A distal single nucleotide polymorphism alters long-range regulation of the PU.1 gene in acute myeloid leukemia.

doi:10.1172/JCI30525

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Article

A distal single nucleotide polymorphism alters long-range regulation of the PU.1 gene in acute myeloid leukemia.

The Journal of clinical investigation - 1 Sept 2007

Steidl Ulrich, Steidl Christian, Ebralidze Alexander, Chapuy Björn, Han Hye-Jung, Will Britta, Rosenbauer Frank, Becker Annegret, Wagner Katharina, Koschmieder Steffen, Kobayashi Susumu, Costa Daniel B, Schulz Thomas, O'Brien Karen B, Verhaak Roel G W, Delwel Ruud, Haase Detlef, Trümper Lorenz, Krauter Jürgen, Kohwi-Shigematsu Terumi, Griesinger Frank, Tenen Daniel G

Abstract excerpt

Targeted disruption of a highly conserved distal enhancer reduces expression of the PU.1 transcription factor by 80% and leads to acute myeloid leukemia (AML) with frequent cytogenetic aberrations in mice. Here we identify a SNP within this element in humans that is more frequent in AML with a complex karyotype, leads to decreased enhancer activity, and reduces PU.1 expression in myeloid progenitors in a...

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PMID: 17694175
DOI: 10.1172/JCI30525
PMCID: PMC1937499

Genes

SATB1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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