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Article

DNMT3A haploinsufficiency causes dichotomous DNA methylation defects at enhancers in mature human immune cells.

The Journal of experimental medicine - 5 Jul 2021

Lim Jung-Yeon, Duttke Sascha H, Baker Turner S, Lee Jihye, Gambino Kristyne J, Venturini Nicholas J, Ho Jessica Sook Yuin, Zheng Simin, Fstkchyan Yesai S, Pillai Vinodh, Fajgenbaum David C, Marazzi Ivan, Benner Christopher, Byun Minji

Abstract excerpt

DNMT3A encodes an enzyme that carries out de novo DNA methylation, which is essential for the acquisition of cellular identity and specialized functions during cellular differentiation. DNMT3A is the most frequently mutated gene in age-related clonal hematopoiesis. As such, mature immune cells harboring DNMT3A mutations can be readily detected in elderly persons. Most DNMT3A mutations associated with clonal...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 33970190
DOI: 10.1084/jem.20202733
PMCID: PMC8111463

Genes

DNMT3A

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