Article
HBS1L-MYB intergenic variants modulate fetal hemoglobin via long-range MYB enhancers.
The Journal of clinical investigation - 1 Apr 2014
Stadhouders Ralph, Aktuna Suleyman, Thongjuea Supat, Aghajanirefah Ali, Pourfarzad Farzin, van Ijcken Wilfred, Lenhard Boris, Rooks Helen, Best Steve, Menzel Stephan, Grosveld Frank, Thein Swee Lay, Soler Eric
Abstract excerpt
Genetic studies have identified common variants within the intergenic region (HBS1L-MYB) between GTP-binding elongation factor HBS1L and myeloblastosis oncogene MYB on chromosome 6q that are associated with elevated fetal hemoglobin (HbF) levels and alterations of other clinically important human erythroid traits. It is unclear how these noncoding sequence variants affect multiple erythrocyte characteristics....
Topics
- Adult
- Cell Line
- DNA, Intergenic
- Enhancer Elements, Genetic
- Erythroid Cells
- Fetal Hemoglobin
- GTP-Binding Proteins
- Genes, myb
- Genetic Variation
- HSP70 Heat-Shock Proteins
- Humans
- K562 Cells
- Peptide Elongation Factors