DNA polymorphisms at the BCL11A, HBS1L-MYB and β-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease
Lettre G, Sankaran VG, Bezerra M A C, et al. DNA polymorphisms at the BCL11A, HBS1L-MYB and β-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease. Proc Nat Acad Sci USA 2008;105:11869-74.
The modifying effect of Xmn1-HBG2 on thalassemic phenotype is associated with its linked elements in the beta globin locus control region, including the palindromic site at 5'HS4
Neishabury M, Zamani S, Azarkeivan A, et al. The modifying effect of Xmn1-HBG2 on thalassemic phenotype is associated with its linked elements in the beta globin locus control region, including the palindromic site at 5'HS4. Blood Cells Mol Dis 2012;48:1-5.
Human fetal hemoglobin expression is regulated by the developmental stage-specific repressor BCL11A
Sankaran VG, Menne TF, Xu J, et al. Human fetal hemoglobin expression is regulated by the developmental stage-specific repressor BCL11A. Science 2008;322:1839-42.
Intergenic variants of HBS1L-MYB are responsible for a major quantitative trait locus on chromosome 6q23 influencing fetal hemoglobin levels in adults
DOI 10.1073/pnas.0611393104
Thein SL, Menzel S, Peng X et al. Intergenic variants of HBS1L-MYB are responsible for a major quantitative trait locus on chromosome 6q23 influencing fetal hemoglobin levels in adults. Proc Nat Acad Sci USA 2007;104:11346-51. (Pubitemid 47175143)
The HSB1L-MYB intergenic interval associated with elevated HbF levels shows characteristics of a distal regulatory region in erythroid cells
Wahlberg K, Jiang J, Rooks H, et al. The HSB1L-MYB intergenic interval associated with elevated HbF levels shows characteristics of a distal regulatory region in erythroid cells. Blood 2009;114:1254-62.
Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin
Borg J, Papadopoulos P, Georgitsi M, et al. Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin. Nat Genet 2010;42:501-5.
Fine-mapping at three loci known to affect fetal hemoglobin levels explain additional genetic variation
Galarneau G, Palmer CD, Sankaran VG, et al. Fine-mapping at three loci known to affect fetal hemoglobin levels explain additional genetic variation. Nat Genet 2010;42:1049-51.
Transcriptional silencing of y-globin by BCL11A involves long-range interactions and cooperation with SOX
Xu J, Sankaran VG, Ni M, et al. Transcriptional silencing of y-globin by BCL11A involves long-range interactions and cooperation with SOX. Genes Dev 2010;24:783-98.
Correction of sickle cell disease in adult mice by interference with fetal hemoglobin silencing
Xu J, Peng C, Sankaran VG, et al. Correction of sickle cell disease in adult mice by interference with fetal hemoglobin silencing. Science 2011;334:993-6.