Polymorphism in the PER3 promoter associates with diurnal preference and delayed sleep phase disorder.

ABSTRACT:

Study objectives

To screen the PER3 promoter for polymorphisms and investigate the phenotypic associations of these polymorphisms with diurnal preference, delayed sleep phase disorder/syndrome (DSPD/DSPS), and their effects on reporter gene expression.

Design

Interspecific comparison was used to define the approximate extent of the PER3 promoter as the region between the transcriptional start site and nucleotide position -874. This region was screened in DNA pools using PCR and direct sequencing, which was also used to screen DNA from individual participants. The different promoter alleles were cloned into a luciferase expression vector and a deletion library created. Promoter activation was measured by chemiluminescence.

Setting

N/A.

Patients or participants

D

SUBMITTER: Archer SN 

PROVIDER: S-EPMC2864885 | biostudies-literature | 2010 May

REPOSITORIES: biostudies-literature