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http://dx.doi.org/10.3324/haematol.2016.162966DOI Listing

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State Key Laboratory of Complex, Severe, and Rare Diseases, Haihe Laboratory of Cell Ecosystem, Department of Pathophysiology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, P. R. China.

Genome-wide association studies have identified many single nucleotide polymorphisms (SNPs) associated with erythrocyte traits. However, the functional variants and their working mechanisms remain largely unknown. Here, we reported that the SNP of rs80207740, which was associated with red blood cell (RBC) volume and hemoglobin content across populations, conferred enhancer activity to XPO7 gene via allele-differentially binding to Ikaros family zinc finger 1 (IKZF1).

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Article Synopsis
  • Hematopoietic stem and progenitor cells (HSPCs) require a specific combination of seven transcription factors (TFs) to manage their differentiation into various blood cell types, but their precise roles are still unclear.
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  • Findings indicate that certain TF combinations are linked to specific blood cell lineages, and these combinations may also prime regulatory regions for future binding by lineage-specific TFs, providing insights into both normal blood cell formation and potential disruption in leukemia.
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