Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation.

doi:10.1016/j.ajhg.2016.11.011

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Article

Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation.

American journal of human genetics - 5 Jan 2017

Yan Kezhi, Rousseau Justine, Littlejohn Rebecca Okashah, Kiss Courtney, Lehman Anna, Rosenfeld Jill A, Stumpel Constance T R, Stegmann Alexander P A, Robak Laurie, Scaglia Fernando, Nguyen Thi Tuyet Mai, Fu He, Ajeawung Norbert F, Camurri Maria Vittoria, Li Lin, Gardham Alice, Panis Bianca, Almannai Mohammed, Sacoto Maria J Guillen, Baskin Berivan, Ruivenkamp Claudia, Xia Fan, Bi Weimin, Cho Megan T, Potjer Thomas P, Santen Gijs W E, Parker Michael J, Canham Natalie, McKinnon Margaret, Potocki Lorraine, MacKenzie Jennifer J, Roeder Elizabeth R, Campeau Philippe M, Yang Xiang-Jiao

Abstract excerpt

Identification of over 500 epigenetic regulators in humans raises an interesting question regarding how chromatin dysregulation contributes to different diseases. Bromodomain and PHD finger-containing protein 1 (BRPF1) is a multivalent chromatin regulator possessing three histone-binding domains, one non-specific DNA-binding module, and several motifs for interacting with and activating three lysine...

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Identifiers

PMID: 27939640
DOI: 10.1016/j.ajhg.2016.11.011
PMCID: PMC5223032

Genes

BRPF1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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