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Ancient DNA: Recovery and Analysis of Genetic Material from Paleontological, Archaeological, Museum, Medical, and Forensic Specimens PDF

274 Pages·1994·15.501 MB·English
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Preview Ancient DNA: Recovery and Analysis of Genetic Material from Paleontological, Archaeological, Museum, Medical, and Forensic Specimens

Ancient DNA Bernd Herrmann Susanne Hummel Editors Ancient DNA Recovery and Analysis of Genetic Material from Paleontological, Archaeological, Museum, Medical, and Forensic Specimens With 50 Illustrations Springer-Verlag New York Berlin Heidelberg London Paris Tokyo Hong Kong Barcelona Budapest Bernd Herrmann Susanne Hummel InslitUi rur Anlhropologie Inslitul rur Anlhropologie Univcrsitiil COllingen Universitiil COllingen 37073 COllingen, Cermany 37073 COllingen, Cennany Cover an plUl'ided by Prof. Dr. Bernd Herrmann. Library of Congress Cataloging-in-Publication Data Ancienl DNA : recovery and analysis of geroetic material from paleontological, arcllaeological, museum. medical. and forensic specimens' editors. Bernd Herrmann, Susanroe Hummel. p. em. Includes bibliograpllical refereoces and illdell. ISBN-13: 978-0-381-94308-4 e-ISBN-13: 978-1-4612-4318-2 DOl: 10.10071978-1-4612-4318-2 I. DNA. Fossil. I. Herrmann. Bernd. II. Hummel. Susanne. [QP620.AB 1994b] 574.87'3282- dc20 94-11352 Printed on acid-free paper. © 1994 Springer-Verlag New York Inc. Softcover reprint orlhe harcover 1s l edition 1994 All rights reserved. Tllis work may nO{ be translated or copied in whole or in pan witllout tile written pennission of the publisller (Springer-Verlag New York, Inc., 175 Fifth Avenue, New York, NY ]0010. USA) excepl for brief ellcerplS in connection with reviews or scholarly analysis. Use in connection with any fonn of infonnation storage and retrieval, electronic adaptation, computer softw.lre. or by similar or dissimilar methodology now known or lIereafter developed is forbidden. Tile use of geroeral descriptive names, trade names, trademarks, etc., in this publication, even jf tile fonner are not especially identified, is not to be taken as a sign Illat such names. as understood by the Trade Marks and Mercllalldise Marks Act. may accordingly be used freely by anyone. Acquiring editor: Roben C. Garber Production managed by Theresa Kornak. manufacluring supervised by Jacqui AsIITi Typeset by Thomson Press India Ltd .. New Dellli 9 8 7 6.5 4 32] Preface When we began our attempts to clone DNA from archaeological specimens of bones in 1986 we were not successful, either with DNA or with funding. We assume that other scholars had similar experiences. Since that time, the field of ancient DNA recovery and analysis has developed into one of the most exciting approaches to studying the past. Application of polymerase chain reaction (peR) technology to ancient DNA has revolutionized the field within the past few years. Interest in recovering DNA from unconventional material, particularly old specimens, has ranged from the purely scientific to very practical applications, such as law enforcement and medicine. We are pleased that many of the "first generation" scholars involved in ancient DNA research have contributed to this book. It is our intention to present a general overview of the field before the diversity of disciplines and scientific questions separates workers too much from central issues and themes. We express our thanks to the contributors and also to the organizations that provided funds to support this research in the days before the remarkable successes that are described in this book were demonstrated. Their faith in "high risk" enterprises is vital to the health of scholarly endeavor. Bernd Herrmann Susanne Hummel Gottingen, Germany 31 May 1992 v Contents Preface V Contributors IX Introduction BERND HERRMANN and SUSANNE HUMMEL Access to Kinship and Evolution DN A Fingerprinting 2 Simple Repeat Loci as Tools for Genetic Identification 13 JORG T. EpPLEN Evolutionary Analysis 3 Spatial and Temporal Aspects of Populations Revealed by Mitochondrial DNA . . . . . . . . . . . . . . . . . . . . 31 FRANCIS X. VILLABLANCA Sample Preparation and Analysis 4 General Aspects of Sample Preparation 59 SUSANNE HUMMEL and BERND HERRMANN Fixed and Embedded Samples 5 Screening for Pathogenic DNA Sequences in Clinically Collected Human Tissues . . . . . . . . . 69 WAYNE W. GRODY 6 DNA from Amber Inclusions .................... 92 GEORGE O. POINAR, JR., HENDRIK N. POINAR, and RAUL J. CANO Wet Samples 7 DNA Analysis of the Windover Population 104 WILLIAM W. HAUSWIRTH, CYNTHIA D. DICKEL, and DA VID A. LAWLOR VII Vlll Contents Frozen Samples 8 DNA from Arctic Human Burials 122 HENRIK NIELSEN, JAN ENGBERG, and INGOLF THUESEN Dried Samples: Body Fluids 9 DNA Typing of Biological Evidence Material 141 GEORGE F. SENSABAUGH Dried Samples: Sofi Tissues 10 DNA from Museum Specimens 149 ALAN COOPER 11 DNA from Herbarium Specimens. . . . . . . . . . . . . . . 166 JOHN W. TAYLOR and ERIC C. SWANN 12 High-Fidelity Amplification of Ribosomal Gene Sequences from South American Mummies . . . . . . . . . . . . 182 PETER K. ROGAN and JOSEPH J. SALVO Dried Samples: Hard Tissues 13 Mitochondrial DNA from Ancient Bones 195 ERIKA HAGELBERG 14 Y-Chromosomal DNA from Ancient Bones 205 SUSANNE HUMMEL and BERND HERRMANN 15 Genomic DNA from Museum Bird Feathers 211 HANS ELLEGREN 16 DNA and RNA from Ancient Plant Seeds .. 218 FRANCO ROLLO, FRANCO MARIA VENANZI, and AUGUSTO AMICI Fossil Samples 17 DNA from Plant Compression Fossils 237 EDWARD M. GOLENBERG Index 257 Contributors AUGUSTO AMICI Dipartimento di Biologia, Universita degli Studi di Camerino, 1-62032 Camerino, Italy RAUL 1. CANO Biological Sciences Department, California Polytechnic State University, San Luis Obispo CA 93407, USA ALAN COOPER Molecular Genetics Laboratory, National Zoological Park, Washington, DC 20008, USA CYNTHIA D. DICKEL Departments of Immunology and Medical Microbiology, University of Florida, Gainesville, FL 32610, USA HANS ELLEGREN Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences, S-75007 Uppsala, Sweden JAN ENGBERG The Royal Danish School of Pharmacy, Department of Biological Sciences, DK-2100 Copenhagen, Denmark JORG T. EpPLEN Molekulare Humangenetik, Gebaude MA, 5.0G Nord, Ruhr-Universitat Bochum, D-4630 Bochum, Germany EDWARD M. GOLEN BERG Department of Biological Sciences, Wayne State University, Detroit, MI 48202, USA IX x Contributors WAYNE W. GRODY Division of Medical Genetics and Molecular Pathology, and Diagnostic Molecular Pathology Laboratory, Department of Pathology and Laboratory Medicine, UCLA School of Medicine, Los Angeles, California 90024-1732, USA ERIKA HAGELBERG MRC Molecular Haemotology Unit, Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DU, UK WILLIAM W. HAUSWIRTH Departments of Immunology and Medical Microbiology, University of Florida, Gainesville, FL 32610, USA BERND HERRMANN Institut fUr Anthropologie, Universitat G6ttingen, 37073 G6ttingen, Germany SUSANNE HUMMEL Institut fUr Anthropologie, Universitat G6ttingen, 37073 G6ttingen, Germany DA VID A. LAWLOR Department of Immunology, University of Texas, M.D. Anderson Cancer Center, Houston, TX 77030, USA HENRIK NIELSEN Department of Biochemistry B, The Panum Institute, University of Copenhagen, DK-2200 Copenhagen N, Denmark GEORGE O. POINAR JR. Department of Entomological Science, University of California - Berkeley, Berkeley, CA 94720, USA HENDRIK N. POINAR Biological Sciences Department, California Polytechnic State University, San Luis Obispo, CA 93407, USA PETER K. ROGAN The Milton S. Hershey Medical Center, Department of Pediatrics, Pennsylvania State University, Hershey, 17033, USA FRANCO ROLLO Dipartimento di Biologia Molecolare, Cellulare Animale, University of Camerino, 1-62032 Camerino, Italy Contributors xi JOSEPH J. SALVO Environmental Research Center, General Electric Co., Research & Development Center, Schenectady, NY 12301-0008, USA GEORGE F. SENSABAUGH Forensic Science Group, Department of Biomedical and Environmental Health Sciences, School of Public Health, University of California - Berkeley, Berkeley, CA 94720, USA ERIC C. SWANN Department of Plant Biology, University of California - Berkeley, Berkeley, CA 94720, USA JOHN W. TAYLOR Department of Plant Biology, University of California - Berkeley, Berkeley, CA 94720, USA INGOLF THUESEN The Carsten Niebuhr Institute, University of Copenhagen, DK-2300 Copenhagen, Denmark FRANCO VENANZI Dipartimento di Biologia, Universita degli Studi di Camerino, 1-62032 Camerino, Italy FRANCIS X. VILLABLANCA Department of Integrative Biology and Museum of Vertebrate Zoology, University of California, Berkeley, CA 94720, USA 1 Introduction BERND HERRMANN and SUSANNE HUMMEL The detection of high molecular organic compounds in ancient remains has turned out to open a new research area with many implications, the most important being the extraction of ancient DNA (aDNA) (to be characterized below) from fossils, subfossil remains, artifacts, traces from biological sources, and museum specimens. Since this technique provides access to the basic molecules of organismic evolution, it opens up the possibility of studying evolution at the molecular level over a principally unlimited time scale. It should not be forgotten that knowledge on the preservation of nucleic structures and nucleic acids has been available for a surprisingly long time. As early as the beginning of our century, scholars of plant biology tried to sprout seeds from excavations after they had succeeded in demonstrating nucleic materials by staining old plant tissues. Although not purposely, similar evidence of nucleic materials was obtained in microscopic (histo chemical) inspections by the pioneers of human paleopathology investigating ancient mummified remains. Successful extraction of aDNA and aRNA was carried out, presumably for the first time, by a Chinese team from rib cartilage of the Old Lady of Mawangtui, a corpse preserved for almost 2,000 years (Hunan Medical College 1980). The introduction of molecular cloning techniques initiated a breakthrough in the search for aDNA. The first successful amplification of aDNA from animal tissues, reported by Higuchi et al. (1984), was soon followed by molecular cloning of aDNA from Egyptian mummies (Paabo 1985). Unfortunately, this technique required so much aDNA to be extracted from the source that it was (and is) restricted to extraordinarily well-preserved samples. However, the invention of the Polymerase Chain Reaction (PCR) in the mid-1980s (Saiki et al. 1985; Mullis and Fallona 1987) led to a boom in the search for aDNA and aRNA, since it required only traces of target nucleic acid. Thus it became the method of choice for all researchers interested in molecular approaches to the past. In fact, the past in this context includes all eras of biological evolution up to the present, since it turns out that the basic problems in handling DNA traces from recent biological material are

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