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.
Publication types
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Alzheimer Disease / genetics*
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Amino Acid Sequence
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Amino Acid Substitution
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Base Sequence
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Cerebellum / metabolism
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DNA Primers
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Expressed Sequence Tags
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Humans
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Introns*
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Molecular Sequence Data
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Nerve Tissue Proteins / chemistry
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Nerve Tissue Proteins / genetics
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Neurodegenerative Diseases / genetics
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Polymerase Chain Reaction / methods
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Polymorphism, Genetic*
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Polymorphism, Single Nucleotide*
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tau Proteins / chemistry
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tau Proteins / genetics*
Substances
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DNA Primers
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Nerve Tissue Proteins
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STH protein, human
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tau Proteins