A polymorphic gene nested within an intron of the tau gene: implications for Alzheimer's disease.
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.
Conrad
Chris
C
Department of Pathology, F526, Albert Einstein College of Medicine, 1300 Morris Park Avenue, Bronx, NY 10461, USA. conrad@aecom.yu.edu
Vianna
Cintia
C
Freeman
Melissa
M
Davies
Peter
P
D000544:Alzheimer Disease / Q000235:genetics*; D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D001483:Base Sequence; D002531:Cerebellum / Q000378:metabolism; D017931:DNA Primers; D020224:Expressed Sequence Tags; D006801:Humans; D007438:Introns; D008969:Molecular Sequence Data; D009419:Nerve Tissue Proteins / Q000737:chemistry / Q000235:genetics; D019636:Neurodegenerative Diseases / Q000235:genetics; D016133:Polymerase Chain Reaction / Q000379:methods; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide; D016875:tau Proteins / Q000737:chemistry / Q000235:genetics*
D017931:DNA Primers; D009419:Nerve Tissue Proteins; C458340:STH protein, human; D016875:tau Proteins