The Mysterious World of the Human Genome

The Mysterious World of the Human Genome
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How could a relatively simple chemical code give rise to the complexity of a human being? How could our human genome have evolved? And how does it actually work?Over the past 50 years we have deciphered the inner workings of the human genome. From the basic structure of DNA through to the complete sequence of the code, what first appeared to be simple is actually a complex and beautiful three-dimensional world that makes each of us who we are.In The Mysterious World of the Human Genome acclaimed science writer Frank Ryan leads us through the most exciting scientific discoveries of the last 50 years, revealing how this science has unlocked the cure of some genetic diseases, developed the use of DNA in forensic science and paternity testing, helped us trace our ancestors and provided a definitive map for the movement of humans out of Africa. This scientific journey has had a profound impact on our understanding of the evolution of life itself, through the role of the most ancient of organisms in our basic biology all the way to the revelation that our most recent ancestor, Homo neanderthalensis, lives on in many of us.In the ever more complicated world of the human genome, this is the first book to explain how the human genome actually works as a whole and how that knowledge will have a profound effect on our understanding of where we have come from and where we are likely to be going in the future.

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William Collins

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London SE1 9GF

WilliamCollinsBooks.com

This eBook first published in Great Britain by William Collins in 2015.

Text © FPR-Books Ltd 2015

Diagrams by Mark Salwowski

Frank Ryan asserts his moral right to be identified as the author of this work.

A catalogue record for this book is available from the British Library.

Cover design by Jo Walker

Cover design © HarperCollinsPublishers 2015

All rights reserved under International and Pan-American Copyright Conventions. By payment of the required fees, you have been granted the non-exclusive, non-transferable right to access and read the text of this e-book on-screen. No part of this text may be reproduced, transmitted, down-loaded, decompiled, reverse engineered, or stored in or introduced into any information storage and retrieval system, in any form or by any means, whether electronic or mechanical, now known or hereinafter invented, without the express written permission of HarperCollins.

Source ISBN: 9780007549061

eBook Edition © June 2015 ISBN: 9780007549078

Version: 2016-03-02

To Oswald T. Avery

Possibly I am a scientist because I was curious when I was young. I can remember being ten, eleven, twelve years old and asking, ‘Now why is that? Why do I see such a peculiar phenomenon? I would like to understand that.’

LINUS PAULING

No special act of creation, no spark of life was needed to turn dead matter into living things. The same atoms compose them both, arranged only in a different architecture.

JACOB BRONOWSKI,THE IDENTITY OF MAN

Bronowski begins his more famous book, The Ascent of Man, with the words, ‘Man is a singular creature. He has a set of gifts which make him unique among the animals: so that, unlike them, he is not a figure in the landscape – he is a shaper of the landscape.’ But why should we humans have become shapers of the landscape rather than mere figures inhabiting it? We differ from, say, a sea horse or a cheetah because our genetic inheritance, the sum of the DNA that codes for us, is different in humans when compared to the horse or the cheetah. We call this the genome, or, to be more specific in our case, the human genome.

Our genome defines us at the most profound level. That same genome is present in every one of the approximately 100,000 billion cells that make us who we are as individual members of the human species. But it runs deeper than that. In more personal terms, in myriad tiny variations that we each possess and are individual to us only, it is the very essence of us, all that, in genetic and hereditary terms, we have to contribute to our offspring, and through them to the sum total evolutionary inheritance of our species. To understand it is to know, in the most intimate sense, what it means to be human. No two people in the world today have exactly the same genome. Even identical twins, who will have been conceived with exactly the same genome, will have developed tiny differences between their genomes by the time of their births: differences that may have arisen in parts of their genomes that don’t actually code for what we normally mean by genes.

How strange to realise that there is actually more to our individual genome than genes alone. But let us put aside such details for the moment to focus on the more general theme. How could a relatively simple chemical code give rise to the complexity of a human being? How could our human genome have evolved? How does it actually work? Immediately we are confronted by mysteries.

To answer these questions we need to explore the genome’s basic structure, its operating systems and its mechanisms of expression and control. Some readers might react with incredulity. Surely any such exploration promises a journey into extraordinary complexity, one that is far too obscure and scientific for a non-scientist reader? In fact this book is aimed at exactly such a reader. As we shall see, the basic facts are easy enough to grasp, and the way to grasp them is to break the exploration into a series of simple, and eminently logical, stages. This journey will lead us through a sequence of remarkable revelations about our human history – even into the very distant past of our ancestors’ lives and their prehistoric exploration of our beautiful life-giving planet.



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