TY  - JOUR
A1  - Shah, Maitri Y.
A1  - Ferracin, Manuela
A1  - Pileczki, Valentina
A1  - Chen, Baoqing
A1  - Redis, Roxana
A1  - Fabris, Linda
A1  - Zhang, Xinna
A1  - Ivan, Cristina
A1  - Shimizu, Masayoshi
A1  - Rodriguez-Aguayo, Cristian
A1  - Dragomir, Mihnea
A1  - Van Roosbroeck, Katrien
A1  - Almeida, Maria Ines
A1  - Ciccone, Maria
A1  - Nedelcu, Daniela
A1  - Cortez, Maria Angelica
A1  - Manshouri, Taghi
A1  - Calin, Steliana
A1  - Muftuoglu, Muharrem
A1  - Banerjee, Pinaki P.
A1  - Badiwi, Mustafa H.
A1  - Parker-Thornburg, Jan
A1  - Multani, Asha
A1  - Welsh, James William
A1  - Estecio, Marcos Roberto
A1  - Ling, Hui
A1  - Tomuleasa, Ciprian
A1  - Dima, Delia
A1  - Yang, Hui
A1  - Alvarez, Hector
A1  - You, M. James
A1  - Radovich, Milan
A1  - Shpall, Elizabeth
A1  - Fabbri, Muller
A1  - Rezvani, Katy
A1  - Girnita, Leonard
A1  - Berindan-Neagoe, Ioana
A1  - Maitra, Anirban
A1  - Verstovsek, Srdan
A1  - Fodde, Riccardo
A1  - Bueso-Ramos, Carlos
A1  - Gagea, Mihai
A1  - Manero, Guillermo Garcia
A1  - Calin, George A.
T1  - Cancer-associated rs6983267 SNP and its accompanying long noncoding RNA CCAT2 induce myeloid malignancies via unique SNP-specific RNA mutations
Y1  - 2018/04/01 
JF  - Genome Research 
JO  - Genome Research 
SP  - 432 
EP  - 447 
DO  - 10.1101/gr.225128.117 
VL  - 28 
IS  - 4 
UR  - http://genome.cshlp.org/content/28/4/432.abstract 
N2  - The cancer-risk-associated rs6983267 single nucleotide polymorphism (SNP) and the accompanying long noncoding RNA CCAT2 in the highly amplified 8q24.21 region have been implicated in cancer predisposition, although causality has not been established. Here, using allele-specific CCAT2 transgenic mice, we demonstrate that CCAT2 overexpression leads to spontaneous myeloid malignancies. We further identified that CCAT2 is overexpressed in bone marrow and peripheral blood of myelodysplastic/myeloproliferative neoplasms (MDS/MPN) patients. CCAT2 induces global deregulation of gene expression by down-regulating EZH2 in vitro and in vivo in an allele-specific manner. We also identified a novel non-APOBEC, non-ADAR, RNA editing at the SNP locus in MDS/MPN patients and CCAT2-transgenic mice. The RNA transcribed from the SNP locus in malignant hematopoietic cells have different allelic composition from the corresponding genomic DNA, a phenomenon rarely observed in normal cells. Our findings provide fundamental insights into the functional role of rs6983267 SNP and CCAT2 in myeloid malignancies. 
ER  -