GATA2 monoallelic expression underlies reduced penetrance in inherited GATA2-mutated MDS/AML.

作者: Ahad F Al Seraihi , Ana Rio-Machin , Kiran Tawana , Csaba Bödör , Jun Wang

DOI: 10.1038/S41375-018-0134-9

关键词:

摘要: Saudi Arabian Ministry of Higher Education through a doctoral scholarship awarded to A.F.A.S. and Bloodwise Programme grant (14032) J.F., T.V., I.D.

参考文章(19)
Xabier Cortés-Lavaud, Manuel F Landecho, Miren Maicas, Leire Urquiza, Juana Merino, Isabel Moreno-Miralles, María D Odero, None, GATA2 Germline Mutations Impair GATA2 Transcription, Causing Haploinsufficiency: Functional Analysis of the p.Arg396Gln Mutation Journal of Immunology. ,vol. 194, pp. 2190- 2198 ,(2015) , 10.4049/JIMMUNOL.1401868
Nathan R. Rose, Robert J. Klose, Understanding the relationship between DNA methylation and histone lysine methylation Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms. ,vol. 1839, pp. 1362- 1372 ,(2014) , 10.1016/J.BBAGRM.2014.02.007
Christopher N Hahn, Chan-Eng Chong, Catherine L Carmichael, Ella J Wilkins, Peter J Brautigan, Xiao-Chun Li, Milena Babic, Ming Lin, Amandine Carmagnac, Young K Lee, Chung H Kok, Lucia Gagliardi, Kathryn L Friend, Paul G Ekert, Carolyn M Butcher, Anna L Brown, Ian D Lewis, L Bik To, Andrew E Timms, Jan Storek, Sarah Moore, Meryl Altree, Robert Escher, Peter G Bardy, Graeme K Suthers, Richard J D'Andrea, Marshall S Horwitz, Hamish S Scott, None, Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia Nature Genetics. ,vol. 43, pp. 1012- 1019 ,(2011) , 10.1038/NG.913
J Boultwood, J Perry, A Pellagatti, M Fernandez-Mercado, C Fernandez-Santamaria, M J Calasanz, M J Larrayoz, M Garcia-Delgado, A Giagounidis, L Malcovati, M G Della Porta, M Jädersten, S Killick, E Hellström-Lindberg, M Cazzola, J S Wainscoat, Frequent mutation of the polycomb-associated gene ASXL1 in the myelodysplastic syndromes and in acute myeloid leukemia. Leukemia. ,vol. 24, pp. 1062- 1065 ,(2010) , 10.1038/LEU.2010.20
Amy P. Hsu, Kirby D. Johnson, E. Liana Falcone, Rajendran Sanalkumar, Lauren Sanchez, Dennis D. Hickstein, Jennifer Cuellar-Rodriguez, Jacob E. Lemieux, Christa S. Zerbe, Emery H. Bresnick, Steven M. Holland, GATA2 haploinsufficiency caused by mutations in a conserved intronic element leads to MonoMAC syndrome. Blood. ,vol. 121, pp. 3830- 3837 ,(2013) , 10.1182/BLOOD-2012-08-452763
C. Bodor, A. Renneville, M. Smith, A. Charazac, S. Iqbal, P. Etancelin, J. Cavenagh, M. J. Barnett, K. Kramarzova, B. Krishnan, A. Matolcsy, C. Preudhomme, J. Fitzgibbon, C. Owen, Germ-line GATA2 p.THR354MET mutation in familial myelodysplastic syndrome with acquired monosomy 7 and ASXL1 mutation demonstrating rapid onset and poor survival Haematologica. ,vol. 97, pp. 890- 894 ,(2012) , 10.3324/HAEMATOL.2011.054361
M Celton, A Forest, G Gosse, S Lemieux, J Hebert, G Sauvageau, B T Wilhelm, Epigenetic regulation of GATA2 and its impact on normal karyotype acute myeloid leukemia Leukemia. ,vol. 28, pp. 1617- 1626 ,(2014) , 10.1038/LEU.2014.67
Mark A. Dawson, Tony Kouzarides, Cancer epigenetics: from mechanism to therapy. Cell. ,vol. 150, pp. 12- 27 ,(2012) , 10.1016/J.CELL.2012.06.013
David N. Cooper, Michael Krawczak, Constantin Polychronakos, Chris Tyler-Smith, Hildegard Kehrer-Sawatzki, Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease Human Genetics. ,vol. 132, pp. 1077- 1130 ,(2013) , 10.1007/S00439-013-1331-2
R. R. West, A. P. Hsu, S. M. Holland, J. Cuellar-Rodriguez, D. D. Hickstein, Acquired ASXL1 mutations are common in patients with inherited GATA2 mutations and correlate with myeloid transformation Haematologica. ,vol. 99, pp. 276- 281 ,(2014) , 10.3324/HAEMATOL.2013.090217