Editing the genome to introduce a beneficial naturally occurring mutation associated with increased fetal globin. (Q34476277)

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8 March 2020

title

Editing the genome to introduce a beneficial naturally occurring mutation associated with increased fetal globin (English)

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3

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Jacqueline M Matthews

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Kate G Quinlan

10

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Merlin Crossley

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author name string

Beeke Wienert

1

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Alister P W Funnell

2

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Richard C M Pearson

4

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Lorna E Wilkinson-White

5

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Krystal Lester

6

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Jim Vadolas

7

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Matthew H Porteus

8

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8 March 2020

language of work or name

English

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publication date

14 May 2015

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8 March 2020

published in

Nature Communications

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volume

6

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page(s)

7085

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https://scigraph.springernature.com/pub.10.1038/ncomms8085

8 March 2020

exact match

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cites work

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Pharmacologic modulation of fetal hemoglobin.

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Hydroxyurea enhances fetal hemoglobin production in sickle cell anemia

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Gene expression analysis of the Brazilian type of hereditary persistence of fetal hemoglobin: identification of genes that could be related to γ-globin activation.

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A history of the human fetal globin gene duplication

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Globin chain synthesis in single erythroid bursts from cord blood: studies on gamma leads to beta and G gamma leads to A gamma switches.

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A TALEN genome-editing system for generating human stem cell-based disease models

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In vivo genome editing restores haemostasis in a mouse model of haemophilia

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Increased gamma-globin expression in a nondeletion HPFH mediated by an erythroid-specific DNA-binding factor

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Molecular basis of hereditary persistence of fetal hemoglobin

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The critical regulator of embryonic hematopoiesis, SCL, is vital in the adult for megakaryopoiesis, erythropoiesis, and lineage choice in CFU-S12

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The LIM-only protein Lmo2 is a bridging molecule assembling an erythroid, DNA-binding complex which includes the TAL1, E47, GATA-1 and Ldb1/NLI proteins

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Genome-wide identification of TAL1's functional targets: insights into its mechanisms of action in primary erythroid cells

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Identification of the key LMO2-binding determinants on Ldb1.

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Structural Basis for LMO2-Driven Recruitment of the SCL:E47bHLH Heterodimer to Hematopoietic-Specific Transcriptional Targets

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Fetal hemoglobin in sickle cell anemia

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Generation of a genomic reporter assay system for analysis of γ- and β-globin gene regulation

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Transcriptional regulators Myb and BCL11A interplay with DNA methyltransferase 1 in developmental silencing of embryonic and fetal β-like globin genes.

21 January 2018

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Nuclease-mediated gene editing by homologous recombination of the human globin locus

21 January 2018

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T to C substitution at -175 or -173 of the gamma-globin promoter affects GATA-1 and Oct-1 binding in vitro differently but can independently reproduce the hereditary persistence of fetal hemoglobin phenotype in transgenic mice

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Site-specific, Rep-mediated integration of the intact beta-globin locus in the human erythroleukaemic cell line K562.

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Complete karyotype characterization of the K562 cell line by combined application of G-banding, multiplex-fluorescence in situ hybridization, fluorescence in situ hybridization, and comparative genomic hybridization

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Ldb1-nucleated transcription complexes function as primary mediators of global erythroid gene activation

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Joining the loops: beta-globin gene regulation

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Transcriptional silencing of {gamma}-globin by BCL11A involves long-range interactions and cooperation with SOX6.

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An erythroid enhancer of BCL11A subject to genetic variation determines fetal hemoglobin level.

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Controlling long-range genomic interactions at a native locus by targeted tethering of a looping factor

21 January 2018

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Reactivation of developmentally silenced globin genes by forced chromatin looping.

21 January 2018

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SCL and associated proteins distinguish active from repressive GATA transcription factor complexes

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Insights into GATA-1-mediated gene activation versus repression via genome-wide chromatin occupancy analysis

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Discovering hematopoietic mechanisms through genome-wide analysis of GATA factor chromatin occupancy

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A protein factor binding to an octamer motif in the gamma-globin promoter disappears upon induction of differentiation and hemoglobin synthesis in K562 cells

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Nuclear proteins that bind the human gamma-globin gene promoter: alterations in binding produced by point mutations associated with hereditary persistence of fetal hemoglobin

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Efficient design and assembly of custom TALEN and other TAL effector-based constructs for DNA targeting

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Regions outside the DNA-binding domain are critical for proper in vivo specificity of an archetypal zinc finger transcription factor

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The distinctive roles of erythroid specific activator GATA-1 and NF-E2 in transcription of the human fetal γ-globin genes

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Development of sensitive fluorescent assays for embryonic and fetal hemoglobin inducers using the human beta -globin locus in erythropoietic cells

21 January 2018

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Sequence features and chromatin structure around the genomic regions bound by 119 human transcription factors

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LIM Domain Binding Proteins 1 and 2 Have Different Oligomeric States

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Assembly of the oncogenic DNA-binding complex LMO2-Ldb1-TAL1-E12

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inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/NCOMMS8085

1 reference

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Dimensions Publication ID

8 March 2020

ADS bibcode

2015NatCo...6.7085W

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