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Proc Natl Acad Sci U S A. 2002 May 28;99(11):7751-6.

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

Author information

1
Department of Pathology, F526, Albert Einstein College of Medicine, 1300 Morris Park Avenue, Bronx, NY 10461, USA. conrad@aecom.yu.edu

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.

PMID:
12032355
PMCID:
PMC124341
DOI:
10.1073/pnas.112194599
[Indexed for MEDLINE]
Free PMC Article

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