Genomic Elements in Health, Disease and Evolution

1. Front Matter

   Pages i-xi

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2. MiRNAs’ Function and Role in Evolution: Under the View of Genomic Enhancement Phenomena

   • Konstantinos Voskarides, Kyriacos Felekkis

   Pages 1-15

3. MicroRNAs in Disease

   • Gregory Papagregoriou

   Pages 17-46

4. piRNAs-Transposon Silencing and Germ Line Development

   • Catherine Demoliou

   Pages 47-81

5. Long Non-coding RNA

   • Monika Gullerova

   Pages 83-108

6. Unveiling Transposable Elements Function to Enrich Knowledge for Human Physiology and Disease Pathogenesis

   • Ioannis S. Vizirianakis, Elsa P. Amanatiadou, Sotirios S. Tezias

   Pages 109-127

7. Copy Number Variation in Human Health, Disease and Evolution

   • Carolina Sismani, Costas Koufaris, Konstantinos Voskarides

   Pages 129-154

8. Mini- and Micro-Satellite Markers in Health, Disease and Evolution

   • Vasiliki A. Galani, Sofia Markoula, Leandros Lazaros, Paris Ladias, Ioannis Georgiou

   Pages 155-193

9. Intron Biology, Focusing on Group II Introns, the Ancestors of Spliceosomal Introns

   • María Dolores Molina-Sánchez, Rafael Nisa-Martínez, Fernando M. García-Rodríguez, Francisco Martínez-Abarca, Nicolás Toro

   Pages 195-219

10. Centromeres in Health, Disease and Evolution

    • Thian Thian Beh, Paul Kalitsis

    Pages 221-245

11. Structure and Functions of Telomeres in Organismal Homeostasis and Disease

    • Penelope Kroustallaki, Sarantis Gagos

    Pages 247-283

12. Proximal Regulatory Elements with Emphasis on CpG Rich Regions

    • Pavlos Fanis

    Pages 285-296

13. Genomic Analysis Through High-Throughput Sequencing

    • Michalis Hadjithomas

    Pages 297-311

14. Back Matter

    Pages 313-315

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Over 98% of the human genome contains non-coding DNA sequences. For many years molecular biologists referred to this component of the genome as the “junk” DNA since it does not code for any “useful” protein product. Over the last years this notion changed significantly as scientists discovered that a large part of this DNA contains various genomic elements that have important roles in cell physiology. Genomic elements such as non-coding RNAs, transposons, splicing RNAs, DNA repeats and others were shown to play a significant role in regulating gene expression. In addition, all these elements were implicated to contribute in the pathogenesis or progression of various human diseases. In this book, the editor will attempt to describe all these genomic elements that constitute the junk DNA of the genome. For every genomic element, the physiologic role in the organism, its role in evolution and any possible involvement in human diseases will be discussed. Additionally, interaction between these elements in normal or pathologic condition will be discussed. Since a large amount of new knowledge is generated daily in regards to these genomic elements, this book will attempt to combine all the information in a single publication that can serve as a reference for future studies. The first part will discuss RNA elements such as microRNAs, long non-coding RNAs, piRNAs and splicing RNAs. The second part of the book will deal with transposons, retrotransposons and DNA transposons. Finally the third part of the book will discuss DNA elements that include DNA repeats, conserved non-coding sequences, distal genomic elements, introns, pseudogenes, CpG islands and telomeres. For miRNAs and CNVs a separate chapter will be dedicated to their role in human diseases since an extensive amount of information exists about these two elements.

• copy number variations
• miRNA genes
• miRNA targets
• natural selection
• non-coding sequences
• transposons

“This is the first time I have seen a volume on genomics from the island of Cyprus. … The chapters are well written, are of high quality, and the references cited reflect an intimate knowledge of current literature. … This is a useful source for an introduction to the noncoding regions of the human genome.” (Krishna Dronamraju, The Quarterly Review of Biology, Vol. 92 (2), June, 2017)

• Department of Life and Health Sciences and University of Nicosia Medical School, University of Nicosia, Nicosia, Cyprus

  Kyriacos Felekkis

• Department of Biological Sciences, Molecular Medicine Research Center, University of Cyprus, Nicosia, Cyprus

  Konstantinos Voskarides

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