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Function
Peregrin (BRPF1) is a chromatin regulator and plays a scaffolding role in transcription. It is essential for development of fetal hematopoietic stem cells[1].
Disease
Mutations in BRPF1 cause intellectual disability and deficient histone acetylation[2].
Relevance
Structural highlights
BRPF1 consists of 2 PHD fingers, bromodomain and a PWWP domain for recognizing multiple histone modifications[3].
- ↑ You L, Li L, Zou J, Yan K, Belle J, Nijnik A, Wang E, Yang XJ. BRPF1 is essential for development of fetal hematopoietic stem cells. J Clin Invest. 2016 Sep 1;126(9):3247-62. doi: 10.1172/JCI80711. Epub 2016 Aug 8. PMID:27500495 doi:https://dx.doi.org/10.1172/JCI80711
- ↑ Yan K, Rousseau J, Littlejohn RO, Kiss C, Lehman A, Rosenfeld JA, Stumpel CT, Stegmann AP, Robak L, Scaglia F, Nguyen TT, Fu H, Ajeawung NF, Camurri MV, Li L, Gardham A, Panis B, Almannai M, Sacoto MJ, Baskin B, Ruivenkamp C, Xia F, Bi W, Cho MT, Potjer TP, Santen GW, Parker MJ, Canham N, McKinnon M, Potocki L, MacKenzie JJ, Roeder ER, Campeau PM, Yang XJ. Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation. Am J Hum Genet. 2017 Jan 5;100(1):91-104. doi: 10.1016/j.ajhg.2016.11.011. Epub, 2016 Dec 8. PMID:27939640 doi:https://dx.doi.org/10.1016/j.ajhg.2016.11.011
- ↑ You L, Yan K, Zou J, Zhao H, Bertos NR, Park M, Wang E, Yang XJ. The chromatin regulator Brpf1 regulates embryo development and cell proliferation. J Biol Chem. 2015 May 1;290(18):11349-64. doi: 10.1074/jbc.M115.643189. Epub 2015, Mar 15. PMID:25773539 doi:https://dx.doi.org/10.1074/jbc.M115.643189
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