Subtle Changes in the Levels of BCL-2 Proteins Cause Severe Craniofacial Abnormalities

Cell Reports - Tập 24 - Trang 3285-3295.e4 - 2018
Stephanie Grabow1,2, Andrew J. Kueh1,2, Francine Ke1,2, Hannah K. Vanyai1,2, Bilal N. Sheikh1,2, Michael A. Dengler1,2, William Chiang1,2, Samantha Eccles1, Ian M. Smyth3,4, Lynelle K. Jones3,4, Frederic J. de Sauvage5, Mark Scott1, Lachlan Whitehead1,2, Anne K. Voss1,2, Andreas Strasser1,2
1The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC 3052, Australia
2Department of Medical Biology, The University of Melbourne, Melbourne, VIC 3052, Australia
3Development and Stem Cells Program, Monash Biomedicine Discovery Institute, Monash University, Melbourne, VIC 3800, Australia
4Department of Anatomy and Developmental Biology and Department of Biochemistry and Molecular Biology, Monash University, Melbourne, VIC 3800, Australia
5Department of Molecular Oncology, Genentech, South San Francisco, CA 94080 USA

Tài liệu tham khảo

Adams, 2007, The Bcl-2 apoptotic switch in cancer development and therapy, Oncogene, 26, 1324, 10.1038/sj.onc.1210220 Aoto, 2015, Co-ordinated brain and craniofacial development depend upon Patched1/XIAP regulation of cell survival, Hum. Mol. Genet., 24, 698, 10.1093/hmg/ddu489 Belloni, 1996, Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly, Nat. Genet., 14, 353, 10.1038/ng1196-353 Bigelow, 2004, Transcriptional regulation of bcl-2 mediated by the sonic hedgehog signaling pathway through gli-1, J. Biol. Chem., 279, 1197, 10.1074/jbc.M310589200 Bouillet, 1999, Proapoptotic Bcl-2 relative Bim required for certain apoptotic responses, leukocyte homeostasis, and to preclude autoimmunity, Science, 286, 1735, 10.1126/science.286.5445.1735 Bouillet, 2001, Degenerative disorders caused by Bcl-2 deficiency prevented by loss of its BH3-only antagonist Bim, Dev. Cell, 1, 645, 10.1016/S1534-5807(01)00083-1 Brinkmann, 2017, The combination of reduced MCL-1 and standard chemotherapeutics is tolerable in mice, Cell Death Differ., 24, 2032, 10.1038/cdd.2017.125 Brown, 1998, Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired, Nat. Genet., 20, 180, 10.1038/2484 Carpio, 2016, Reply to Fernandez-Marrero et al.: role of BOK at the intersection of endoplasmic reticulum stress and apoptosis regulation, Proc. Natl. Acad. Sci. U S A, 113, E494, 10.1073/pnas.1521979113 Charles, 2007, Congenital tumors, 327 Chen, 2005, Differential targeting of prosurvival Bcl-2 proteins by their BH3-only ligands allows complementary apoptotic function, Mol. Cell, 17, 393, 10.1016/j.molcel.2004.12.030 Chiang, 1996, Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function, Nature, 383, 407, 10.1038/383407a0 Chipuk, 2008, How do BCL-2 proteins induce mitochondrial outer membrane permeabilization?, Trends Cell Biol., 18, 157, 10.1016/j.tcb.2008.01.007 Chu, 2005, Non-cell-autonomous role for Cripto in axial midline formation during vertebrate embryogenesis, Development, 132, 5539, 10.1242/dev.02157 Combes, 2014, An integrated pipeline for the multidimensional analysis of branching morphogenesis, Nat. Protoc., 9, 2859, 10.1038/nprot.2014.193 Czabotar, 2014, Control of apoptosis by the BCL-2 protein family: implications for physiology and therapy, Nat. Rev. Mol. Cell Biol., 15, 49, 10.1038/nrm3722 Delbridge, 2015, Antagonism between MCL-1 and PUMA governs stem/progenitor cell survival during hematopoietic recovery from stress, Blood, 125, 3273, 10.1182/blood-2015-01-621250 Delbridge, 2016, Thirty years of BCL-2: translating cell death discoveries into novel cancer therapies, Nat. Rev. Cancer, 16, 99, 10.1038/nrc.2015.17 Dennis, 2012, Mutations in Hedgehog acyltransferase (Hhat) perturb Hedgehog signaling, resulting in severe acrania-holoprosencephaly-agnathia craniofacial defects, PLoS Genet., 8, e1002927, 10.1371/journal.pgen.1002927 Geng, 2009, Pathogenesis of holoprosencephaly, J. Clin. Invest., 119, 1403, 10.1172/JCI38937 Geng, 2008, Haploinsufficiency of Six3 fails to activate Sonic hedgehog expression in the ventral forebrain and causes holoprosencephaly, Dev. Cell, 15, 236, 10.1016/j.devcel.2008.07.003 Glaser, 2012, Anti-apoptotic Mcl-1 is essential for the development and sustained growth of acute myeloid leukemia, Genes Dev., 26, 120, 10.1101/gad.182980.111 Goodrich, 1996, Conservation of the hedgehog/patched signaling pathway from flies to mice: induction of a mouse patched gene by Hedgehog, Genes Dev., 10, 301, 10.1101/gad.10.3.301 Grabow, 2016, Loss of a Single Mcl-1 Allele Inhibits MYC-Driven Lymphomagenesis by Sensitizing Pro-B Cells to Apoptosis, Cell Rep., 14, 2337, 10.1016/j.celrep.2016.02.039 Gripp, 2000, Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination, Nat. Genet., 25, 205, 10.1038/76074 Harfe, 2004, Evidence for an expansion-based temporal Shh gradient in specifying vertebrate digit identities, Cell, 118, 517, 10.1016/j.cell.2004.07.024 Hayhurst, 2003, Mouse models of holoprosencephaly, Curr. Opin. Neurol., 16, 135, 10.1097/00019052-200304000-00003 Ke, 2012, BCL-2 family member BOK is widely expressed but its loss has only minimal impact in mice, Cell Death Differ., 19, 915, 10.1038/cdd.2011.210 Ke, 2018, Embryogenesis and adult life in the absence of intrinsic apoptosis effectors BAX, BAK and BOK, Cell, 173, 1217, 10.1016/j.cell.2018.04.036 Kelly, 2014, Targeting of MCL-1 kills MYC-driven mouse and human lymphomas even when they bear mutations in p53, Genes Dev., 28, 58, 10.1101/gad.232009.113 Koss, 2013, Requirement for antiapoptotic MCL-1 in the survival of BCR-ABL B-lineage acute lymphoblastic leukemia, Blood, 122, 1587, 10.1182/blood-2012-06-440230 Kulesa, 2004, Comparative analysis of neural crest cell death, migration, and function during vertebrate embryogenesis, Dev. Dyn., 229, 14, 10.1002/dvdy.10485 Kuwana, 2005, BH3 domains of BH3-only proteins differentially regulate Bax-mediated mitochondrial membrane permeabilization both directly and indirectly, Mol. Cell, 17, 525, 10.1016/j.molcel.2005.02.003 Llambi, 2016, BOK is a non-canonical BCL-2 family effector of apoptosis regulated by ER-associated degradation, Cell, 165, 421, 10.1016/j.cell.2016.02.026 Matsunaga, 1977, Holoprosencephaly in human embryos: epidemiologic studies of 150 cases, Teratology, 16, 261, 10.1002/tera.1420160304 Motoyama, 1995, Massive cell death of immature hematopoietic cells and neurons in Bcl-x-deficient mice, Science, 267, 1506, 10.1126/science.7878471 Nomura, 1998, Smad2 role in mesoderm formation, left-right patterning and craniofacial development, Nature, 393, 786, 10.1038/31693 O’Brien, 1998, Viruses and apoptosis, J. Gen. Virol., 79, 1833, 10.1099/0022-1317-79-8-1833 O’Connor, 1998, Bim: a novel member of the Bcl-2 family that promotes apoptosis, EMBO J., 17, 384, 10.1093/emboj/17.2.384 O’Reilly, 2000, The proapoptotic BH3-only protein bim is expressed in hematopoietic, epithelial, neuronal, and germ cells, Am. J. Pathol., 157, 449, 10.1016/S0002-9440(10)64557-9 Okamoto, 2014, Enhanced stability of Mcl1, a prosurvival Bcl2 relative, blunts stress-induced apoptosis, causes male sterility, and promotes tumorigenesis, Proc. Natl. Acad. Sci. U S A, 111, 261, 10.1073/pnas.1321259110 Opferman, 2006, Unraveling MCL-1 degradation, Cell Death Differ., 13, 1260, 10.1038/sj.cdd.4401978 Petryk, 2015, Holoprosencephaly: signaling interactions between the brain and the face, the environment and the genes, and the phenotypic variability in animal models and humans, Wiley Interdiscip. Rev. Dev. Biol., 4, 17, 10.1002/wdev.161 Regl, 2004, Activation of the BCL2 promoter in response to Hedgehog/GLI signal transduction is predominantly mediated by GLI2, Cancer Res., 64, 7724, 10.1158/0008-5472.CAN-04-1085 Rinkenberger, 2000, Mcl-1 deficiency results in peri-implantation embryonic lethality, Genes Dev., 14, 23, 10.1101/gad.14.1.23 Roach, 1975, Holoprosencephaly: birth data, benetic and demographic analyses of 30 families, Birth Defects Orig. Artic. Ser., 11, 294 Roessler, 1996, Mutations in the human Sonic Hedgehog gene cause holoprosencephaly, Nat. Genet., 14, 357, 10.1038/ng1196-357 Thomas, 2000, Querkopf, a MYST family histone acetyltransferase, is required for normal cerebral cortex development, Development, 127, 2537, 10.1242/dev.127.12.2537 Thomas, 2007, The genes coding for the MYST family histone acetyltransferases, Tip60 and Mof, are expressed at high levels during sperm development, Gene Expr. Patterns, 7, 657, 10.1016/j.modgep.2007.03.005 Veis, 1993, Bcl-2-deficient mice demonstrate fulminant lymphoid apoptosis, polycystic kidneys, and hypopigmented hair, Cell, 75, 229, 10.1016/0092-8674(93)80065-M Vikstrom, 2010, Mcl-1 is essential for germinal center formation and B cell memory, Science, 330, 1095, 10.1126/science.1191793 Wagner, 2000, Conditional deletion of the Bcl-x gene from erythroid cells results in hemolytic anemia and profound splenomegaly, Development, 127, 4949, 10.1242/dev.127.22.4949 Wallis, 1999, Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly, Nat. Genet., 22, 196, 10.1038/9718 Wright, 1995, The Sry-related gene Sox9 is expressed during chondrogenesis in mouse embryos, Nat. Genet., 9, 15, 10.1038/ng0195-15 Youle, 2008, The BCL-2 protein family: opposing activities that mediate cell death, Nat. Rev. Mol. Cell Biol., 9, 47, 10.1038/nrm2308