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Article

Features of 5'-splice-site efficiency derived from disease-causing mutations and comparative genomics.

Genome research - 1 Jan 2008

Roca Xavier, Olson Andrew J, Rao Atmakuri R, Enerly Espen, Kristensen Vessela N, Børresen-Dale Anne-Lise, Andresen Brage S, Krainer Adrian R, Sachidanandam Ravi

Abstract excerpt

Many human diseases, including Fanconi anemia, hemophilia B, neurofibromatosis, and phenylketonuria, can be caused by 5'-splice-site (5'ss) mutations that are not predicted to disrupt splicing, according to position weight matrices. By using comparative genomics, we identify pairwise dependencies between 5'ss nucleotides as a conserved feature of the entire set of 5'ss. These dependencies are also conserved in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Polymorphism, Single Nucleotide

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Source

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Identifiers

PMID: 18032726
DOI: 10.1101/gr.6859308
PMCID: PMC2134769

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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