=16944366666&partnerID=8YFLogxK

U2 - 10.1038/ng0997-40

DO - 10.1038/ng0997-40

M3 - Article

C2 - 9288096

AN - SCOPUS:16944366666

VL - 17

SP - 40

EP - 48

JO - Nature Genetics

JF - Nature Genetics

SN - 1061-4036

IS - 1

ER -