Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2
Open Access
- 8 February 2004
- journal article
- research article
- Published by Springer Nature in Nature Genetics
- Vol. 36 (3) , 225-227
- https://doi.org/10.1038/ng1303
Abstract
Ataxia-ocular apraxia 2 (AOA2) was recently identified as a new autosomal recessive ataxia. We have now identified causative mutations in 15 families, which allows us to clinically define this entity by onset between 10 and 22 years, cerebellar atrophy, axonal sensorimotor neuropathy, oculomotor apraxia and elevated alpha-fetoprotein (AFP). Ten of the fifteen mutations cause premature termination of a large DEAxQ-box helicase, the human ortholog of yeast Sen1p, involved in RNA maturation and termination.Keywords
This publication has 13 references indexed in Scilit:
- Helicases: amino acid sequence comparisons and structure-function relationshipsPublished by Elsevier ,2005
- ATM and related protein kinases: safeguarding genome integrityNature Reviews Cancer, 2003
- Mutations in the gene encoding immunoglobulin μ-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1Nature Genetics, 2001
- The role of Upf proteins in modulating the translation read-through of nonsense-containing transcriptsThe EMBO Journal, 2001
- Homozygosity mapping of spinocerebellar ataxia with cerebellar atrophy and peripheral neuropathy to 9q33–34, and with hearing impairment and optic atrophy to 6p21–23European Journal of Human Genetics, 2000
- The DNA Double-Strand Break Repair Gene hMRE11 Is Mutated in Individuals with an Ataxia-Telangiectasia-like DisorderCell, 1999
- The sen1+ Gene of Schizosaccharomyces pombe, a Homologue of Budding Yeast SEN1, Encodes an RNA and DNA HelicaseBiochemistry, 1999
- Identification of the Mouse Neuromuscular Degeneration Gene and Mapping of a Second Site Suppressor AlleleNeuron, 1998
- Familial spinocerebellar ataxia with cerebellar atrophy, peripheral neuropathy, and elevated level of serum creatine kinase, γ‐globulin, and α‐fetoproteinAnnals of Neurology, 1998
- The yeast SEN1 gene is required for the processing of diverse RNA classesNucleic Acids Research, 1997