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Series GSE202207 Query DataSets for GSE202207
Status Public on Jun 21, 2022
Title Aberrant EVI1 splicing contributes to EVI1-rearranged leukemia (ChIP-Seq)
Organism Homo sapiens
Experiment type Genome binding/occupancy profiling by high throughput sequencing
Summary Detailed genomic and epigenomic analyses of MECOM (the MDS1 and EVI1 complex locus) have revealed that inversion or translocation of chromosome 3 at MECOM drive inv(3)/t(3;3) myeloid leukemias and revealed MECOM germline mutations in patients with MECOM-associated bone marrow failure syndromes. Here we identify a novel, previously unannotated oncogenic RNA-splicing derived isoform of EVI1 which is frequently present in inv(3)/t(3;3) AML and directly contributes to leukemic transformation. Expression of this EVI1 splice variant enhanced the self-renewal of hematopoietic stem cells and introduction of mutant SF3B1 in mice bearing the humanized inv(3)(q21;26) allele hastened leukemogenesis in vivo. These data provide a mechanistic basis for the frequent co-occurrence of SF3B1 mutations as well as new insights into the pathogenesis of myeloid leukemias harboring inv(3)/t(3;3).
 
Overall design Examination of different DNA binding of EVI1 in 3q-rearranged hematopoietic cells with or without SF3B1 mutations .
 
Contributor(s) Nomura M, Delwel R, Inoue D, Abdel-Wahab O
Citation(s) 35709354
Submission date May 04, 2022
Last update date Jun 25, 2022
Contact name Masaki Nomura
E-mail(s) masaki.nomura.fbri@gmail.com
Organization name Foundation for Biomedical Research and Innovation at Kobe
Street address 6-3-7 Minatojima Minamimachi, Chuo Ward
City Kobe
State/province Hyogo
ZIP/Postal code 650-0047
Country Japan
 
Platforms (1)
GPL16791 Illumina HiSeq 2500 (Homo sapiens)
Samples (8)
GSM6106330 input_Molm1_140616_SN583_0116_AH7PJVADXX
GSM6106331 EVI1_Molm1_140415_SN583_0110_AC3UTLACXX
GSM6106332 EVI1_input_HNT34_141211_SN583_0132_AC66ATACXX
This SubSeries is part of SuperSeries:
GSE202211 Aberrant EVI1 splicing contributes to EVI1-rearranged leukemia II
Relations
BioProject PRJNA835058

Download family Format
SOFT formatted family file(s) SOFTHelp
MINiML formatted family file(s) MINiMLHelp
Series Matrix File(s) TXTHelp

Supplementary file Size Download File type/resource
GSE202207_RAW.tar 1.9 Gb (http)(custom) TAR (of BIGWIG)
SRA Run SelectorHelp
Raw data are available in SRA
Processed data provided as supplementary file

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