Differential effects of a polyalanine tract expansion in Arx on neural development and gene expression.

ABSTRACT: Polyalanine (poly-A) tracts exist in 494 annotated proteins; to date, expansions in these tracts have been associated with nine human diseases. The pathogenetic mechanism by which a poly-A tract results in these various human disorders remains uncertain. To understand the role of this mutation type, we investigated the change in functional properties of the transcription factor Arx when it has an expanded poly-A tract (Arx(E)), a mutation associated with infantile spasms and intellectual disabilities in humans. We found that although Arx(E) functions normally in the dorsal brain, its function in subpallial-derived populations of neurons is compromised. These contrasting functions are associated with the misregulation of Arx targets through the loss of the ability of Arx(E) to interact with

SUBMITTER: Nasrallah MP 

PROVIDER: S-EPMC3277309 | biostudies-literature | 2012 Mar

REPOSITORIES: biostudies-literature