The renal lineage factor PAX8 controls oncogenic signalling in kidney cancer.
Alleles
Basic Helix-Loop-Helix Transcription Factors
/ metabolism
Carcinogenesis
/ genetics
Carcinoma, Renal Cell
/ metabolism
Cyclin D1
/ genetics
Gene Expression Regulation, Neoplastic
Humans
Kidney
/ metabolism
Kidney Neoplasms
/ metabolism
Mutation
PAX8 Transcription Factor
/ genetics
Proto-Oncogene Proteins c-myc
/ genetics
Signal Transduction
Von Hippel-Lindau Tumor Suppressor Protein
/ genetics
Journal
Nature
ISSN: 1476-4687
Titre abrégé: Nature
Pays: England
ID NLM: 0410462
Informations de publication
Date de publication:
06 2022
06 2022
Historique:
received:
11
02
2021
accepted:
27
04
2022
pubmed:
9
6
2022
medline:
2
7
2022
entrez:
8
6
2022
Statut:
ppublish
Résumé
Large-scale human genetic data
Identifiants
pubmed: 35676472
doi: 10.1038/s41586-022-04809-8
pii: 10.1038/s41586-022-04809-8
pmc: PMC9242860
doi:
Substances chimiques
Basic Helix-Loop-Helix Transcription Factors
0
CCND1 protein, human
0
MYC protein, human
0
PAX8 Transcription Factor
0
PAX8 protein, human
0
Proto-Oncogene Proteins c-myc
0
Cyclin D1
136601-57-5
endothelial PAS domain-containing protein 1
1B37H0967P
Von Hippel-Lindau Tumor Suppressor Protein
EC 2.3.2.27
VHL protein, human
EC 6.3.2.-
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
999-1006Subventions
Organisme : Medical Research Council
ID : MC_UU_12022/10
Pays : United Kingdom
Organisme : Medical Research Council
ID : MC_UU_12022/7
Pays : United Kingdom
Commentaires et corrections
Type : CommentIn
Type : CommentIn
Type : CommentIn
Informations de copyright
© 2022. The Author(s).
Références
Campbell, P. J. et al. Pan-cancer analysis of whole genomes. Nature 578, 82–93 (2020).
doi: 10.1038/s41586-020-1969-6
Priestley, P. et al. Pan-cancer whole-genome analyses of metastatic solid tumours. Nature 575, 210–216 (2019).
pubmed: 31645765
pmcid: 6872491
doi: 10.1038/s41586-019-1689-y
Fletcher, O. & Houlston, R. S. Architecture of inherited susceptibility to common cancer. Nat. Rev. Cancer 10, 353–361 (2010).
pubmed: 20414203
doi: 10.1038/nrc2840
Purdue, M. P. et al. Genome-wide association study of renal cell carcinoma identifies two susceptibility loci on 2p21 and 11q13.3. Nat. Genet. 43, 60–65 (2011).
pubmed: 21131975
doi: 10.1038/ng.723
Scelo, G. et al. Genome-wide association study identifies multiple risk loci for renal cell carcinoma. Nat. Commun. 8, 15724 (2017).
pubmed: 28598434
pmcid: 5472706
doi: 10.1038/ncomms15724
Turajlic, S. et al. Deterministic evolutionary trajectories influence primary tumor growth: TRACERx Renal. Cell 173, 595–610 (2018).
pubmed: 29656894
pmcid: 5938372
doi: 10.1016/j.cell.2018.03.043
Kaelin, W. G. von Hippel-Lindau disease. Annu. Rev. Pathol. Mech. Dis. 2, 145–173 (2007).
doi: 10.1146/annurev.pathol.2.010506.092049
Watkins, T. B. K. et al. Pervasive chromosomal instability and karyotype order in tumour evolution. Nature 587, 126–132 (2020).
pubmed: 32879494
pmcid: 7611706
doi: 10.1038/s41586-020-2698-6
Haigis, K. M., Cichowski, K. & Elledge, S. J. Tissue-specificity in cancer: the rule, not the exception. Science 363, 1150–1151 (2019).
pubmed: 30872507
doi: 10.1126/science.aaw3472
Shakhova, O. et al. Sox10 promotes the formation and maintenance of giant congenital naevi and melanoma. Nat. Cell Biol. 14, 882–890 (2012).
pubmed: 22772081
doi: 10.1038/ncb2535
Kaufman, C. K. et al. A zebrafish melanoma model reveals emergence of neural crest identity during melanoma initiation. Science 351, aad2197 (2016).
pubmed: 26823433
pmcid: 4868069
doi: 10.1126/science.aad2197
McDonald, E. R. et al. Project DRIVE: a compendium of cancer dependencies and synthetic lethal relationships uncovered by large-scale, deep RNAi screening. Cell 170, 577–592.e10 (2017).
pubmed: 28753431
doi: 10.1016/j.cell.2017.07.005
Tsherniak, A. et al. Defining a cancer dependency map. Cell 170, 564–576.e16 (2017).
pubmed: 28753430
pmcid: 5667678
doi: 10.1016/j.cell.2017.06.010
Vanharanta, S. et al. Epigenetic expansion of VHL-HIF signal output drives multiorgan metastasis in renal cancer. Nat. Med. 19, 50–56 (2013).
pubmed: 23223005
doi: 10.1038/nm.3029
Jacob, L. S. et al. Metastatic competence can emerge with selection of preexisting oncogenic alleles without a need of new mutations. Cancer Res. 75, 3713–3719 (2015).
pubmed: 26208905
pmcid: 4573898
doi: 10.1158/0008-5472.CAN-15-0562
Rodrigues, P. et al. NF-κB-dependent lymphoid enhancer co-option promotes renal carcinoma metastasis. Cancer Discov. 8, 850–865 (2018).
pubmed: 29875134
pmcid: 6031301
doi: 10.1158/2159-8290.CD-17-1211
Dempster, J. M. et al. Extracting biological insights from the Project Achilles Genome-Scale CRISPR screens in cancer cell lines. Preprint at bioRxiv https://doi.org/10.1101/720243 (2019).
Meyers, R. M. et al. Computational correction of copy number effect improves specificity of CRISPR–Cas9 essentiality screens in cancer cells. Nat. Genet. 49, 1779–1784 (2017).
pubmed: 29083409
pmcid: 5709193
doi: 10.1038/ng.3984
Bleu, M. et al. PAX8 activates metabolic genes via enhancer elements in renal cell carcinoma. Nat. Commun. 10, 3739 (2019).
pubmed: 31431624
pmcid: 6702156
doi: 10.1038/s41467-019-11672-1
Kaminski, M. M. et al. Direct reprogramming of fibroblasts into renal tubular epithelial cells by defined transcription factors. Nat. Cell Biol. 18, 1269–1280 (2016).
pubmed: 27820600
doi: 10.1038/ncb3437
Papachristou, E. K. et al. A quantitative mass spectrometry-based approach to monitor the dynamics of endogenous chromatin-associated protein complexes. Nat. Commun. 9, 2311 (2018).
pubmed: 29899353
pmcid: 5998130
doi: 10.1038/s41467-018-04619-5
Wu, D., Potluri, N., Lu, J., Kim, Y. & Rastinejad, F. Structural integration in hypoxia-inducible factors. Nature 524, 303–308 (2015).
pubmed: 26245371
doi: 10.1038/nature14883
Corces, M. R. et al. The chromatin accessibility landscape of primary human cancers. Science 362, eaav1898 (2018).
pubmed: 30361341
pmcid: 6408149
doi: 10.1126/science.aav1898
Jolma, A. et al. DNA-dependent formation of transcription factor pairs alters their binding specificity. Nature 527, 384–388 (2015).
pubmed: 26550823
doi: 10.1038/nature15518
Smith, C. C. et al. Endogenous retroviral signatures predict immunotherapy response in clear cell renal cell carcinoma. J. Clin. Invest. 128, 4804–4820 (2018).
pubmed: 30137025
pmcid: 6205406
doi: 10.1172/JCI121476
Zapatka, M. et al. The landscape of viral associations in human cancers. Nat. Genet. 52, 320–330 (2020).
pubmed: 32025001
pmcid: 8076016
doi: 10.1038/s41588-019-0558-9
Syafruddin, S. E. et al. A KLF6-driven transcriptional network links lipid homeostasis and tumour growth in renal carcinoma. Nat. Commun. 10, 1152 (2019).
pubmed: 30858363
pmcid: 6411998
doi: 10.1038/s41467-019-09116-x
Larson, M. H. et al. CRISPR interference (CRISPRi) for sequence-specific control of gene expression. Nat. Protoc. 8, 2180–2196 (2013).
pubmed: 24136345
pmcid: 3922765
doi: 10.1038/nprot.2013.132
Meuleman, W. et al. Index and biological spectrum of human DNase I hypersensitive sites. Nature 584, 244–251 (2020).
pubmed: 32728217
pmcid: 7422677
doi: 10.1038/s41586-020-2559-3
Schödel, J. et al. Common genetic variants at the 11q13.3 renal cancer susceptibility locus influence binding of HIF to an enhancer of cyclin D1 expression. Nat. Genet. 44, 420–425 (2012).
pubmed: 22406644
pmcid: 3378637
doi: 10.1038/ng.2204
Yao, X. et al. VHL deficiency drives enhancer activation of oncogenes in clear cell renal cell carcinoma. Cancer Discov. 7, 1284–1305 (2017).
pubmed: 28893800
doi: 10.1158/2159-8290.CD-17-0375
Musgrove, E. A., Caldon, C. E., Barraclough, J., Stone, A. & Sutherland, R. L. Cyclin D as a therapeutic target in cancer. Nat. Rev. Cancer 11, 558–572 (2011).
pubmed: 21734724
doi: 10.1038/nrc3090
Wykoff, C. C. et al. Gene array of VHL mutation and hypoxia shows novel hypoxia-induced genes and that cyclin D1 is a VHL target gene. Br. J. Cancer 90, 1235–1243 (2004).
pubmed: 15026807
pmcid: 2409644
doi: 10.1038/sj.bjc.6601657
Platt, J. L. et al. Capture-C reveals preformed chromatin interactions between HIF-binding sites and distant promoters. EMBO Rep. 17, 1410–1421 (2016).
pubmed: 27506891
pmcid: 5048371
doi: 10.15252/embr.201642198
Gordan, J. D. et al. HIF-α effects on c-Myc distinguish two subtypes of sporadic VHL-deficient clear cell renal carcinoma. Cancer Cell 14, 435–446 (2008).
pubmed: 19061835
pmcid: 2621440
doi: 10.1016/j.ccr.2008.10.016
Grampp, S. et al. Genetic variation at the 8q24.21 renal cancer susceptibility locus affects HIF binding to a MYC enhancer. Nat. Commun. 7, 13183 (2016).
pubmed: 27774982
pmcid: 5079059
doi: 10.1038/ncomms13183
Hoefflin, R. et al. HIF-1α and HIF-2α differently regulate tumour development and inflammation of clear cell renal cell carcinoma in mice. Nat. Commun. 11, 4111 (2020).
pubmed: 32807776
pmcid: 7431415
doi: 10.1038/s41467-020-17873-3
Gordan, J. D., Bertout, J. A., Hu, C.-J., Diehl, J. A. & Simon, M. C. HIF-2α promotes hypoxic cell proliferation by enhancing c-Myc transcriptional activity. Cancer Cell 11, 335–347 (2007).
pubmed: 17418410
pmcid: 3145406
doi: 10.1016/j.ccr.2007.02.006
Grampp, S. et al. Multiple renal cancer susceptibility polymorphisms modulate the HIF pathway. PLOS Genet. 13, e1006872 (2017).
pubmed: 28715484
pmcid: 5536434
doi: 10.1371/journal.pgen.1006872
The GTEx Consortium. The GTEx Consortium atlas of genetic regulatory effects across human tissues. Science 369, 1318–1330 (2020).
pmcid: 7737656
doi: 10.1126/science.aaz1776
Bouchard, M. Nephric lineage specification by Pax2 and Pax8. Genes Dev. 16, 2958–2970 (2002).
pubmed: 12435636
pmcid: 187478
doi: 10.1101/gad.240102
Perez-Riverol, Y. et al. The PRIDE database and related tools and resources in 2019: improving support for quantification data. Nucleic Acids Res. 47, D442–D450 (2019).
pubmed: 30395289
doi: 10.1093/nar/gky1106