Heritability in the efficiency of nonsense-mediated mRNA decay in humans.

ABSTRACT:

Background

In eukaryotes mRNA transcripts of protein-coding genes in which an intron has been retained in the coding region normally result in premature stop codons and are therefore degraded through the nonsense-mediated mRNA decay (NMD) pathway. There is evidence in the form of selective pressure for in-frame stop codons in introns and a depletion of length three introns that this is an important and conserved quality-control mechanism. Yet recent reports have revealed that the efficiency of NMD varies across tissues and between individuals, with important clinical consequences.

Principal findings

Using previously published Affymetrix exon microarray data from cell lines genotyped as part of the International HapMap project, we investigated whether there are heritable, int

SUBMITTER: Seoighe C 

PROVIDER: S-EPMC2908117 | biostudies-literature | 2010 Jul

REPOSITORIES: biostudies-literature