@article{Shah01042018,
author = {Shah, Maitri Y. and Ferracin, Manuela and Pileczki, Valentina and Chen, Baoqing and Redis, Roxana and Fabris, Linda and Zhang, Xinna and Ivan, Cristina and Shimizu, Masayoshi and Rodriguez-Aguayo, Cristian and Dragomir, Mihnea and Van Roosbroeck, Katrien and Almeida, Maria Ines and Ciccone, Maria and Nedelcu, Daniela and Cortez, Maria Angelica and Manshouri, Taghi and Calin, Steliana and Muftuoglu, Muharrem and Banerjee, Pinaki P. and Badiwi, Mustafa H. and Parker-Thornburg, Jan and Multani, Asha and Welsh, James William and Estecio, Marcos Roberto and Ling, Hui and Tomuleasa, Ciprian and Dima, Delia and Yang, Hui and Alvarez, Hector and You, M. James and Radovich, Milan and Shpall, Elizabeth and Fabbri, Muller and Rezvani, Katy and Girnita, Leonard and Berindan-Neagoe, Ioana and Maitra, Anirban and Verstovsek, Srdan and Fodde, Riccardo and Bueso-Ramos, Carlos and Gagea, Mihai and Manero, Guillermo Garcia and Calin, George A.}, 
title = {Cancer-associated rs6983267 SNP and its accompanying long noncoding RNA CCAT2 induce myeloid malignancies via unique SNP-specific RNA mutations},
volume = {28}, 
number = {4}, 
pages = {432-447}, 
year = {2018}, 
doi = {10.1101/gr.225128.117}, 
abstract ={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.}, 
URL = {http://genome.cshlp.org/content/28/4/432.abstract}, 
eprint = {http://genome.cshlp.org/content/28/4/432.full.pdf+html}, 
journal = {Genome Research} 
}