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

摘要

A previously undescribed gene, Saitohin (STH), has been discov- ered 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-repre- sented in the homozygous state in late onset Alzheimer's disease subjects.