Conservation in first introns is positively associated with the number of exons within genes and the presence of regulatory epigenetic signals.

ABSTRACT:

Background

Genomes of higher eukaryotes have surprisingly long first introns and in some cases, the first introns have been shown to have higher conservation relative to other introns. However, the functional relevance of conserved regions in the first introns is poorly understood. Leveraging the recent ENCODE data, here we assess potential regulatory roles of conserved regions in the first intron of human genes.

Results

We first show that relative to other downstream introns, the first introns are enriched for blocks of highly conserved sequences. We also found that the first introns are enriched for several chromatin marks indicative of active regulatory regions and this enrichment of regulatory marks is correlated with enrichment of conserved blocks in the first intron; t

SUBMITTER: Park SG 

PROVIDER: S-EPMC4085337 | biostudies-literature | 2014 Jun

REPOSITORIES: biostudies-literature