Integrative genomic analyses identify neuroblastoma risk genes involved in neuronal differentiation

Alazami AM, Patel N, Shamseldin HE, Anazi S, Al-Dosari MS, Alzahrani F, Hijazi H, Alshammari M, Aldahmesh MA, Salih MA, Faqeih E, Alhashem A, Bashiri FA, Al-Owain M, Kentab AY, Sogaty S, Al Tala S, Temsah MH, Tulbah M, Aljelaify RF, Alshahwan SA, Seidahmed MZ, Alhadid AA, Aldhalaan H, AlQallaf F, Kurdi W, Alfadhel M, Babay Z, Alsogheer M, Kaya N, Al-Hassnan ZN, Abdel-Salam GM, Al-Sannaa N, Al Mutairi F, El Khashab HY, Bohlega S, Jia X, Nguyen HC, Hammami R, Adly N, Mohamed JY, Abdulwahab F, Ibrahim N, Naim EA, Al-Younes B, Meyer BF, Hashem M, Shaheen R, Xiong Y, Abouelhoda M, Aldeeri AA, Monies DM, Alkuraya FS (2015) Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. Cell Rep 10(2):148–161

Article  CAS  PubMed  Google Scholar 

Atwal JK, Massie B, Miller FD, Kaplan DR (2000) The TrkB-Shc site signals neuronal survival and local axon growth via MEK and P13-kinase. Neuron 27(2):265–277

Article  CAS  PubMed  Google Scholar 

Barbeira AN, Dickinson SP, Torres JM, Bonazzola R, Zheng J, Torstenson ES, Wheeler HE, Shah KP, Edwards T, Garcia T, Consortium G, Nicolae DL, Cox NJ, Im HK (2017) Integrating tissue specific mechanisms into GWAS summary results. bioRxiv 045260. https://doi.org/10.1101/045260

Barbeira AN, Dickinson SP, Bonazzola R, Zheng J, Wheeler HE, Torres JM, Torstenson ES, Shah KP, Garcia T, Edwards TL, Stahl EA, Huckins LM, Nicolae DL, Cox NJ, Im HK, G. T. Consortium (2018) Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics. Nat Commun 9(1):1825

Article  PubMed  PubMed Central  Google Scholar 

Barbieri E, De Preter K, Capasso M, Johansson P, Man TK, Chen Z, Stowers P, Tonini GP, Speleman F, Shohet JM (2013) A p53 drug response signature identifies prognostic genes in high-risk neuroblastoma. PLoS ONE 8(11):e79843

Article  PubMed  PubMed Central  Google Scholar 

Bonfiglio F, Lasorsa VA, Cantalupo S, D’Alterio G, Aievola V, Boccia A, Ardito M, Furini S, Renieri A, Morini M, Stainczyk S, Westermann F, Paolella G, Eva A, Iolascon A, Capasso M (2023) Inherited rare variants in homologous recombination and neurodevelopmental genes are associated with increased risk of neuroblastoma. EBioMedicine 87:104395

Article  CAS  PubMed  Google Scholar 

Bosse KR, Diskin SJ, Cole KA, Wood AC, Schnepp RW, Norris G, le Nguyen B, Jagannathan J, Laquaglia M, Winter C, Diamond M, Hou C, Attiyeh EF, Mosse YP, Pineros V, Dizin E, Zhang Y, Asgharzadeh S, Seeger RC, Capasso M, Pawel BR, Devoto M, Hakonarson H, Rappaport EF, Irminger-Finger I, Maris JM (2012) Common variation at BARD1 results in the expression of an oncogenic isoform that influences neuroblastoma susceptibility and oncogenicity. Cancer Res 72(8):2068–2078

Article  CAS  PubMed  PubMed Central  Google Scholar 

Capasso M, Diskin SJ (2010) Genetics and genomics of neuroblastoma. Cancer Treat Res 155:65–84

Article  CAS  PubMed  Google Scholar 

Capasso M, Devoto M, Hou C, Asgharzadeh S, Glessner JT, Attiyeh EF, Mosse YP, Kim C, Diskin SJ, Cole KA, Bosse K, Diamond M, Laudenslager M, Winter C, Bradfield JP, Scott RH, Jagannathan J, Garris M, McConville C, London WB, Seeger RC, Grant SF, Li H, Rahman N, Rappaport E, Hakonarson H, Maris JM (2009) Common variations in BARD1 influence susceptibility to high-risk neuroblastoma. Nat Genet 41(6):718–723

Article  CAS  PubMed  PubMed Central  Google Scholar 

Capasso M, Diskin S, Cimmino F, Acierno G, Totaro F, Petrosino G, Pezone L, Diamond M, McDaniel L, Hakonarson H, Iolascon A, Devoto M, Maris JM (2014) Common genetic variants in NEFL influence gene expression and neuroblastoma risk. Cancer Res 74(23):6913–6924

Article  CAS  PubMed  PubMed Central  Google Scholar 

Capasso M, McDaniel LD, Cimmino F, Cirino A, Formicola D, Russell MR, Raman P, Cole KA, Diskin SJ (2017) The functional variant rs34330 of CDKN1B is associated with risk of neuroblastoma. J Cell Mol Med 21(12):3224–3230

Article  CAS  PubMed  PubMed Central  Google Scholar 

Capasso M, Lasorsa VA, Cimmino F, Avitabile M, Cantalupo S, Montella A, De Angelis B, Morini M, de Torres C, Castellano A, Locatelli F, Iolascon A (2020) Transcription factors involved in tumorigenesis are over-represented in mutated active DNA-binding sites in neuroblastoma. Cancer Res 80(3):382–393

Article  CAS  PubMed  Google Scholar 

Chou HY, Howng SL, Cheng TS, Hsiao YL, Lieu AS, Loh JK, Hwang SL, Lin CC, Hsu CM, Wang C, Lee CI, Lu PJ, Chou CK, Huang CY, Hong YR (2006) GSKIP is homologous to the Axin GSK3beta interaction domain and functions as a negative regulator of GSK3beta. Biochemistry 45(38):11379–11389

Article  CAS  PubMed  Google Scholar 

Cimmino F, Formicola D, Capasso M (2017) Dualistic role of BARD1 in cancer. Genes (basel) 8(12):375

Article  PubMed  Google Scholar 

Cimmino F, Avitabile M, Diskin SJ, Vaksman Z, Pignataro P, Formicola D, Cardinale A, Testori A, Koster J, de Torres C, Devoto M, Maris JM, Iolascon A, Capasso M (2018) Fine mapping of 2q35 high-risk neuroblastoma locus reveals independent functional risk variants and suggests full-length BARD1 as tumor-suppressor. Int J Cancer 143(11):2828–2837

Article  CAS  PubMed  PubMed Central  Google Scholar 

Cimmino F, Avitabile M, Lasorsa VA, Pezone L, Cardinale A, Montella A, Cantalupo S, Iolascon A, Capasso M (2020) Functional characterization of full-length BARD1 strengthens its role as a tumor suppressor in neuroblastoma. J Cancer 11(6):1495–1504

Article  CAS  PubMed  PubMed Central  Google Scholar 

Cimmino F, Montella A, Tirelli M, Avitabile M, Lasorsa VA, Visconte F, Cantalupo S, Maiorino T, De Angelis B, Morini M, Castellano A, Locatelli F, Capasso M, Iolascon A (2022) FGFR1 is a potential therapeutic target in neuroblastoma. Cancer Cell Int 22(1):174. https://doi.org/10.1186/s12935-022-02587-x

Article  CAS  PubMed  PubMed Central  Google Scholar 

Cooper JA, Kaneko T, Li SS (2015) Cell regulation by phosphotyrosine-targeted ubiquitin ligases. Mol Cell Biol 35(11):1886–1897

Article  CAS  PubMed  PubMed Central  Google Scholar 

de Pontual L, Zaghloul NA, Thomas S, Davis EE, McGaughey DM, Dollfus H, Baumann C, Bessling SL, Babarit C, Pelet A, Gascue C, Beales P, Munnich A, Lyonnet S, Etchevers H, Attie-Bitach T, Badano JL, McCallion AS, Katsanis N, Amiel J (2009) Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease. Proc Natl Acad Sci U S A 106(33):13921–13926

Article  PubMed  PubMed Central  Google Scholar 

Dickey A, Schleicher S, Leahy K, Hu R, Hallahan D, Thotala DK (2011) GSK-3beta inhibition promotes cell death, apoptosis, and in vivo tumor growth delay in neuroblastoma Neuro-2A cell line. J Neurooncol 104(1):145–153

Article  CAS  PubMed  Google Scholar 

Diskin SJ, Capasso M, Schnepp RW, Cole KA, Attiyeh EF, Hou C, Diamond M, Carpenter EL, Winter C, Lee H, Jagannathan J, Latorre V, Iolascon A, Hakonarson H, Devoto M, Maris JM (2012) Common variation at 6q16 within HACE1 and LIN28B influences susceptibility to neuroblastoma. Nat Genet 44(10):1126–1130

Article  CAS  PubMed  PubMed Central  Google Scholar 

Duda P, Akula SM, Abrams SL, Steelman LS, Martelli AM, Cocco L, Ratti S, Candido S, Libra M, Montalto G, Cervello M, Gizak A, Rakus D, McCubrey JA (2020) Targeting GSK3 and associated signaling pathways involved in cancer. Cells 9(5):1110. https://doi.org/10.3390/cells9051110

Article  CAS  PubMed  PubMed Central  Google Scholar 

Duffy DJ, Krstic A, Schwarzl T, Higgins DG, Kolch W (2014) GSK3 inhibitors regulate MYCN mRNA levels and reduce neuroblastoma cell viability through multiple mechanisms, including p53 and Wnt signaling. Mol Cancer Ther 13(2):454–467

Article  CAS  PubMed  Google Scholar 

Emdal KB, Pedersen AK, Bekker-Jensen DB, Tsafou KP, Horn H, Lindner S, Schulte JH, Eggert A, Jensen LJ, Francavilla C, Olsen JV (2015) Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. Sci Signal 8(374):ra40

Article  PubMed  Google Scholar 

Encinas M, Iglesias M, Liu Y, Wang H, Muhaisen A, Cena V, Gallego C, Comella JX (2000) Sequential treatment of SH-SY5Y cells with retinoic acid and brain-derived neurotrophic factor gives rise to fully differentiated, neurotrophic factor-dependent, human neuron-like cells. J Neurochem 75(3):991–1003

Article  CAS  PubMed  Google Scholar 

Finak G, McDavid A, Yajima M, Deng J, Gersuk V, Shalek AK, Slichter CK, Miller HW, McElrath MJ, Prlic M, Linsley PS, Gottardo R (2015) MAST: a flexible statistical framework for assessing transcriptional changes and characterizing heterogeneity in single-cell RNA sequencing data. Genome Biol 16:278

Article  PubMed  PubMed Central 

留言 (0)

沒有登入
gif