GeneID: 43

Description:
This gene belongs to the MYB family of transcription factors, encoding a helix-turn-helix protein with three functional domains: an N-terminal DNA-binding domain, a central transcriptional activation domain, and a C-terminal transcriptional repression domain. MYB is required for normal hematopoiesis, exhibting high expression in immature hematopoietic cells and downregulation during terminal differentiation. Its dysregulation can drive leukemic transformation, establishing MYB as an oncogene. In erythroid development, MYB plays a critical role in globin switching by activating key γ-globin repressors, such as KLF1 and BCL11A. The expression of MYB is regulated by a cluster of distal regulatory elements located -63 to -107kb upstream of its transcription start site (TSS). Among these, the human -84 kb enhancer (and its murine ortholog, -81 kb enhancer) serves as an erythroid-specific regulatory element bound by KLF1 and the GATA1/LDB1 complex. Deletion of the -81 kb enhancer in mice resulted in decreased Myb expression, impaired globin switching, and reduced adult globin levels. However, crossing Myb -81 kb enh KO mice with a β-thalassemia model revealed that this enhancer’s deletion alone was insufficient to fully rescue the disease phenotype.

Synonyms: c-myb

Comments:
N/A

Number of entries/variants: 0

1. Roosjen M, McColl B, Kao B, Gearing LJ, Blewitt ME, Vadolas J, Transcriptional regulators Myb and BCL11A interplay with DNA methyltransferase 1 in developmental silencing of embryonic and fetal β-like globin genes., FASEB J. , 28(4), 1610-20, 2014 PubMed
2. Deleuze V, Stephen T, Salma M, Orfeo C, Jorna R, Maas A, Barroca V, Arcangeli ML, Lecellier CH, Andrieu-Soler C, Grosveld F, Soler E, In vivo deletion of a GWAS-identified Myb distal enhancer acts on Myb expression, globin switching, and clinical erythroid parameters in β-thalassemia., Sci Rep, 15(1), 8996, 2025 PubMed