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

被引：99

作者：

Conrad, C ^{[1
]}

Vianna, C ^{[1
]}

Freeman, M ^{[1
]}

Davies, P ^{[1
]}

机构：

[1] Albert Einstein Coll Med, Dept Pathol, Bronx, NY 10461 USA

来源：

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA | 2002年 / 99卷 / 11期

关键词：

D O I：

10.1073/pnas.112194599

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

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-as 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.

引用

页码：7751 / 7756

页数：6

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