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  PENGUIN BOOKS

  MUTANTS

  Armand Marie Leroi, in addition to many technical articles on evolutionary and developmental biology, has written for the London Review of Books and The Times Literary Supplement. He was appointed Reader in Evolutionary Developmental Biology at Imperial College in 2001 and was also warded the Scientist for the New Century medal by the Royal Institution of Great Britain. Mutants is his first book.

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  Praise for Mutants

  “Armand Leroi is not yet a household name but he soon will be, if Mutants wins the following it deserves. The discovery of a distinguished scientist who can write with such style and flair is cause for rejoicing.”

  —The Independent

  “Leroi has an extraordinarily extensive familiarity with a dazzling range of information… . [He] draws tight his net of wonderful human diversity and gracefully displays its contents, and I am full of admiration … an exquisitely life-enhancing book. It captures what we know of the development of what makes us human… . Read it and marvel.”

  —Nature

  “Leroi’s debut is a gloriously inquisitive and even hopeful journey into the making and unmaking of human beings, a recognition that genetic variation is essential to life even as it bears us down to our graves.”

  —The Village Voice

  “Leroi is a gifted storyteller … he places each mutation in a literary framework.” —TimeOut New York

  “In a series of erudite, gracefully crafted essays, Leroi guides us through a wealth of medical phenomena—both the normal and the shockingly abnormal … he lifts us up from an instinctive horror at the bizarre to a more profound sense of wonder.”

  —The Sunday Times (London)

  “There are three things that lift this book above mere exploitation: the seriousness of Leroi’s scientific investigations; the humane concern he manifests for the suffering of others; and the sensitivity of his aesthetic appreciation of the wonders of nature… . [His] patient unfolding of the mysteries of modern genetics … Poetic, philosophical, profound, witty and challenging, Leroi is, as he says of Goya, a ‘compassionate connoisseur of deformity.”’

  —The Guardian (London)

  “For those who truly wish to know their origins without consulting a dry academic tome, this is a book to read.”

  —The Economist

  “Gracefully written and up-to-date account of the state of the field. His approach is cunning; like a fairground barker, he first appeals to our voyeurism, but then adroitly bends our interests toward the science underlying the mutants… . Mutants roams engagingly through great swathes of literature, mythology, and history… . Well worth reading, not only for its fascinating tales of development, but also for its scrutiny of a vast uncharted area of biology.”

  —Professor Jerry A. Coyne, TLS

  “Leroi writes about the body with Pateresque delicacy; he is an aesthete for whom understanding enhances mystery; an artist who gazes at the dance of genes as the fetus forms itself.”

  —Sunday Telegraph (London)

  “In a book that’s as disturbing as it is enlightening, as unsettling as it is compelling, Leroi examines all sorts of genetic variability in humans and explains how that variability helps scientists understand the processes associated with human growth and development… . Although the subjects Leroi presents—conjoined twins, individuals with cyclopia (a single eye), deformed or missing limbs, abnormal height … often appear grotesque, he approaches all of his topics and each of his human subjects with great respect.”

  —Publishers Weekly (starred review)

  “Once, people with disfiguring or bizarre mutations were thought monstrous. Now they give vital clues to the dance of genes during the body’s growth. Armand Leroi combines meticulous historical research, brand-new genetic understanding, and consummate skill with words to tell an absorbing tale.”

  —Matt Ridley, author of Genome

  “File under: not to be read during pregnancy.”

  —TimeOut London

  “This book is not a smarmy gallery of freaks and monsters … an elegant study … Leroi’s aim is to illuminate, not to titillate … a testament to both the ingenuity of organic life and the protean nature of what it means to be human.”

  —Natural History

  “[A] fascinating and immensely readable book.”

  —Financial Times

  MUTANTS

  On Genetic Variety and

  the Human Body

  ARMAND MARIE LEROI

  PENGUIN BOOKS

  Published by the Penguin Group

  Penguin Group (USA) Inc., 375 Hudson Street, New York, New York 10014, U.S.A.

  Penguin Group (Canada), 90 Eglinton Avenue East, Suite 700, Toronto,

  Ontario, Canada M4P 2Y3 (a division of Pearson Penguin Canada Inc.)

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  Penguin Books Ltd, Registered Offices: 80 Strand, London WC2R 0RL, England

  First published in the United States of America by Viking Penguin, a member of Penguin Group (USA) Inc. 2003

  Published in Penguin Books 2005

  13 15 17 19 20 18 16 14

  Copyright © Armand Marie Leroi, 2003

  All rights reserved

  THE LIBRARY OF CONGRESS HAS CATALOGED THE HARDCOVER EDITION AS FOLLOWS:

  Leroi, Armand Marie.

  Mutants : on genetic variety and the human body / Armand Marie Leroi.

  p. cm.

  Includes bibliographical references and index.

  ISBN 0-670-03110-0 (hc.)

  ISBN 0 14 20.0482 0 (pbk.)

  1. Abnormalities, Human—Genetic aspects—History. 2. Human anatomy—Variation—History. 3. Mutation (Biology)—History. I. Title.

  QM691.L47 2003

  616’.043—dc22 2003057619

  Printed in the United States of America

  Set in Granjon

  Except in the United States of America, this book is sold subject to the condition that it shall not, by way of trade or otherwise, be lent, resold, hired out, or otherwise circulated without the publisher’s prior consent in any form of binding or cover other than that in which it is published and without a similar condition including this condition being imposed on the subsequent purchaser.

  The scanning, uploading and distribution of this book via the Internet or via any other means without the permission of the publisher is illegal and punishable by law. Please purchase only authorized electronic editions, and do not participate in or encourage electronic piracy of copyrighted materials. Your support of the author’s rights is appreciated.

  CONTENTS

  List of Illustrations

  Prologue

  I Mutants (An introduction)

  II A Perfect Join (On embryos)

  III The Last Judgement (On first parts)

  IV Cleppies (On arms and legs)

  V Flesh of my Flesh, Bone of my Bone (On skeletons)

  VI The War with the Cranes (On growth)

  VII The Desire and Pursuit of the Whole (On gender)

  VIII A Fragile Bubble (On skin)

  IX The Sober Life (On ageing)

  X Anthropometamorphosis (An epilogue)r />
  Acknowledgements

  Notes

  Bibliography

  Index

  ILLUSTRATIONS

  Frontispiece to Fortunio Liceti 1634 De monstrorum natura caussis et differentiis. (Wellcome Library, London)

  The Monster of Ravenna (1512). From Ulisse Aldrovandi 1642 Monstrorum historia. (Wellcome Library, London)

  Roberts’s syndrome. Stillborn infant. From B.C. Hirst and G.A. Piersol 1893 Human monstrosities. (Wellcome Library, London)

  Conjoined twins: pygopagus. Judith and Hélène (1701–23). From George Leclerc Buffon 1777 Histoire naturelle générale et particulière. (Wellcome Library, London)

  Conjoined twins: parapagus dicephalus tetrabrachius. Ritta and Christina Parodi (1829). From Étienne Serres 1832 Recherches d’anatomie transcendante et pathologique. (British Library)

  Conjoined twins: parapagus dicephalus dibrachius. Normandy. From Pierre Boaistuau 1560 Histoires prodigieuses. (Wellcome Library, London)

  Conjoined twins: parapagus dicephalus dibrachius. From B.C. Hirst and G.A. Piersol 1893 Human monstrosities. (Wellcome Library, London)

  Conjoined twins: cephalothoracoileopagus. From Étienne Serres 1832 Recherches d’anatomie transcendante et pathologique. (British Library)

  Conjoined twins: situs inversus viscera. Ritta and Christina Parodi. From Étienne Serres 1832 Recherches d’anatomie transcendante et pathologique. (British Library)

  Kartagener’s syndrome. Dissected infant showing situs inversus viscera. From George Leclerc Buffon 1777 Histoire naturelle générale et particulière. (Wellcome Library, London)

  Cyclopia. Stillborn infant, Firme, Italy (1624). From Fortunio Liceti 1634 De monstrorum natura caussis et differentiis. (Wellcome Library, London)

  Cyclops wooing Galatea. From Blaise de Vigenère 1624 Les images Philostratus. (British Library)

  Cyclopia with conjoined twinning. Attributed to Leonardo da Vinci. From Fortunio Liceti 1634 De monstrorum natura caussis et differentiis. (Wellcome Library, London)

  Cyclopia. Stillborn calf. From Willem Vrolik 1844–49 Tabulae ad illustrandam embryogenesin hominis et mammalium tarn naturalem quam abnormem. (Wellcome Library, London)

  Cyclopia. Stillborn infant. From B.C. Hirst and G.A. Piersol 1893 Human monstrosities. (Wellcome Library, London)

  Wild type mouse; sonic hedgehog-defective mouse. (Chin Chiang, Vanderbilt Medical Center)

  Duplication of face in a pig: ‘Ditto’. (Jill Helms, University of California San Francisco)

  Sirenomelia or mermaid syndrome in a stillborn foetus. From B.C. Hirst and G.A. Piersol 1893 Human monstrosities. (Wellcome Library, London)

  Supernumerary neck auricles on goat and satyr. Pan Raping a Goat. Roman copy of Hellenistic original, second–third century BC. (Villa dei Papiri in Herculaneum, National Archaeological Museum, Naples. © 2003, Photo Scala, Florence)

  Supernumerary auricles. Eight-year-old girl, England 1858. From William Bateson 1894 Materials for the study of variation. (Imperial College London)

  Somites in a human embryo. From Franz Keibel 1908 Normentafel zur Entwicklungsgeschichte des Menschen. (Frietson Galis, University of Leiden)

  Phocomelia. Skeleton of Marc Cazotte a.k.a. Pepin (1757–1801). From Willem Vrolik 1844–49 Tabulae ad illustrandam embryogenesin hominis et mammalium tarn naturalem quam abnormem. (Wellcome Library, London)

  Split-hand-split-foot, or ectrodacytly, or lobster-claw syndrome. Girl with radiograph of mother’s foot, England. From Karl Pearsor 1908 ‘On the inheritance of the deformity known as split-foot or lobster claw’. (Biometrika 9:330–1. Author’s collection)

  Acheiropody. An aleijadinho, Brazil 1970s. (Ademar Freire-Maia, UNESP – Paulista State University)

  Phocomelia. Marc Cazotte a.k.a. Pepin (1757–1801). From Willem Vrolik 1844–49 Tabulae ad illustrandam embryogenesin hominis et mammalium tarn naturalem quam abnormem. (Wellcome Library, London)

  Mirror-image polydactyly. From William Bateson 1894 Materials for the study of variation. (Imperial College London)

  Thanatophoric dysplasia. Stillborn infant, Amsterdam c.1847. From Willem Vrolik 1844–49 Tabulae ad illustrandam embryogenesin hominis et mammalium tarn naturalem quam abnormem. (Wellcome Library, London)

  Fibrodysplasia ossificans progressiva. Harry Eastlack (1930–73), USA 1953. (Linda Lindgren, Los Angeles, and Gretchen Worden, Mütter Museum, Philadelphia)

  Fibrodysplasia ossificans progressiva. Harry Eastlack (1930–73). (1990 © Scott Lindgren, courtesy Blast Books, New York)

  Pseudoachondroplasia. Elizabeth Ovitz (1914–92) and siblings. Bat Galim, Israel c.1949. (Yehuda Koren and Eliat Negev, Jerusalem)

  Achondroplasia. Mary Ashberry (d.1856) with skull of stillborn infant. (Linda Lindgren, Los Angeles, and Gretchen Worden, Mütter Museum, Philadelphia)

  Osteogenesis imperfecta type II. Stillborn infant, Amsterdam. (Jan-Roelof Oostra, Vrolik Museum, Amsterdam)

  Pycnodysostosis (putative). Henri Toulouse-Lautrec (1864–1901). (Musée Toulouse-Lautrec, Albi, Tarn, France)

  Pygmy depicted with achondroplasia. Attic red-figure rhyton c.480 BC. (Hermitage, St Petersburg)

  Pituitary dwarfism. Joseph Boruwlaski (1739–1837). Unknown painter (Norodwe Museum, Crakow)

  Pituitary gigantism. Charles Byrne (1761–1783). (Hunterian Museum. Reproduced by kind permission of The Royal College of Surgeons of England)

  Skeletons of Aka pygmy woman, Caucasian male, gorilla. Pygmy skeleton collected by Emin Pasha, Congo 1883. (Wellcome Library, London)

  Negritos. Port Blair, Andaman Islands, 1869–80. E.H. Mann. (Royal Anthropological Institute of Great Britain and Ireland)

  Thibaut-Francesco and Chair-Allah-Luigi, Verona c.1874. From Armand de Quatrefages 1895 The pygmies. (Author’s collection)

  Daru or Taron man. Upper Burma c.1937. From F. Kingdon Ward 1927 Plant hunter’s paradise. (J. Rasmussen and The Royal Geographical Society, London)

  Myxdematous cretins aged about twenty, with normal man. Democratic Republic of Congo (Zaire) c.1968. (François Delange, ICCIDD Brussels)

  Castrato. Senesino singing Handel’s Flavio, London c.1723. Attrib. William Hogarth. (Victoria and Albert Museum, London)

  Proteus syndrome. James Merrick (1862–90). (The London Hospital)

  Hermaphroditus asleep. After Nicholas Poussin 1693. (Wellcome Library, London)

  Female internal genitalia. From Andreas Vesalius 1543 De humani corporis fabrica. (Wellcome Library, London)

  Clitoris and vestibular bulbs. From Georg Ludwig Kobelt 1844 Die Männlichen und Weiblichen Wollusts-Organe des Menschen und Einiger Saugetiere. (Wellcome Library, London)

  Male pseudohermaphroditism. Herculine Barbin (1838–68). From E. Goujon 1869 ‘Étude d’un cas d’hermaphrodisme bisexuel imparfait chez l’homme’. Journal de l’anatomie et de la physiologie normales et pathologiques de l’homme et des animaux 6:599–616 (British Library)

  Oculocutaneous albinism type II. Zulu man, Natal. From Karl Pearson et al. 1913 A monograph on albinism in man. (Wellcome Library, London)

  Linnaeus’ Homo trogylodytes or Bontius’s orang. From Karl Pearson et al. 1913 A monograph on albinism in man. (Wellcome Library, London)

  Oculocutaneous albinism type II. Geneviève. From George Leclerc Buffon 1777 Histoire naturelle générale et particulière. (Wellcome Library, London)

  Piebalding. Marie Sabina, Columbia 1749. From G.L. Buffon 1777 Histoire naturelle générale et particulière. (British Library)

  Piebalding. Lisbey, Honduras 1912. From Karl Pearson et al. 1913 A monograph on albinism in man. (Wellcome Library, London)

  Hypertrichosis lanuginosa. Arrigo Gonsalvus, Rome 1599. Detail from Agostino Carracci Arrigo Peloso, Pietro Matto e Amon Nano. (Capodimonte Museum, Naples. © 2003 Photo Scala, Florence)

  Hypertrichosis lanuginosa. Petrus Gonsalvus, Austria c.1582. Unknown painter, German school. (Sammlungen Schloss Ambras/Kunsthistorische Museum, Vienna. Photograph © Erich Lessing/AKG, London)

  Hypert
richosis lanuginosa. Maphoon, Burma c.1856. E.H. Mann. (Royal Anthropological Institute of Great Britain and Ireland)

  Supernumerary breast on thigh. (Wellcome Library, London)

  Artemis Ephesia in Sweden. Frontispiece of Linnaeus 1761 Fauna svecica. (Wellcome Library, London)

  Luigi Cornaro (1464–1566). Tintoretto. (Galleria Palatine. © 1990 Photo Scala, Florence)

  Skull of an Australian Aborigine, Arnhem Land. From Armand de Quatrefages 1882 Crania ethnica: les cranes des races humaines.

  Variation in human skulls. From Armand de Quatrefages 1882 Crania ethnica: les cranes des races humaines.

  Group of Selk’nam, Tierra del Fuego c.1914. (The Royal Geographical Society, London)

  PROLOGUE

  My mind is bent to tell of bodies

  changed to other forms.

  OVID, Metamorphoses

  This book is about the making of the human body. It is about the devices that enable a single cell buried in the obscure recesses of the womb to develop into an embryo, a foetus, an infant and finally an adult. It provides an answer provisional and incomplete, yet clear in outline, to the question: how do we come to be?

  In part the answer to this question is readily apparent. Our bodies – I hesitate to add our minds – are the products of our genes. At least our genes contain the information, the instruction manual, that allows the cells of an embryo to make the various parts of our bodies. But this answer, so easily given, conceals a world about which we know very little. Genetics, to quote one popular writer on the subject, is a language. ‘It has a vocabulary – the genes themselves – a grammar, the way in which the inherited information is arranged, and a literature, the thousands of instructions needed to make a human being.’ Just so. What he failed to add is that the language of the genes is largely unintelligible.

  On 15 February 2001, an international consortium of scientists reported the complete, or nearly complete, sequence of the human genome. We have, we were told, some thirty thousand genes. There it was, arrayed before us, the instruction manual for making a human. Anyone may read this manual – it is freely available on the Web. But it is hardly worth the bother. The average Englishman may as well attempt the Analects of Confucius in the original for all the wisdom that it imparts. Even geneticists find most of its contents baffling. When they scan the genome they find, here and there, words whose meanings are clear enough. The meaning of others can be guessed at, perhaps because they are cognates of more familiar ones. Some of the grammar, the syntactical rules by which genes combine to give their utterances meaning, is understood as well. But the syntax of genes is vastly more complex, more subtle and nuanced, than that of any language spoken by man. And though its literature is not exactly a closed book, it is one we have scarcely begun to read.