Over a decade ago, as the Human Genome Project completed its mapping of the entire human genome, hopes ran high that we would rapidly be able to use our knowledge of human genes to tackle many inherited diseases, and understand what makes us unique among animals. But things didn't turn out that way. For a start, we turned out to have far fewer genes than originally thought – just over 20,000, the same sort of number as a fruit fly or worm. What's more, the proportion of DNA consisting of genes coding for proteins was a mere 2%. So, was the rest of the genome accumulated 'junk'?
Things have changed since those early heady days of the Human Genome Project. But the emerging picture is if anything far more exciting. In The Deeper Genome, John Parrington explains the key features that are coming to light – some, such as the results of the international ENCODE programme, still much debated and controversial in their scope. He gives an outline of the deeper genome, involving layers of regulatory elements controlling and coordinating the switching on and off of genes; the impact of its 3D geometry; the discovery of a variety of new RNAs playing critical roles; the epigenetic changes influenced by the environment and life experiences that can make identical twins different and be passed on to the next generation; and the clues coming out of comparisons with the genomes of Neanderthals as well as that of chimps about the development of our species. We are learning more about ourselves, and about the genetic aspects of many diseases. But in its complexity, flexibility, and ability to respond to environmental cues, the human genome is proving to be far more subtle than we ever imagined.
Introduction: How the Genome Lost Its Junk
1: The Inheritors
2: Life as a Code
3: Switches and Signals
4: The Spacious Genome
5: RNA Out of the Shadows
6: It's a Jungle in There!
7: The Genome in 3D
8: The Jumping Genes
9: The Marks of Lamarck
10: Code, Non-Code, Garbage, and Junk
11: Genes and Disease
12: What Makes us Human?
13: The Genome That Became Conscious
Conclusion: The Case for Complexity
John Parrington is an Associate Professor in Molecular and Cellular Pharmacology at the University of Oxford, and a Tutorial Fellow in Medicine at Worcester College, Oxford. He is the author of Redesigning Life (2016), and has published over 80 peer-reviewed articles in science journals including Nature, Current Biology, Journal of Cell Biology, Journal of Clinical Investigation, The EMBO Journal, Development, Developmental Biology, and Human Reproduction. He has extensive experience writing popular science, having published articles in The Guardian, New Scientist, Chemistry World, and The Biologist. As a British Science Association Media Fellow he worked as a science journalist at The Times for 7 weeks where he published 22 articles. He has also written science reports for the Wellcome Trust, British Council, and Royal Society.
"It's a game-changer and a masterpiece for anyone interested in biology."
– Times Higher Education, Charalambos P. Kyriacou
" [...] a good primer on the subtlety and complexity of the genome, especially the human genome, new facets of which emerge on a regular basis from labs around the world."
– The Scientist, Bob Grant
"The Deeper Genome [...] provides an elegant, accessible account of the profound and unexpected complexities of the human genome, and shows how many ideas developed in the 20th century are being overturned."
– New Scientist, Clare Ainsworth
"A compelling book that will enrich your knowledge of genetics and its potential."
– New York Journal of Books
"Overall, this is a faithful, engaging portrait of the twenty-first-century genome"
– Nature, Nathaniel Comfort
"This is a brilliant book – a wonderfully entertaining history of molecular biology and the surprises and controversies of a field still very much in flux, from early explorations to the emerging realisation that the human genome may be far more sophisticated than we ever imagined."
– John Mattick, Director, Garvan Institute of Medical Research