Insight into GATA1 transcriptional activity through interrogation of cis elements disrupted in human erythroid disorders

Proceedings of the National Academy of Sciences of the United States of America

Volumn 113, Issue 16, 2016, Pages 4434-4439

  Wakabayashi, Aoi ^a,b,c   Ulirsch, Jacob C ^a,b,c   Ludwig, Leif S ^a,b,c,d,e   Fiorini, Claudia ^a,b,c   Yasuda, Makiko ^f   Choudhuri, Avik ^a,b,g   McDonel, Patrick ^c   Zon, Leonard I ^a,b,g,h   Sankaran, Vijay G ^a,b,c  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b DANA FARBER CANCER INSTITUTE   (United States)

^c BROAD INSTITUTE OF MIT AND HARVARD   (United States)

^d FREIE UNIVERSITÄT BERLIN   (Germany)

^e CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^f MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^g Harvard University   (United States)

^h HOWARD HUGHES MEDICAL INSTITUTE   (United States)

Author keywords

Cis regulatory elements; GATA1; Mendelian erythroid disorders; Noncoding mutations

Indexed keywords

TRANSCRIPTION FACTOR GATA 1; BASIC HELIX LOOP HELIX TRANSCRIPTION FACTOR; GATA1 PROTEIN, HUMAN; ONCOPROTEIN; TAL1 PROTEIN, HUMAN;

ANIMAL CELL; ARTICLE; BINDING SITE; CONTROLLED STUDY; CRISPR-CAS9 SYSTEM; ERYTHROBLAST; ERYTHROCYTE DISORDER; GENE EDITING; GENE EXPRESSION; GENE MUTATION; GENETIC CONSERVATION; GENETIC VARIATION; HUMAN; HUMAN CELL; K-562 CELL LINE; MONOGENIC DISORDER; MOUSE; NONHUMAN; PATHOGENICITY; PHENOTYPE; PREDICTION; PROTEIN BINDING; REGULATORY SEQUENCE; SINGLE NUCLEOTIDE POLYMORPHISM; BLACKFAN DIAMOND ANEMIA; CRISPR CAS SYSTEM; DNA RESPONSIVE ELEMENT; GENETIC TRANSCRIPTION; GENETICS; METABOLISM; MUTATION; NUCLEOTIDE MOTIF;

ANEMIA, DIAMOND-BLACKFAN; BASIC HELIX-LOOP-HELIX TRANSCRIPTION FACTORS; CRISPR-CAS SYSTEMS; GATA1 TRANSCRIPTION FACTOR; HUMANS; K562 CELLS; MUTATION; NUCLEOTIDE MOTIFS; PROTO-ONCOGENE PROTEINS; RESPONSE ELEMENTS; TRANSCRIPTION, GENETIC;

EID: 84971552494     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/PNAS.1521754113     Document Type: Article

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