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Article

Loss of exon identity is a common mechanism of human inherited disease.

Genome research - 1 Oct 2011

Sterne-Weiler Timothy, Howard Jonathan, Mort Matthew, Cooper David N, Sanford Jeremy R

Abstract excerpt

It is widely accepted that at least 10% of all mutations causing human inherited disease disrupt splice-site consensus sequences. In contrast to splice-site mutations, the role of auxiliary cis-acting elements such as exonic splicing enhancers (ESE) and exonic splicing silencers (ESS) in human inherited disease is still poorly understood. Here we use a top-down approach to determine rates of loss or gain of known...

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Identifiers

PMID: 21750108
DOI: 10.1101/gr.118638.110
PMCID: PMC3202274

Genes

PTBP1
SRSF3

Provenance

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