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A polymorphic gene nested within an intron of the tau gene: implications for Alzheimer's disease.

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.

SUBMITTER: Conrad C

PROVIDER: S-EPMC124341 | biostudies-literature | 2002 May

REPOSITORIES: biostudies-literature

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A polymorphic gene nested within an intron of the tau gene: implications for Alzheimer's disease.

Conrad Chris C Vianna Cintia C Freeman Melissa M Davies Peter P

Proceedings of the National Academy of Sciences of the United States of America 20020501 11

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 t ...[more]

PMID: 12032355

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