A polymorphic gene nested within an intron of the tau gene: implications for Alzheimer's disease.
case_control · Level III
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- Record sourced from PubMed, PMID 12032355.
- Also identified by PMC identifier 124341.
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Abstract
A previously undescribed gene, Saitohin (STH), has been discovered in the intron between exons 9 and 10 of the human tau gene. STH is an intronless gene that encodes a 128-aa protein with no clear homologs. The tissue expression of STH is similar to tau, a gene that is implicated in many neurodegenerative disorders. In humans, a single nucleotide polymorphism that results in an amino acid change (Q7R) has been identified in STH and was used in a case control study. The Q7R polymorphism appears to be over-represented in the homozygous state in late onset Alzheimer's disease subjects.
Medical subject headings
- Alzheimer Disease
- Introns
- Polymorphism, Genetic
- Polymorphism, Single Nucleotide
- tau Proteins