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Mutations in the Chromatin Regulator Gene BRPF1...
Journal article

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

Abstract

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 acetyltransferases. Genetic analyses of fish …

Authors

Yan K; Rousseau J; Littlejohn RO; Kiss C; Lehman A; Rosenfeld JA; Stumpel CTR; Stegmann APA; Robak L; Scaglia F

Journal

American Journal of Human Genetics, Vol. 100, No. 1, pp. 91–104

Publisher

Elsevier

Publication Date

1 2017

DOI

10.1016/j.ajhg.2016.11.011

ISSN

0002-9297