Research Profile for Moschonas Nikolaos

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Laboratory of General Biology, Medical Molecular Genetics
Department of Medicine
Research Activity
Human, C10 genomics, FRA10AC1, Neurl1, ADLT Epilepsy, protein interactome
Human genomics offer a dynamic perspective for the elucidation of fundamental biological functions and the analysis of medically important genes, early diagnosis, human variation and population genetic studies, and personalized medicine. In the context of the Human Genome Project we have contributed to human chromosome 10 DNA sequence and comparative analysis by producing a large volume of genetic, cytogenetic, radiation-hybrid and sequence-ready BAC mapping data thus facilitating the identification of novel C10 disease-associated genes. Accordingly, LGI1 was identified as the causative gene for lateral temporal epilepsy and showed that FRA10A folate-sensitive fragile site is associated with a novel gene, FRA10AC1, encoding a unique well-conserved nuclear protein. To elucidate FRA10AC1 function we perform molecular, reverse genetics and integrated -omic studies, and work on the generation of an appropriate mouse model. In parallel, we explore the biological role of Neurl, the mammalian homolog of drosophila neuralized involved in cell differentiation via Notch signalling. We have shown that Neurl1 is an E3 ubiquitin ligase regulating the Notch ligand Jagged1 upon targeting to the plasma membrane. In parallel, we work on the development of an integrated human protein interaction database.
Research Infrastructure
Prof. Nicholas Moschonas, Head of the Laboratory of General Biology (LGB)

Other faculty members of LGB

J. Zarkadis, Assoc. Prof., Molecular Biology
Z. Lygerou, Assoc. Prof., Molec. Cell Biology
D. Spathas, Assoc. Prof., Human Cytogenetics
A. Papachatzopoulou, Assis. Prof., Human Molec Genetics

A. Athanassiadou, Prof. Emeritus, Molecular Genetics
Real-time PCR cycler, cDNA microarrays equip., confocal and fluorescence light microscopes, DNA bioanalyser, mammalian cell culture facilities, animal house, automated DNA sequencer
Research Activities
•FRA10AC1 integrated functional studies using cell and animal models
•Development of an integrated human protein-protein interaction database
•Functional analysis of mouse Neuralized-like (Neurl) gene

•Pavlopoulos et al 2001. neuralized encodes a peripheral membrane protein involved in Delta signalling and endocytosis. Dev Cell 1, 807-816
•Bentley et al 2001. The Physical Maps for Sequencing Human Chr 1, 6, 9, 10, 13, 20 & X. Nature 409:942
•Morante-Redolat et al 2002. Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy. Hum Molec Genet 11:1119
•Staub et al. 2002. The novel EPTP repeat defines a superfamily of proteins with implications in epileptic disorders. Trends Bioch Scie 27:441
•Sarafidou et al 2004. Folate-sensitive fragile site FRA10A is due to an expansion of a CGG-repeat in a novel gene FRA10AC1, encoding a nuclear protein. Genomics 84:69
•Deloukas et al 2004. The DNA sequence and comparative analysis of human Chr 10. Nature 429:375
•Sarafidou & Moschonas 2007. Chromosome 10. Ency Life Sci, Wiley & Sons
•Koutelou et al 2008. Neurl1 Targeted to the Plasma Membrane by N-Myristoylation Regulates the Notch Ligand Jagged1. J Biol Chem 283:3846
•Athanasiadis et al. 2010. Different evolutionary histories of the coagulation factor VII gene in human populations? Ann Hum Genet. 74:34
•Tsafou et al 2011. Reconstruction of the known human protein-protein interaction network from five major literarture-curateddatabases. 7th GRACM International Congress on Computational Mechanics, Athens GR
•Profs G. Chalepakis & C. Delidakis, U. of Crete, Dept. of Biology and IMBB-FORTH (FRA10AC1 and Neurl1 functional analysis, respectively)
•Dr. Th. Sarafidou, U of Thessalia, Dept. of Biochem & Biotech (FRA10AC1 functional analysis, human C10 genomics)
•Dr. M. Klapa, ICE-HT, FORTH-GR (Human protein interactome, FRA10AC1 functional analysis)
•Dr. V. Subramanian, U. of Bath, Dept. of Biology and Biochemistry (FRA10AC1 functional analysis)
•Prof. P. Moral, U. of Barcelona, Dept. of Animal Biology & Anthropology (human population genetics studies)
•Prof. A. Tsakalides, U. of Patras, Dept. of Computer Eng. & Informatics (Human protein interactome)
Additional Information