PMID- 10644435
OWN - NLM
STAT- MEDLINE
DCOM- 20000302
LR  - 20191231
IS  - 0888-7543 (Print)
IS  - 0888-7543 (Linking)
VI  - 62
IP  - 3
DP  - 1999 Dec 15
TI  - The TOR1A (DYT1) gene family and its role in early onset torsion dystonia.
PG  - 377-84
AB  - Most cases of early onset torsion dystonia are caused by a 3-bp deletion (GAG) in
      the coding region of the TOR1A gene (alias DYT1, DQ2), resulting in loss of a
      glutamic acid in the carboxy terminal of the encoded protein, torsin A. TOR1A and
      its homologue TOR1B (alias DQ1) are located adjacent to each other on human
      chromosome 9q34. Both genes comprise five similar exons; each gene spans a 10-kb 
      region. Mutational analysis of most of the coding region and splice junctions of 
      TOR1A and TOR1B did not reveal additional mutations in typical early onset cases 
      lacking the GAG deletion (N = 17), in dystonic individuals with apparent
      homozygosity in the 9q34 chromosomal region (N = 5), or in a representative
      Ashkenazic Jewish individual with late onset dystonia, who shared a common
      haplotype in the 9q34 region with other late onset individuals in this ethnic
      group. A database search revealed a family of nine related genes (50-70%
      similarity) and their orthologues in species including human, mouse, rat, pig,
      zebrafish, fruitfly, and nematode. At least four of these genes occur in the
      human genome. Proteins encoded by this gene family share functional domains with 
      the AAA/HSP/Clp-ATPase superfamily of chaperone-like proteins, but appear to
      represent a distinct evolutionary branch.
CI  - Copyright 1999 Academic Press.
FAU - Ozelius, L J
AU  - Ozelius LJ
AD  - Molecular Neurogenetics Unit, Massachusetts General Hospital, Boston,
      Massachusetts 02114, USA.
FAU - Page, C E
AU  - Page CE
FAU - Klein, C
AU  - Klein C
FAU - Hewett, J W
AU  - Hewett JW
FAU - Mineta, M
AU  - Mineta M
FAU - Leung, J
AU  - Leung J
FAU - Shalish, C
AU  - Shalish C
FAU - Bressman, S B
AU  - Bressman SB
FAU - de Leon, D
AU  - de Leon D
FAU - Brin, M F
AU  - Brin MF
FAU - Fahn, S
AU  - Fahn S
FAU - Corey, D P
AU  - Corey DP
FAU - Breakefield, X O
AU  - Breakefield XO
LA  - eng
GR  - NS28384/NS/NINDS NIH HHS/United States
GR  - NS37409/NS/NINDS NIH HHS/United States
GR  - NS381424/NS/NINDS NIH HHS/United States
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Genomics
JT  - Genomics
JID - 8800135
RN  - 0 (Carrier Proteins)
RN  - 0 (Dyt1 protein, mouse)
RN  - 0 (Molecular Chaperones)
RN  - 0 (TOR1A protein, human)
RN  - 0 (TOR1B protein, human)
RN  - 0 (Tor1a protein, rat)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Age of Onset
MH  - Aged
MH  - Animals
MH  - Carrier Proteins/*genetics
MH  - Child
MH  - Child, Preschool
MH  - Chromosome Mapping
MH  - Chromosomes, Human, Pair 9/genetics
MH  - DNA Mutational Analysis
MH  - Databases, Factual
MH  - Dystonia Musculorum Deformans/epidemiology/*genetics
MH  - Exons/genetics
MH  - Founder Effect
MH  - Genotype
MH  - Humans
MH  - Introns/genetics
MH  - *Molecular Chaperones
MH  - Multigene Family/*genetics
MH  - Phylogeny
MH  - Sequence Homology, Amino Acid
MH  - Species Specificity
EDAT- 2000/01/25 09:00
MHDA- 2000/03/04 09:00
CRDT- 2000/01/25 09:00
PHST- 2000/01/25 09:00 [pubmed]
PHST- 2000/03/04 09:00 [medline]
PHST- 2000/01/25 09:00 [entrez]
AID - 10.1006/geno.1999.6039 [doi]
AID - S0888-7543(99)96039-1 [pii]
PST - ppublish
SO  - Genomics. 1999 Dec 15;62(3):377-84. doi: 10.1006/geno.1999.6039.