The TOR1A (DYT1) Gene Family and Its Role in Early Onset Torsion Dystonia
| Autor: | Mitchell F. Brin, Joanne Leung, Susan B. Bressman, Deborah de Leon, Curtis E. Page, David P. Corey, Christo Shalish, Jeffrey W. Hewett, Laurie J. Ozelius, Christine Klein, Mari Mineta, Xandra O. Breakefield, Stanley Fahn |
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| Rok vydání: | 1999 |
| Předmět: |
Adult
Adolescent Databases Factual Genotype DNA Mutational Analysis Dystonia Musculorum Deformans Late onset Biology Homology (biology) Exon Species Specificity Gene mapping Genetics Animals Humans Coding region Gene family Age of Onset Child Gene Phylogeny Aged Sequence Homology Amino Acid Chromosome Mapping Exons Founder Effect Introns Child Preschool Multigene Family Chromosomal region Carrier Proteins Chromosomes Human Pair 9 Molecular Chaperones |
| Zdroj: | Genomics. 62:377-384 |
| ISSN: | 0888-7543 |
| Popis: | 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 hu- man chromosome 9q34. Both genes comprise five sim- ilar exons; each gene spans a 10-kb region. Mutational analysis of most of the coding region and splice junc- tions of TOR1A and TOR1B did not reveal additional mutations in typical early onset cases lacking the GAG deletion (N 5 17), in dystonic individuals with appar- ent homozygosity in the 9q34 chromosomal region (N 5 5), or in a representative Ashkenazic Jewish in- dividual with late onset dystonia, who shared a com- mon 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% simi- larity) and their orthologues in species including hu- man, mouse, rat, pig, zebrafish, fruitfly, and nematode. At least four of these genes occur in the human ge- nome. Proteins encoded by this gene family share functional domains with the AAA/HSP/Clp-ATPase su- perfamily of chaperone-like proteins, but appear to represent a distinct evolutionary branch. © 1999 Academic |
| Databáze: | OpenAIRE |
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