Hemoglobin genetics: recent contributions of GWAS and gene editing

Transcription factors LRF and BCL11A independently repress expression of fetal hemoglobin

(2016) T. Masuda et al.   SCIENCE

Inactivation of HDAC1 or HDAC2 induces gamma globin expression without altering cell cycle or proliferation

(2015) Erica B. Esrick et al.   AMERICAN JOURNAL OF HEMATOLOGY

Inhibition of G9a methyltransferase stimulates fetal hemoglobin production by facilitating LCR/ -globin looping

(2015) I. Krivega et al.   BLOOD

2p15-p16.1 microdeletions encompassing and proximal to BCL11A are associated with elevated HbF in addition to neurologic impairment

(2015) A. P. W. Funnell et al.   BLOOD

EHMT1 and EHMT2 inhibition induces fetal hemoglobin expression

(2015) A. Renneville et al.   BLOOD

Pomalidomide reverses  -globin silencing through the transcriptional reprogramming of adult hematopoietic progenitors

(2015) B. M. Dulmovits et al.   BLOOD

BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations

(2015) Anindita Basak et al.   JOURNAL OF CLINICAL INVESTIGATION

BCL11A enhancer dissection by Cas9-mediated in situ saturating mutagenesis

(2015) Matthew C. Canver et al.   NATURE

Reactivation of Developmentally Silenced Globin Genes by Forced Chromatin Looping

(2014) Wulan Deng et al.   CELL

Characterization of Genomic Deletion Efficiency Mediated by Clustered Regularly Interspaced Palindromic Repeats (CRISPR)/Cas9 Nuclease System in Mammalian Cells

(2014) Matthew C. Canver et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Mi2 -mediated silencing of the fetal  -globin gene in adult erythroid cells

(2013) M. Amaya et al.   BLOOD

Rare complete loss of function provides insight into a pleiotropic genome-wide association study locus

(2013) V. G. Sankaran et al.   BLOOD

Establishment of Immortalized Human Erythroid Progenitor Cell Lines Able to Produce Enucleated Red Blood Cells

(2013) Ryo Kurita et al.   PLoS One

Chromatin stretch enhancer states drive cell-specific gene regulation and harbor human disease risk variants

(2013) S. C. J. Parker et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Corepressor-dependent silencing of fetal hemoglobin expression by BCL11A

(2013) J. Xu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

An Erythroid Enhancer of BCL11A Subject to Genetic Variation Determines Fetal Hemoglobin Level

(2013) D. E. Bauer et al.   SCIENCE

Lenalidomide Causes Selective Degradation of IKZF1 and IKZF3 in Multiple Myeloma Cells

(2013) J. Kronke et al.   SCIENCE

The Myeloma Drug Lenalidomide Promotes the Cereblon-Dependent Destruction of Ikaros Proteins

(2013) G. Lu et al.   SCIENCE

The Molecular Basis of  -Thalassemia

(2013) S. L. Thein   Cold Spring Harbor Perspectives in Medicine

G9a/GLP-dependent histone H3K9me2 patterning during human hematopoietic stem cell lineage commitment

(2012) X. Chen et al.   GENES & DEVELOPMENT

Mi2β Is Required for γ-Globin Gene Silencing: Temporal Assembly of a GATA-1-FOG-1-Mi2 Repressor Complex in β-YAC Transgenic Mice

(2012) Flávia C. Costa et al.   PLoS Genetics

Transcriptional regulation of fetal to adult hemoglobin switching: new therapeutic opportunities

(2011) A. Wilber et al.   BLOOD

H3K9 methyltransferase G9a and the related molecule GLP

(2011) Y. Shinkai et al.   GENES & DEVELOPMENT

A chemical probe selectively inhibits G9a and GLP methyltransferase activity in cells

(2011) Masoud Vedadi et al.   Nature Chemical Biology

MicroRNA-15a and -16-1 act via MYB to elevate fetal hemoglobin expression in human trisomy 13

(2011) V. G. Sankaran et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

p66 -MBD2 coiled-coil interaction and recruitment of Mi-2 are critical for globin gene silencing by the MBD2-NuRD complex

(2011) M. N. Gnanapragasam et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Correction of Sickle Cell Disease in Adult Mice by Interference with Fetal Hemoglobin Silencing

(2011) J. Xu et al.   SCIENCE

Chemical genetic strategy identifies histone deacetylase 1 (HDAC1) and HDAC2 as therapeutic targets in sickle cell disease

(2010) James E. Bradner et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Developmental and species-divergent globin switching are driven by BCL11A

(2009) Vijay G. Sankaran et al.   NATURE

G9a/GLP complexes independently mediate H3K9 and DNA methylation to silence transcription

(2008) Makoto Tachibana et al.   EMBO JOURNAL

Domain organization of human chromosomes revealed by mapping of nuclear lamina interactions

(2008) Lars Guelen et al.   NATURE

Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of  -thalassemia

(2008) M. Uda et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

DNA polymorphisms at the BCL11A, HBS1L-MYB, and  -globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease

(2008) G. Lettre et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Human Fetal Hemoglobin Expression Is Regulated by the Developmental Stage-Specific RepressorBCL11A

(2008) Vijay G. Sankaran et al.   SCIENCE