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

Proc Natl Acad Sci U S A. 2002 May 28;99(11):7751-6. doi: 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 Alzheimer's disease subjects.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Alzheimer Disease / genetics*
  • Amino Acid Sequence
  • Amino Acid Substitution
  • Base Sequence
  • Cerebellum / metabolism
  • DNA Primers
  • Expressed Sequence Tags
  • Humans
  • Introns*
  • Molecular Sequence Data
  • Nerve Tissue Proteins / chemistry
  • Nerve Tissue Proteins / genetics
  • Neurodegenerative Diseases / genetics
  • Polymerase Chain Reaction / methods
  • Polymorphism, Genetic*
  • Polymorphism, Single Nucleotide*
  • tau Proteins / chemistry
  • tau Proteins / genetics*

Substances

  • DNA Primers
  • Nerve Tissue Proteins
  • STH protein, human
  • tau Proteins

Associated data

  • GENBANK/AA325304