Biology, Genetics and Bioinformatics Unit – Contact Us

MD Degree in Medicine ( University of Catania , Italy ). Specialty Degree in Medical Genetics (Faculty of Medicine, University of Catania ). PhD in Biochemistry and Molecular Biology ( University of Bari , Italy ). Research Associate Scientist at the Department of Cell and Molecular Biology, Memorial Sloan Kettering Cancer Center , New York , USA (December 1980 – June 1987). Full Professor of Biology and Genetics, Faculty of Medicine, University of Catania . Coordinator of national and international research projects. Director, Specialty School in Medical Genetics, University of Catania (1998 – 2004). Coordinator, PhD Programme in Biology, Genetics, Bioinformatics: Cellular and Molecular Bases of the Phenotype, University of Catania . Member, Internal Evaluation Committee of the University of Catania (1993 – 2001). Component of the Board, Dipartimento di Scienze BioMediche, University of Catania . Scientific Consultant of BioInfosys Srl, a company specialized in databases and datamining. Director, The International School of Advanced Molecular BioMedicine (https://www.bgbunict.it ), of which I have proposed and directed all the courses carried out to date: Molecular and Computational Analysis of the Human Phenotype (2004), Molecular Medicine, Genomics, BioInformatics (2005), Proteomes and Proteins (2006), Stem Cells: Biology, BioTechnology, Medical Applications (2007). We are organizing the course Molecular BioMedicine, Signal Biology, Bionics: An Intriguing Future (2009). Member of: The American Society of Human Genetics; The Italian Association Of Biology and Genetics (AIBG); The Italian Genetic Society (AGI); The Italian Society of Human Genetics (SIGU); The Italian Society For The Study Of Cell Proliferation (SIPC); l’Accademia Gioenia di Catania. The majority of Graduates from our laboratory entered a PhD Programme in Italy or abroad (University of Cambridge , Catania , Edinburgh , L’Aquila , Napoli, Roma, Torino, Trieste ).

Didactic Activities

Full Professor of Biology and Genetics, Faculty of Medicine, University of Catania . Professor of Genetics (1990/1991 – 1991/1992) and Professor of Advanced Genetics (1992/1993 – 1997/1998), Faculty of Mathematical, Physical, Natural (MPN) Sciences, University of Messina , Italy . Professor of Advanced Genetics (1998 / 1999 – 2000 / 2001), Human Genetics (2001 / 2002 – 2003 / 2004), Structural and Functional Genomics (2001/2002-2003/2004), Faculty of MPN Sciences, University of Catania . Since the academic year 2006 / 2007, Professor of Genome and Systems Biology at the Faculty of MPN Sciences of the University of Catania (CdL in Biology, SDA of Cellular and Molecular Biology and of Medical Biology; CdL of Biomolecular Chemistry) and at the Faculty of Pharmacy (CdL of Pharmaceutical Chemistry and Technology). From the academic year 2008 / 2009 I will also teach this course to Students from the Faculty of Medicine ( University of Catania ). Since the academic year 2006 / 2007, Professor of Advanced Biology and Genetics at the Scuola Superiore ( University of Catania ). During the academic year 2007 / 2008, Professor of Medical BioTechnology at the Advanced Master Course on BioTechnology and Molecular Imaging in BioMedicine (University of Catania). During the academic year 1988-1989 I taught Biology and Genetics at the undergraduate level at the Faculty of Medicine of the University of Bari . From 1996 / 1997 to 2004 / 2005, I also taught Biology and Genetics at many undergraduate courses of the Faculty of Medicine of the University of Catania . Finally, I teach Molecular Medical Biology and Molecular Medical Genetics at many Specialty Schools of the Faculty of Medicine and of MPN Sciences of the University of Catania.

Scientific Activity

The main objective of my scientific activity (centered on BioMedicine) has been to contribute to the characterization of the cellular and molecular bases of the human phenotype and of its changes, also due to epigenetic mutations, of the structure of the genome. I’ve been involved in the studies on the structure and functions of the human genome since their beginning in 1979, and I published the papers that described the first human autosomal RFLP (DNA Restriction Fragment Length Polymorphism) (D14S1) (Proceedings of the National Academy of Sciences USA, 1982) and the first RFLP of the human Y chromosome (DYS1) (Science, 1985). I also published a method for directly hybridizing labelled DNA probes to DNA and RNA in agarose gels, which was widely used: accordingly, this paper was highly cited (Anal Biochem, 1982). Recently, the research activity of our group has been focused on the characterization of two Biological Complex Systems, the Transcription Apparatus and the Apoptotic Machinery . By using High Throughput (HT) analysis, we have characterized their Omics (Genomics including that of genes for not coding – RNA; Transcriptomics; Proteomics included the analysis of post – translational modifications; Interactomics; PathoGenomics; PharmacoGenomics) and evolution. Our aim was to characterize the biological functions of these machineries (selected as experimental prototypes), to analyze their involvement in pathology, and to contribute to the design of therapeutic strategies, specific for the molecular targets identified. To achieve our objectives, we use the experimental methodology of contemporary Molecular and Cellular BioMedicine (including HT Technologies) as well as the methods of Computational Biology and BioInformatics.

Selected Publications

•  I Balazs, M Purrello, P Rubistein, B Alhadeff, M Siniscalco. Highly polymorphic DNA s ite DI4SI maps to the region of Burkitt lymphoma translocation and is closely linked to the heavy chain gamma-1 immunoglobulin locus. Proc Natl Acad Sci USA 79: 7396-7399 (1982). Impact Factor (IF): 9.282

•  M Purrello, I Balazs. Direct hybridization of labeled DNA to DNA on agarose gels. Anal Biochem 128: 393-397 (1984). IF: 2.521

•  P Szabo, M Purrello, M Rocchi, N Archidiacono, B Alhadeff, G Filippi, D Toniolo, G Martini, L Luzzatto, M Siniscalco. Cytological mapping of the human G6PD gene distal to the fragile X site suggests a high rate of meiotic recombination accross this site. Proc Natl Acad Sci USA 81: 7855-7859 (1984). IF: 8.933

•  M Purrello, B Alhadeff, D Esposito, P Szabo, M Rocchi, M Truett, F Masiarz, M Siniscalco. T he human genes for hemophilia A and hemophilia B flank the X chromosome fragile site at Xq27.3. EMBO J 4: 725-729 (1985). IF: 7.359

•  M Casanova, P Leroy, C Boucekine, J Weissembach, C Bishop, M Fellous, M Purrello, G F Fiori, M Siniscalco. A human Y-linked DNA polymorphism and its potential for estimating genetic and evolutionary distances. Science 230: 1403-1406 (1985). IF: 10.900

•  M Purrello, S Bettuzzi, C Di Pietro, E Mirabile, R Rimini, M Di Blasi, K H Grzeschik, A Corti, G Sichel. T he gene for SP-40,40, human homolog of rat sulfated glycoprotein 2, rat clusterin, and rat testosterone- repressed prostate message 2, maps to chromosome 8. Genomics 10: 151-156 (1991). IF: 5.809

•  M Purrello. Sonde molecolari . Enciclopedia Medica Italiana , Aggiornamento I alla seconda edizione, quarto volume I****, coll. 6738 – 6800. USES, Edizioni Scientifiche, Firenze (1993).

•  M Purrello, C Di Pietro, E Mirabile, A Rapisarda, R Rimini, A Tinè, L Pavone, S Motta, K H Grzeschik, G Sichel. Physical mapping at 6q27 of the locus for the TATA-box bindin g protein, the DNA-binding subunit of TFIID and a component of SL1 and TFIIIB, strongly suggests that it is single copy in the human genome. Genomics 22: 94-100 (1994). IF: 5.136

•  M Purrello, C Di Pietro, A Rapisarda, S Motta, K H Grzeschik, G Sichel. Localization of the human genes encoding the two subunits of general transcription factor TFIIE. Genomics 23: 253-255 (1994). IF: 5.136

•  M Purrello, C Di Pietro, A Rapisarda, A Viola, C Corsaro, S Motta, K H Grzeschik, G Sichel. Genomic localization of the human gene encoding Dr1, a negative modulator of transcription of class II and class III genes . Cytogenet Cell Genet 75: 186-189 (1996). IF: 3.636

•  M Purrello, C Di Pietro, A Viola, A Rapisarda, S Stevens, M Guermah, Y Tao, C Bonaiuto, A Arcidiacono, A Messina, G Sichel, KH Grzeschik, R Roeder. Genomics and transcription analysis of human TFIID. Oncogene 16: 1633- 1638 (1998). IF: 6.192

•  M Purrello, C Di Pietro, A Rapisarda. Sonde molecolari. Enciclopedia Medica Italiana , seconda edizione,Tomo III, coll. 5523-5549. USES, Edizioni Scientifiche, Firenze (2000).

•  M Purrello, C Di Pietro, A Rapisarda, V Amico, V Giunta, H Engel, S Stevens, Y Hsieh, M Teichman, Z Wang, G Sichel, R Roeder, KH Grzeschik. Genes for human general transcription initiation factors TFIIIB, TFIIIB-Associated Proteins, TFIIIC2, and PTF / SNAPC: functional and positional candidates for tumour predisposition or inherited genetic diseases? Oncogene 20: 4877- 4883 (2001). IF: 6.737

•  C Di Pietro, V Di Pietro, G Emmanuele, A Ferro, T Maugeri, E Modica, G Pigola, A Pulvirenti, M Purrello, M Ragusa, M Scalia, D Shasha, S Travali, V Zimmitti. ANTICLUSTAL: multiple sequence alignment by antipole clustering and linear approximate 1-median computation. In: Proceedings of the IEEE Bioinformatics Conference , CSB 2003, pp 326-336, August 11-14, Standford, California, USA (2003).

•  C Di Pietro, A Ferro, G Pigola, A Pulvirenti, M Purrello, M Ragusa, D Shasha. A NTICLUSTAL: multiple sequence alignment by Antipole clustering. In: Data Mining in Bioinformatics , pp 43-57 . Ed Wang, Zaki, Toivonen, Shasha. Sprinter Verlag, London, England (2004).

•  C Di Pietro, S Piro, G Tabbì, M Ragusa, V Di Pietro, V Zimmitti, F Cuda, M Anello, U Consoli, E Trovato Salinaro, M Caruso, C Vancheri, N Crimi, MG Sabini, GAP Cirrone, L Raffaele, G Privitera, A Pulvirenti, R Giugno, A Ferro, G Cuttone, S Lo Nigro, R Purrello, F Purrello, M Purrello. Cellular And Molecular Effects Of Protons: Apoptosis Induction And Potential Implications For Cancer Therapy. Apoptosis 11: 57- 66 (2006). Pubblicato online dicembre 2005. IF: 4.497

•  A Ferro, R Giugno, G Pigola, A Pulvirenti, C Di Pietro, M Purrello, M Ragusa. Sequence similarity is more relevant than spec ies specificity in probabilistic backtranslation . BMC Bioinformatics 8: 58 (2007). IF: 3.493

•  C Di Pietro, M Ragusa, L Duro, MR Guglielmino, D Barbagallo, A Carnemolla, A Laganà, P Buffa, R Angelica, A Rinaldi, MS Calafato, I Milicia, C Caserta, R Giugno, A Pulvirenti, V Giunta, A Rapisarda, V Di Pietro, A Grillo, A Messina, A Ferro, KH Grzeschik, M Purrello. Genomics, Evolution and Expression of TBPL2, a Member of the TBP Family . DNA Cell Biol 26: 369-385 (2007). IF: 1.861

•  M Purrello, C Di Pietro, M Ragusa, D Barbagallo. La BioInformatica, uno strumento analitico essenziale nella BioMedicina contemporanea . In: Biologia e Genetica , Autori vari, Coordinatori: G De Leo, E Ginelli, S Fasano, Edises, Napoli (2008).

•  C Di Pietro, M Ragusa, D Barbagallo, LR Duro, MR Guglielmino, A Majorana, R Angelica, V Giunta, A Rapisarda, E Tricarichi, M Miceli, A Grillo, B Banelli, I Defferari, S Forte, A Laganà, C Bosco, R Giugno, A Pulvirenti, A Ferro, KH Grzeschik, A Di Cataldo, G Tonini, M Romani, M Purrello. Involvement of GTA protein NC2 b in neuroblastoma pathogenesis suggests that it physiologically participates in the regulation of cell proliferation. Molecular Cancer 7:52 (6 June 2008). IF: 3.580

•  C Di Pietro, M Ragusa, D Barbagallo, LR Duro, MR Guglielmino, A Majorana, R Angelica, S Pernagallo, S Valenti, V D’Agostino, P Triberio, I Tandurella, L Statello, L Tomasello, G Palumbo, P La Cava, G Li Destri, S Lanzafame, V Cafiso, T Bertuccio, M Santagati, F Di Raimondo, S Stefani, B Mishra, M Purrello . The Apoptotic Machinery As A Biological Complex System: Analysis of its Omics, Identification of Candidate Genes for Fourteen Major Types of Cancer, Experimental Validation in CML and Neuroblastoma. BMC Medical Genomics , submitted for publication (2008). IF: nd – Cit: nd.

•  D Barbagallo, S Piro, L Duro, M Ragusa, T Maniscalchi, A Monello, MR Guglielmino, A Majorana, C Di Pietro, MA Rabuazzo, F Purrello, M Purrello. Pathogenomics of The Human Apoptotic Machinery: Identification and Analysis of New Candidate Genes for Type 1 Diabetes. Genome Medicine , to be submitted for publication (2008). IF: nd – Cit: nd.

•  M Ragusa, A Majorana, D Barbagallo, B Banelli, MR Guglielmino, LR Duro, L Statello, C Di Pietro, M Romani, M Purrello . MIRN152, MIRN200B, MIRN338, positional and functional Neuroblastoma candidates, are involved in neuronal differentiation and apoptosis . J Mol Cell Med, to be submitted for publication (2008). IF: 6.807 – Cit: nd.

•  D Barbagallo, L Duro, M Ragusa, MR Guglielmino, A Majorana, A Zappalà, R Parenti, F Cicirata, C Di Pietro, M Purrello. The human gene encoding _______ overlaps with the fourth coding exon of ___________________ and it is involved in ______________: a genomic, evolutive and expression study. Hum Mol Genet , to be submitted for publication (2008). IF: 7.806 – Cit:nd

•  M Ragusa, D Barbagallo, LR Duro, MR Guglielmino, A Majorana, L Tomasello, C Di Pietro, M Purrello. Involvement of the Apoptotic Machinery in Neuroblastoma pathogenesis: a system level study. BMC Systems Biology , in preparation (2008). IF: nd – Cit: nd.

Published Sequences in GenBank

BK005772   

TPA_inf: Pan troglodytes chromosome 15 TATA box binding protein-like 2 mRNA, complete cds

gi|148910842|tpg|BK005772.1|[148910842]

BK005773   

TPA_inf: Mus musculus chromosome 2 TATA box binding protein-like 2 mRNA, complete cds

gi|148910844|tpg|BK005773.1|[148910844]

BK005774   

TPA_inf: Rattus norvegicus chromosome 3 TATA box binding protein-like 2 mRNA, complete cds

gi|148910846|tpg|BK005774.1|[148910846]

BK005775   

TPA_inf: Gallus gallus chromosome 5 TATA box binding protein-like 2 mRNA, complete cds

gi|148910848|tpg|BK005775.1|[148910848]

BK005776   

TPA_inf: Takifugu rubripes TATA box binding protein-like 2 mRNA, complete cds

gi|148910850|tpg|BK005776.1|[148910850]

BK005777   

TPA_inf: Pan troglodytes TATA box binding protein mRNA, complete cds

gi|148910852|tpg|BK005777.1|[148910852]

BK005778   

TPA_inf: Takifugu rubripes TATA box binding protein mRNA, complete cds

gi|148910854|tpg|BK005778.1|[148910854]

BK005779   

TPA_inf: Pan troglodytes chromosome 6 TATA box binding protein-like 1 mRNA, complete cds

gi|148910856|tpg|BK005779.1|[148910856]

BK005780   

TPA_inf: Takifugu rubripes TATA box binding protein-like 1 mRNA, complete cds

gi|148910858|tpg|BK005780.1|[148910858]

DQ448593   

Homo sapiens TATA box binding protein like 2 mRNA, complete cds

gi|90296775|gb|DQ448593.1|[90296775]

NM_001032673   

Takifugu rubripes TBP-related factor 3 (TRF3), mRNA

gi|74095978|ref|NM_001032673.1|[74095978]

NM_001090499   

Xenopus laevis manganese superoxide dismutase (Sod2), mRNA

gi|147899554|ref|NM_001090499.1|[147899554]

NM_001098853   

Gallus gallus TATA box binding protein like 2 (TBPL2), mRNA

gi|149642958|ref|NM_001098853.1|[149642958]

NM_001099292   

Pan troglodytes TBP-like 1 (TBPL1), mRNA

gi|150010555|ref|NM_001099292.1|[150010555]

NM_001099361   

Rattus norvegicus similar to TBP-related factor 3 (LOC680050), mRNA

gi|150247084|ref|NM_001099361.1|[150247084]

NM_001099794   

Takifugu rubripes TATA box binding protein (tbp), mRNA

gi|153792244|ref|NM_001099794.1|[153792244]

NM_001099795   

Takifugu rubripes TATA box binding protein-like 1 (tbpl1), mRNA

gi|153791986|ref|NM_001099795.1|[153791986]

NM_001104606   

Pan troglodytes TATA box binding protein like 2 (TBPL2), mRNA

gi|157265560|ref|NM_001104606.1|[157265560]

NM_001104607   

Pan troglodytes TATA box binding protein (TBP), mRNA

gi|157265562|ref|NM_001104607.1|[157265562]

NM_199047   

Homo sapiens TATA box binding protein like 2 (TBPL2), mRNA

gi|93277103|ref|NM_199047.2|[93277103]

NM_199059   

Mus musculus TATA box binding protein like 2 (Tbpl2), mRNA

gi|39979629|ref|NM_199059.1|[39979629]

CORSI DI 1° LIVELLO

BIOLOGIA E GENETICA (Medicina polo A)

CORSI DI 2 ° LIVELLO

BIOLOGIA GENOMICA E DEI SISTEMI COMPLESSI