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Functional MAPT haplotypes: bridging the gap between genotype and neuropathology.

Abstract：

:The microtubule-associated protein tau (MAPT) locus has long been associated with sporadic neurodegenerative disease, notably progressive supranuclear palsy and corticobasal degeneration, and more recently with Alzheimer's disease and Parkinson's disease. However, the functional biological mechanisms behind the genetic association have only now started to emerge. The genomic architecture in the region spanning MAPT is highly complex, and includes a approximately 1.8 Mb block of linkage disequilibrium (LD). The region is divided into two major haplotypes, H1 and H2, defined by numerous single nucleotide polymorphisms and a 900 kb inversion which suppresses recombination. Fine mapping of the MAPT region has identified sub-clades of the MAPT H1 haplotype which are specifically associated with neurodegenerative disease. Here we briefly review the role of MAPT in sporadic and familial neurodegenerative disease, and then discuss recent work which, for the first time, proposes functional mechanisms to link MAPT haplotypes with the neuropathology seen in patients.

journal_name

Neurobiol Dis

journal_title

Neurobiology of disease

authors

Caffrey TM,Wade-Martins R

doi

10.1016/j.nbd.2007.04.006

subject

Has Abstract

pub_date

2007-07-01 00:00:00

pages

1-10

issue

1

eissn

0969-9961

issn

1095-953X

pii

S0969-9961(07)00094-0

journal_volume

27

pub_type

杂志文章,评审

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