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Article

Intronic PAH gene mutations cause a splicing defect by a novel mechanism involving U1snRNP binding downstream of the 5' splice site.

PLoS genetics - 1 Apr 2018

Martínez-Pizarro Ainhoa, Dembic Maja, Pérez Belén, Andresen Brage S, Desviat Lourdes R

Abstract excerpt

Phenylketonuria (PKU), one of the most common inherited diseases of amino acid metabolism, is caused by mutations in the phenylalanine hydroxylase (PAH) gene. Recently, PAH exon 11 was identified as a vulnerable exon due to a weak 3' splice site, with different exonic mutations affecting exon 11 splicing through disruption of exonic splicing regulatory elements. In this study, we report a novel intron 11...

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Identifiers

PMID: 29684050
DOI: 10.1371/journal.pgen.1007360
PMCID: PMC5933811

Genes

PAH

Provenance

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Intronic PAH gene mutations cause a splicing defect by a novel mechanism involving U1snRNP binding downstream of the 5' splice site.PMID 29684050Read ↗

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Splice, insertion-deletion and nonsense mutations that perturb the phenylalanine hydroxylase transcript cause phenylketonuria in India.Semantic proximity Read ↗

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