A polymorphic gene nested within an intron of the tau gene: Implications for Alzheimer's disease
Copyright policy )A polymorphic gene nested within an intron of the tau gene: Implications for Alzheimer's disease
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.
- Albert Einstein College of Medicine United States
Expressed Sequence Tags, Polymorphism, Genetic, Base Sequence, Molecular Sequence Data, Nerve Tissue Proteins, Neurodegenerative Diseases, tau Proteins, Polymerase Chain Reaction, Polymorphism, Single Nucleotide, Introns, Amino Acid Substitution, Alzheimer Disease, Cerebellum, Humans, Amino Acid Sequence, DNA Primers
Expressed Sequence Tags, Polymorphism, Genetic, Base Sequence, Molecular Sequence Data, Nerve Tissue Proteins, Neurodegenerative Diseases, tau Proteins, Polymerase Chain Reaction, Polymorphism, Single Nucleotide, Introns, Amino Acid Substitution, Alzheimer Disease, Cerebellum, Humans, Amino Acid Sequence, DNA Primers
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