A polymorphic gene nested within an intron of the tau gene: Implications for Alzheimer's disease
Open Access
- 14 May 2002
- journal article
- research article
- Published by Proceedings of the National Academy of Sciences in Proceedings of the National Academy of Sciences
- Vol. 99 (11) , 7751-7756
- https://doi.org/10.1073/pnas.112194599
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 Alzheimer9s disease subjects.Keywords
This publication has 22 references indexed in Scilit:
- Enhanced Neurofibrillary Degeneration in Transgenic Mice Expressing Mutant Tau and APPScience, 2001
- The genetics of late-onset Alzheimerʼs diseaseCurrent Opinion in Neurology, 2001
- From Genome to FunctionScience, 2001
- Tau protein isoforms, phosphorylation and role in neurodegenerative disorders11These authors contributed equally to this work.Brain Research Reviews, 2000
- A polymorphism in the tau gene associated with risk for Alzheimer's diseaseNeuroscience Letters, 2000
- Tau gene polymorphisms and apolipoprotein E ε4 may interact to increase risk for Alzheimer’s diseaseNeuroscience Letters, 1999
- No genetic association between polymorphisms in the Tau gene and Alzheimer's disease in clinic or population based samplesNeuroscience Letters, 1999
- Gapped BLAST and PSI-BLAST: a new generation of protein database search programsNucleic Acids Research, 1997
- τ Is Widely Expressed in Rat TissuesJournal of Neurochemistry, 1996
- Apolipoprotein E genotyping by one-stage PCRThe Lancet, 1991