Constrained chromatin accessibility in PU.1-mutated agammaglobulinemia patients.

doi:10.1084/jem.20201750

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Article

Constrained chromatin accessibility in PU.1-mutated agammaglobulinemia patients.

The Journal of experimental medicine - 5 Jul 2021

Le Coz Carole, Nguyen David N, Su Chun, Nolan Brian E, Albrecht Amanda V, Xhani Suela, Sun Di, Demaree Benjamin, Pillarisetti Piyush, Khanna Caroline, Wright Francis, Chen Peixin Amy, Yoon Samuel, Stiegler Amy L, Maurer Kelly, Garifallou James P, Rymaszewski Amy, Kroft Steven H, Olson Timothy S, Seif Alix E, Wertheim Gerald, Grant Struan F A, Vo Linda T, Puck Jennifer M, Sullivan Kathleen E, Routes John M, Zakharova Viktoria, Shcherbina Anna, Mukhina Anna, Rudy Natasha L, Hurst Anna C E, Atkinson T Prescott, Boggon Titus J, Hakonarson Hakon, Abate Adam R, Hajjar Joud, Nicholas Sarah K, Lupski James R, Verbsky James, Chinn Ivan K, Gonzalez Michael V, Wells Andrew D, Marson Alex, Poon Gregory M K, Romberg Neil

Abstract excerpt

The pioneer transcription factor (TF) PU.1 controls hematopoietic cell fate by decompacting stem cell heterochromatin and allowing nonpioneer TFs to enter otherwise inaccessible genomic sites. PU.1 deficiency fatally arrests lymphopoiesis and myelopoiesis in mice, but human congenital PU.1 disorders have not previously been described. We studied six unrelated agammaglobulinemic patients, each harboring a...

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Identifiers

PMID: 33951726
DOI: 10.1084/jem.20201750
PMCID: PMC8105723

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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