Maria Furia
Maria Furia
affiliation: Università di Napoli Federico II
research area(s): Developmental Biology, Genetics And Genomics
Course: Genetics and Molecular Medicine
University/Istitution: Università di Napoli Federico II
Full Professor of Genetics, Department of Structural and Functional Biology, Faculty of Sciences, University of Naples; Teacher and Tutor of the PhD School of Genetics and Molecular Medicine, Faculty of Medicine, University of Naples

- 1971: Doctoral Degree in Biology, summa cum laude, University of Naples.
- 1972/74: Three-year Research Fellowship from the Council of Higher Education, Department of Physiology of the University of Naples, spent at the Zoological Station of Naples, as Guest Researcher
- 1975/79: Four-year Research position of the Department of Genetics, University of Naples, spent as Guest Researcher at the International Institute of Genetics and Biophysics, CNR, Naples

Doctoral Courses:
1980/2000: Course of General Genetics, Faculty of Sciences, School of Biology, University of Naples
2000/present: Course of Advanced Genetics, Faculty of Sciences, School of Biology, University of Naples
1998-present: Course of Advanced and Applied Genetics, School of Biothechnology, University of Naples
Post-Doctoral Courses:
1990-present: Course of Genetic Techniques, Post-graduate School of Applied Biotechnology, Faculty of Sciences, University of Naples, Teacher and Tutor
1985/2001: Teacher and Tutor of the PhD School of Genetics, Faculty of Sciences University of Naples

1983: Three-month Short-term FEBS Fellowship, spent at the Department of Biochemistry, Imperial College, London, in the laboratory of Prof. David M. Glover
1983/84: Two-year Long-Term EMBO Fellowship, spent at the Department of Biochemistry, Imperial College, London, in the laboratory of Prof. David M. Glover
Visiting Professor:
1992: Department of Biology, Indiana University, Bloomington, USA

2006-present: Vice President of the School of Sciences of Technology, University of Naples Federico II
2001/2004: Head of the Department of Genetics, General and Molecular Biology, Faculty of Sciences, University of Naples

CNR, MIUR, PRIN, Telethon, Regione Campania, Fondazione Banco di Napoli
Research activities have always been focused on the study of structure, expression and regulation of genes from higher eukaryotes, mainly using Drosophila melanogaster as a model system.
Current interests are mainly focused on the molecular and functional characterization of the Drosophila minifly/Nop60b (mfl) gene and its human counterpart, the Dkc1 gene. Dkc1 is responsible for the X-linked dyskeratosis congenital disease (X-DC), a complex systemic disorder characterized by cancer susceptibility, failures in ribosome biogenesis, telomere stability, and defects in stem cell formation. Members of the DKC1/mfl gene family are highly conserved from Archaea to mammals and play a key role in several biological processes which include ribosomal biogenesis, RNA pseudouridylation, nucleo-cytoplasmic shuttling, promotion of mRNA translation starting at IRESs, damage response and, in mammals, telomere maintenance. The multifunctional nucleolar protein encoded by the DKC1 gene, named dyskerin, takes part of at least two types of distinct functional complexes: that of H/ACA snoRNPs, involved in rRNA processing and pseudouridylation, and that of the active telomerase. Within the H/ACA snoRNPs, dyskerin associates with NOP10, NHP2 and GAR1 proteins and a molecule of snoRNA carrying the box H/ACA sequence motifs and acts as catalytic pseudouridine synthase. Isomerization of uridines to pseudouridines is one of the most abundant RNA modifications present in eukaryotic cells; although rRNA represents the major target of pseudouridylation, additional RNAs, such as spliceosomal RNAs, tRNAs and mRNAs can be pseudouridylated. Even if the specific function remains elusive, pseudouridylation is believed to influence stability, folding and functionality of RNA molecules. Beyond its catalytic role, dyskerin binding stabilize H/ACA snoRNAs, so that its loss might possibly elicit a variety of effects directly related to drop in snoRNA levels. This issue acquired particular relevance after the recent finding that snoRNAs, beyond their role in pseudouridylation, can act as potential microRNA precursors or be processed into smaller RNA able to regulate alternative splicing.
Considering the significant interest in deciphering the various molecular consequences of pseudouridine synthase failure, we are performing a loss of function analysis of the mfl gene of Drosophila by RNAi in vivo. We found that mfl silencing triggered unexpected effects on wing patterning and cell differentiation, including deviations from normal lineage boundaries, mingling of cells of different compartments, and defects in the formation of the wing margin that closely mimic the phenotype of reduced Notch activity. In parallel, we are studying the specific role played by human dyskerin in cellular stress and damage response.
Angrisani, A1, Turano M 1, Paparo L, Di Mauro C, Furia, M (2011) A new human dyskerin isoform with cytoplasmic localization, Biochim. Biophys Acta , in press

Tortoriello G, de Celis JF, Furia M (2010) Linking pseudouridine synthases to growth, development and cell competition. FEBS J. Aug;277(15):3249-63.
Vicidomini R, Tortoriello G, Furia M, Polese G. (2010) Laser microdissection applied to gene expression profiling of subset of cells from the Drosophila wing disc. J Vis Exp. Apr 30;(38). pii: 1895. doi: 10.3791/1895.
Tortoriello G, Accardo MC, Scialò F, Angrisani A, Turano M, Furia M (2009) A novel Drosophila antisense scaRNA with a predicted guide function. Gene. May 1;436(1-2):56-65. Epub 2009 Feb 20.
Turano M, Angrisani A, De Rosa M, Izzo P, Furia M. (2008) Real-time PCR quantification of human DKC1 expression in colorectal cancer. Acta Oncol.;47(8):1598-9.

Riccardo S, Tortoriello G, Giordano E, Turano M, Furia M. (2007) The coding/non-coding overlapping architecture of the gene encoding the Drosophila pseudouridine synthase. BMC Mol Biol. Feb 28;8:15.
Project Title:
Stress-induced effects on snoRNAs, sno-derived RNAs and pseudouridylation in human and Drosophila cells