The renal lineage factor PAX8 controls oncogenic signalling in kidney cancer.


Journal

Nature
ISSN: 1476-4687
Titre abrégé: Nature
Pays: England
ID NLM: 0410462

Informations de publication

Date de publication:
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

999-1006

Subventions

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

Auteurs

Saroor A Patel (SA)

MRC Cancer Unit, University of Cambridge, Hutchison/MRC Research Centre, Cambridge Biomedical Campus, Cambridge, UK.
Wellcome Sanger Institute, Cambridge, UK.

Shoko Hirosue (S)

MRC Cancer Unit, University of Cambridge, Hutchison/MRC Research Centre, Cambridge Biomedical Campus, Cambridge, UK.

Paulo Rodrigues (P)

MRC Cancer Unit, University of Cambridge, Hutchison/MRC Research Centre, Cambridge Biomedical Campus, Cambridge, UK.

Erika Vojtasova (E)

MRC Cancer Unit, University of Cambridge, Hutchison/MRC Research Centre, Cambridge Biomedical Campus, Cambridge, UK.

Emma K Richardson (EK)

MRC Cancer Unit, University of Cambridge, Hutchison/MRC Research Centre, Cambridge Biomedical Campus, Cambridge, UK.
Division of Medical Oncology, National Cancer Centre Singapore, Singapore, Singapore.

Jianfeng Ge (J)

MRC Cancer Unit, University of Cambridge, Hutchison/MRC Research Centre, Cambridge Biomedical Campus, Cambridge, UK.

Saiful E Syafruddin (SE)

MRC Cancer Unit, University of Cambridge, Hutchison/MRC Research Centre, Cambridge Biomedical Campus, Cambridge, UK.
UKM Medical Molecular Biology Institute, Universiti Kebangsaan Malaysia, Jalan Yaacob Latiff, Bandar Tun Razak, Malaysia.

Alyson Speed (A)

MRC Cancer Unit, University of Cambridge, Hutchison/MRC Research Centre, Cambridge Biomedical Campus, Cambridge, UK.

Evangelia K Papachristou (EK)

Cancer Research UK Cambridge Institute, University of Cambridge, Robinson Way, Cambridge, UK.

David Baker (D)

Quadram Institute Bioscience, Norwich Research Park, Norwich, UK.

David Clarke (D)

Cambridge Genomics Laboratory, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.

Stephenie Purvis (S)

Cambridge Genomics Laboratory, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.

Ludovic Wesolowski (L)

MRC Cancer Unit, University of Cambridge, Hutchison/MRC Research Centre, Cambridge Biomedical Campus, Cambridge, UK.

Anna Dyas (A)

MRC Cancer Unit, University of Cambridge, Hutchison/MRC Research Centre, Cambridge Biomedical Campus, Cambridge, UK.

Leticia Castillon (L)

MRC Cancer Unit, University of Cambridge, Hutchison/MRC Research Centre, Cambridge Biomedical Campus, Cambridge, UK.
Translational Cancer Medicine Program, Faculty of Medicine, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland.

Veronica Caraffini (V)

MRC Cancer Unit, University of Cambridge, Hutchison/MRC Research Centre, Cambridge Biomedical Campus, Cambridge, UK.

Dóra Bihary (D)

MRC Cancer Unit, University of Cambridge, Hutchison/MRC Research Centre, Cambridge Biomedical Campus, Cambridge, UK.

Cissy Yong (C)

Department of Surgery, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.
Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.

David J Harrison (DJ)

School of Medicine, University of St Andrews, St Andrews, UK.

Grant D Stewart (GD)

Department of Surgery, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.

Mitchell J Machiela (MJ)

Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.

Mark P Purdue (MP)

Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.

Stephen J Chanock (SJ)

Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.

Anne Y Warren (AY)

Department of Histopathology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.

Shamith A Samarajiwa (SA)

MRC Cancer Unit, University of Cambridge, Hutchison/MRC Research Centre, Cambridge Biomedical Campus, Cambridge, UK.

Jason S Carroll (JS)

Cancer Research UK Cambridge Institute, University of Cambridge, Robinson Way, Cambridge, UK.

Sakari Vanharanta (S)

MRC Cancer Unit, University of Cambridge, Hutchison/MRC Research Centre, Cambridge Biomedical Campus, Cambridge, UK. sakari.vanharanta@helsinki.fi.
Translational Cancer Medicine Program, Faculty of Medicine, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland. sakari.vanharanta@helsinki.fi.
Department of Physiology, Faculty of Medicine, University of Helsinki, Helsinki, Finland. sakari.vanharanta@helsinki.fi.

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