Functional Genomics and Epigenetics. Coordinator: Perini

The group’s research regards the definition and characterization of the molecular and epigenetics mechanisms responsible for the arising and progression of paediatric cancer originating from neuronal cells such as Neuroblastoma, Medulloblastoma and Retinoblastoma.

Research themes

The lab has a long-standing experience in the Genetics of Cancer with a particular emphasis on the molecular and epigenetic mechanisms that characterize the arising and progression of childhood tumours such as neuroblastoma, medulloblastoma and retinoblastoma. Studies are conducted using numerous molecular technologies ranging from manipulation of nucleic acids in vitro ( cloning of DNA in propagating and expression vectors) and genomes in vivo (CRISPR/CAS9), genome-wide analyses of transcriptomes (qRT-PCR and RNA-seq), analyses of DNA (methylome) and chromatin modifications ( Immuno-precipitation and ChIP seq) to the analyses of DNA and protein interactions both in vivo and vivo using assays such as Co-IP, PLA (Proximal Ligation Assay), BiFC (Bimolecular Fluorescence Complementation) GST Pull down and EMSA. Finally, studies employ both in vitro and in vivo models such as cell cultures derived from primary tumours and Drosophila melanogaster as an animal system to model identified oncogenetic mechanisms.

Lab members

Prof. Giovanni Perini, Principal Investigator

Dott. Roberto Bernardoni, Senior Scientists

Dott. Federico Manuel Giorgi, RTD-b

Dott.ssa Stefania Purgato postdoctoral fellow

Dott. Giorgio Milazzo postdoctoral fellow

Dott. Paolo Pigini PhD student

Dott. Roberto Ciaccio research assistant

Mrs Donatella Manzoni, Technician

Internship projects (2)

  1. Structural and functional characterization of the MYCN/p53 complex in neuroblastoma and identification of chromatin modifiers that control the MYCN/p53 complex formation
  2. Using the CRISPR/CAS9 genome editing system to study the functional role of the CHAF1A factor in neuroblastoma progression.

Main publications

Wong M, Tee AEL, Milazzo G, Bell JL, Poulos RC, Atmadibrata B, Sun Y, Jing D, Ho N, Ling D, Liu PY, Zhang XD, Hüttelmaier S, Wong JWH, Wang J, Polly P, Perini G, Scarlett CJ, Liu T. The Histone Methyltransferase DOT1L Promotes Neuroblastoma by Regulating Gene Transcription. Cancer Res. 2017 May 1;77(9):2522-2533. doi: 10.1158/0008-5472.

Perini G, Milazzo G, Narayan N, Ekert PG. Letting the breaks off MYCN. Cell Death Differ. 2016 Dec;23(12):1904-1905. doi: 10.1038/cdd.2016.112.

Giordani G, Barraco M, Giangrande A, Martinelli G, Guadagnuolo V, Simonetti G, Perini G, Bernardoni R. The human Smoothened inhibitor PF-04449913 induces exit from quiescence and loss of multipotent Drosophila hematopoietic progenitor cells. Oncotarget. 2016 Aug 23;7(34):55313-55327. doi: 10.18632/oncotarget.10879

Amente S, Milazzo G, Sorrentino MC, Ambrosio S, Di Palo G, Lania L, Perini G, Majello B. Lysine-specific demethylase (LSD1/KDM1A) and MYCN cooperatively repress tumor suppressor genes in neuroblastoma. Oncotarget. 2015 Jun 10;6(16):14572-83

Liu PY, Erriquez D, Marshall GM, Tee AE, Polly P, Wong M, Liu B, Bell JL, Zhang XD, Milazzo G, Cheung BB, Fox A, Swarbrick A, Hüttelmaier S, Kavallaris M, Perini G, Mattick JS, Dinger ME, Liu T. Effects of a novel long noncoding RNA, lncUSMycN, on N-Myc expression and neuroblastoma progression. J Natl Cancer Inst. 2014 Jun 6;106(7). doi: 10.1093/jnci/dju113

Contacts