GeneID: 495

Description:
Pumilio proteins, such as PUM1, negatively regulate gene expression by repressing translation of mRNAs to which they bind. PUM1 is reported as a key post-transcriptional regulator of β-globin switching and a major player in HbF regulation. Its expression is regulated by the erythroid master transcription factor KLF1 [GeneID: 17]. During erythroid differentiation, it binds to fetal γ-globin mRNA and impairs its stability and translation, resulting in reduced γ-globin protein levels. In silico tools revealed two putative PUM1 core consensus biding sites on the 3’ UTR of the HBG1 gene. Depletion of PUM1 in vitro leads to an increase in HbF levels, without affecting β-globin levels or limiting erythropoiesis progression in human erythroid cells. Also, PUM1 knockout mice are viable with no reported erythroid defects. A naturally occurring PUM1 gene mutation in the RNA binding domain of the gene associates with elevated HbF levels in the absence of anemia. PUM1 presents a candidate modifier of disease severity in beta-hemoglobinopathies via modulation of hemoglobin swithcing and HbF levels.

Synonyms: N/A

Comments:
N/A

Number of entries/variants: 1

1. Elagooz R, Dhara AR, Gott RM, Adams SE, White RA, Ghosh A, Ganguly S, Man Y, Owusu-Ansah A, Mian OY, Gurkan UA, Komar AA, Ramamoorthy M, Gnanapragasam MN, PUM1 mediates the posttranscriptional regulation of human fetal hemoglobin., Blood Adv, 2022 PubMed