A rare myelin protein zero (MPZ) variant alters enhancer activity in vitro and in vivo.

ABSTRACT:

Background

Myelin protein zero (MPZ) is a critical structural component of myelin in the peripheral nervous system. The MPZ gene is regulated, in part, by the transcription factors SOX10 and EGR2. Mutations in MPZ, SOX10, and EGR2 have been implicated in demyelinating peripheral neuropathies, suggesting that components of this transcriptional network are candidates for harboring disease-causing mutations (or otherwise functional variants) that affect MPZ expression.

Methodology

We utilized a combination of multi-species sequence comparisons, transcription factor-binding site predictions, targeted human DNA re-sequencing, and in vitro and in vivo enhancer assays to study human non-coding MPZ variants.

Principal findings

Our efforts revealed a variant within the first i

SUBMITTER: Antonellis A 

PROVIDER: S-EPMC3002941 | biostudies-literature | 2010 Dec

REPOSITORIES: biostudies-literature