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Article

Dissection of epistasis in oligogenic Bardet-Biedl syndrome.

Nature - 19 Jan 2006

Badano Jose L, Leitch Carmen C, Ansley Stephen J, May-Simera Helen, Lawson Shaneka, Lewis Richard Alan, Beales Philip L, Dietz Harry C, Fisher Shannon, Katsanis Nicholas

Abstract excerpt

Epistatic interactions have an important role in phenotypic variability, yet the genetic dissection of such phenomena remains challenging. Here we report the identification of a novel locus, MGC1203, that contributes epistatic alleles to Bardet-Biedl syndrome (BBS), a pleiotropic, oligogenic disorder. MGC1203 encodes a pericentriolar protein that interacts and colocalizes with the BBS proteins. Sequencing of two...

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PMID: 16327777
DOI: 10.1038/nature04370

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Dissection of epistasis in oligogenic Bardet-Biedl syndrome.PMID 16327777Read ↗

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Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease.Semantic proximity Read ↗

Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome.Semantic proximity Read ↗

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Clinical and Genetic Characterization of a Russian Family with Bardet-Biedl Syndrome Carrying a Previously Undescribed Missense Variant and a Recurrent Pathogenic Frameshift Variant in BBS7 Gene.Semantic proximity Read ↗

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