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Analysis of a genetic defect in the TATA box of theSOD1 gene in a patient with familial amyotrophic lateral sclerosis
- Source :
- Muscle & Nerve. 36:704-707
- Publication Year :
- 2007
- Publisher :
- Wiley, 2007.
-
Abstract
- We report a patient with autosomal-dominant amyotrophic lateral sclerosis (ALS) and a sequence variation in the SOD1 promoter region, located in the conserved TATA box motif (TATAAA→TGTAAA). Functional promoter studies of this variant in an in vitro system showed moderate reduction in transcriptional activity of SOD1. This variant was present in only two of 301 individuals with sporadic amyotrophic lateral sclerosis, was not detected in 396 matched controls, and was recently reported in dbSNP (rs7277748). Our data suggest that this TATA box defect is not a disease-causing mutation or susceptibility factor for ALS but rather a rare polymorphism with a potential effect on SOD1 gene expression. Muscle Nerve, 2007
- Subjects :
- Male
dbSNP
Physiology
TATA box
DNA Mutational Analysis
Molecular Sequence Data
SOD1
Biology
Cellular and Molecular Neuroscience
Superoxide Dismutase-1
Degenerative disease
Physiology (medical)
Gene expression
medicine
Humans
Amyotrophic lateral sclerosis
Gene
Family Health
Genetics
Superoxide Dismutase
Amyotrophic Lateral Sclerosis
Promoter
Middle Aged
medicine.disease
TATA Box
Neurology (clinical)
Subjects
Details
- ISSN :
- 10974598 and 0148639X
- Volume :
- 36
- Database :
- OpenAIRE
- Journal :
- Muscle & Nerve
- Accession number :
- edsair.doi.dedup.....694b5b7dbf54ccbd2d7c7e866d49ba67