Chromosomes Today: Volume 11

405 Pages·1993·41.18 MB·English

by  A. T. Sumner, A. C. Chandley (auth.)

Chromosomes Today
Volume 11
C H R O M O S O M ES T O D AY
VOLUME 11
A.T. SUMNER AND A.C. CHANDLEY
MRC Human Genetics Unit
Western General Hospital
Edinburgh
UK
SPRINGER-SCIENCE+BUSINESS MEDIA, B.V.
First edition 1993
© 1993 Springer Science+Business Media Dordrecht
Originally published by Chapman & Hall in 1993
Softcover reprint of the hardcover 1st edition 1993
Suffolk
ISBN 978-94-010-4660-2 ISBN 978-94-011-1510-0 (eBook)
DOI 10.1007/978-94-011-1510-0
Apart from any fair dealing for the purposes of research or private study, or criticism
or review, as permitted under the UK Copyright Designs and Patents Act, 1988, this
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accuracy of the information contained in this book and cannot accept any legal
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A catalogue record for this book is available from the British Library
Library of Congress Cataloging-in-Publication data available
Contents
Colour plates appear facing pages 12, 13, 192 and 193
List of conference members ix
Preface XXI
OPENING LECTURE 1
1 From chromosome number to chromosome map:
the contribution of human cytogenetics to genome mapping 3
M.A. Ferguson-Smith
CHROMOSOME STRUCTURE 21
2 Molecular cloning and characterization of human centromeric
autoantigen CENP-C: a component of the inner kinetochore plate 23
W. C. Earnshaw, H. Saitoh, 1. E. Tomkiel, CA. Cooke,
R. L. Bernat, H. Ratrie, M. Maurer and N. F. Rothfield
3 Characterization of the telomeric region of human
chromosome 16p 35
D.R. Higgs, A.O.M. Wilkie, P. Vyas, M.A. Vickers, V.J. Buckle
and P. C Harris
4 The vertebrate genome: isochores and chromosomal bands 49
G. Bernardi
THE NUCLEOLUS 61
5 Ribosomal genes and nucleolar morphology 63
F. Wachtler, W. Mosgoller, C Schafer, 1. Sylvester, P. Hozak,
M. Derenzini and A. Stahl
6 Nucleolar proteins during mitosis 79
D. Hernandez-Verdun, P. Roussel and T. Gautier
7 Ribosomal RNA gene expression and localization in cereals 91
A.R. Leitch and 1.5. Heslop-Harrison
8 Compartmentalization of the cell nucleus: case of the nucleolus 101
I. Raska and M. Dundr
v
Contents
EVOLUTION 121
9 Chromosomal divergence and speciation in grasshoppers 123
C.M. Hewitt
10 Chromosomal variation in the Sceloporus grammicus complex
(Sauria, Phrynosomatidae) 137
1. W. Sites, Jr
CANCER 1~
11 Deletions of chromosome 5 in malignant myeloid disorders 151
M.M. Le Beau
12 Chromosomal abnormalities in solid tumours 163
S. Heim
13 Non-radioactive in situ hybridization to metaphase and
interphase nuclei of malignant cells 171
R. Berger
GENOME ANALYSIS 181
14 Microdissection of GTG-banded chromosomes and
PCR-mediated cloning 183
U. Claussen, H. -1. Liidecke, H. Spielvogel, H. Telenius, H. -CO Hennies,
C. Senger, A. Reis, A. Mazur and B. Horsthemke
15 Molecular cytogenetics - biology and applications in
plant breeding 191
1.S. Heslop-Harrison and T. Schwarzacher
16 Molecular organization of genes and repeats in the large cereal
genomes and implications for the isolation of genes by
chromosome walking 199
R. B. Flavell, M. D. Gale, M. O'Dell, H. Lucas, G. Moore and
C. Murphy
17 Fragile sites and unstable elements 215
R.I. Richards and C.R. Sutherland
18 The' AZF' -function of the human Y chromosome during
spermatogenesis 227
P. Vogt, R. Keil and S. Kirsch
SEX CHROMOSOMES 241
19 Unpaired sex chromosomes and gametogenic failure 243
P. S. Burgoyne and S. K. Mahadevaiah
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Contents
20 Mammalian sex determination: what we have learnt from a
chromosomal design fault 265
P. Koopman
21 Evolution of the mammalian XY pairing segment 277
W. Schempp and R. Toder
MEIOSIS AND ANEUPLOIDY 285
22 The questionable role of the synaptonemal complex in
meiotic chromosome pairing and recombination 287
J. Loidl
23 Meiotic nodules in vascular plants 301
S.M. Stack, J.D. Sherman, L.K. Anderson and L.S. Herickhoff
24 The origin of non-disjunction in humans 313
T. Hassold and S. Sherman
25 Studies on maternal age-related aneuploidy in mammalian
oocytes and cell cycle control 323
U. Eichenlaub-Ritter
26 Minisatellite mutation and recombination 337
J.A.L. Armour, D.G. Monckton, D.L. Neil, M. Crosier,
K. Tamaki, A. Macleod and A.J. Jeffreys
27 The M26 homologous recombination hotspot: sequences,
factors and chromosomal context 351
W.P. Wahls and G.R. Smith
IMPRINTING AND METHYLATION 365
28 Parental imprinting and epigenetic programming of the mouse
genome: long lasting consequences for development and
phenotype 367
W. Reik, H. Sasaki, A. Ferguson-Smith, R. Feil, L. Bowden,
J. Pen berth , A. Surani, I. Gurtmann and J. Klose
29 Methylated DNA-binding proteins and chromatin structure 377
R. Meehan, J. Lewis, P. Jeppesen and A. Bird
30 Rye B chromosome transmission depends on the B, the carrier
of the B and the mother of the carrier 391
M.J. Puertas, M. M. Jimenez and F. Romera
Index 401
vii
Conference members
Abeliovich, D. Department of Human Genetics, Hadassah University Hospital,
Ein Kerem, Jerusalem, Israel 91120.
Abulhasan, S.J. 22 Winton Drive, Lister House, Glasgow G12 OQA, UK.
Acar, H. Duncan Guthrie Institute of Medical Genetics, Yorkhill, Glasgow,
G3 8SJ, UK.
Adler, I.-D. GSF-lnstitut fur Siiugetiergenetik, lngolstiidter Landstr. 1, D-
8042, Neuherberg, Germany.
Agoulnik, S. lnstitut fur Biologie, Medizinische Universitat zu Lubeck, Ratze
burger Allee 160, D-2400 Lubeck, Germany.
Anamthawat-J6nsson, K. Icelandic Agricultural Research Institute, Keldnaholt,
Reykjavik, IS-112, Iceland.
Andersson, A. Department of Genetics, University of Gothenburg, Box
33031, S-40033 Gothenburg, Sweden.
Arana, P. Departamento de Genetica, Facultad de Biologia, Universidad
Complutense, 28040 Madrid, Spain.
Archidiacono, N. Istituto di Genetica, Via Amendola 165/A, 70126 Bari, Italy.
Armour, J. Department of Genetics, University of Leicester, Adrian Building,
University Road, Leicester, LEI 7RH, UK.
Arnardottir, A. Cytogenetics Laboratory, Department of Pathology, University
of Iceland, PO Box 1465, IS-12l Reykjavik, Iceland.
Arnason, U. The Wallenberg Laboratory, Box 7031, S-220 07, Lund, Sweden.
Ashley, T. Department of Genetics, Yale University School of Medicine, New
Haven, CT 06510, USA.
Avivi, I. Department of Human Genetics, Sackler School of Medicine, Tel
Aviv University, Ramat Aviv, 69978 Israel.
Bar-Am, I. Department of Human Genetics, Sackler School of Medicine, Tel
Aviv University, Ramat Aviv 69978, Israel.
Belyaev, N. Department of Anatomy, Medical School, University of Birming
ham, Edgbaston, Birmingham, BI5 2TT, UK.
Bennett, M.D. Jodrell Laboratory, Royal Botanic Gardens, Kew, Richmond,
TW9 3DS, UK.
Bennett, S.T. Jodrell Laboratory, Royal Botanic Gardens, Kew, Richmond,
TW9 3DS, UK.
Berger, R. INSERM U 301, Institut de Genetique Moleculaire, 27 rue Juliette
Dodu, 75010 Paris, France.
ix
Conference members
Bernardi, G. lnstitut Jacques Monod, Laboratoire de Genetique Moleculaire,
Tour 43, 2 Place Jussieu, 75005 Paris, France.
Beverstock, G.C. Department of Human Genetics, Sylvius Laboratory, Wasse
naarseweg 72, 2333AL Leiden, The Netherlands.
c.c.
Bianchi, N.O. 1MBlCE, 526e/lOyll, 403, 1900 La Plata, Argentina.
Bianchi, U. Dipartimento di Biologia Animale, Universita di Modena, Viale
Berengario, u14, 41100 Modena, Italy.
Bickmore, W.A. MRC Human Genetics Unit, WGH, Crewe Road, Edinburgh,
EH4 2XU, UK.
Bizzaro, D. Dipartimento di Biologia Animale, Viale Berengario 14, 41100
Modena, Italy.
Bocian, E. Cytogenetics Laboratory, Addenbrooke's Hospital, Cambridge,
UK.
Borodin, P.M. Institute of Cytology & Genetics, Novosibirsk 630090, Russia.
Bougourd, S.M. Department of Biology, University of York, York Y01 5DD,
UK.
Bouza Fernandez, C. Departamento Biologia Fundamental, Universidad de
Santiago, 27002 Lugo, Spain.
Boyd, E. Department of Medical Genetics, Royal Hospital for Sick Children,
Yorkhill, Glasgow G3 8SJ, UK.
Brandham, P. lodrell Laboratory, Royal Botanic Gardens, Kew, Richmond,
TW9 3DS, UK.
Brandt, C. Institute of Human Genetics, The Bartholin Building, Aarhus
University, DK-8000 Aarhus C. Denmark.
Brice, A.J. Glaxo Group Research, Park Road, Ware, Herts SG12 ODP, UK.
Britton-Davidian, J. Laboratoire Genetique et Environnement, Institut des
Sciences de l'Evolution, Universite Montpellier II, Place E Bataillon, 34095
Montpellier Cedex OS, France.
Brown, T. Medical Genetics, Medical School, ARI, Foresterhill, Aberdeen
AB9 2ZD, UK.
Burgoyne, P.S. MRC Mammalian Development Unit, Wolfson House, 4
Stephenson Way, London NW1 2HE, UK.
Buys, C.H.C.M. Department of Medical Genetics, University of Groningen,
A Deusinglaan 4, NL 9713 AW Groningen, The Netherlands.
Cabrero Hurtado, J. Departamento de Genetica, Facultad de Ciencias, Uni
versidad de Granada, 18071 Granada, Spain.
Calabrese, G. Istituto di Biologia e Genetica, Facolta di Medicina, Via dei
Vestini, 1-66013 Chieti Scalo, Italy.
Callimassia, M.A. lodrell Laboratory, Royal Botanic Gardens, Kew, Richmond,
TW9 3DS, UK.
Camacho, J.P.M. Departamento de Genetica, Facultad de Ciencias, Universi
dad de Granada, 18071 Granada, Spain.
Capanna, E. Dipartimento di Biologia Animale edell' Uomo, Universita di
Roma 'La Sapienza', Via A. Borelli 50,1-00161 Rome, Italy.
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Contents
Ceoloni, C. Department of Agrobiology and Agrochemistry, University of
Tuscia, 01100 Viterbo, Italy.
Chaki, R. Genetic Institute, Cheba Medical Center, Tel Hashomer 52621,
Israel.
Chandley, A.C. MRC Human Genetics Unit, WGH, Crewe Road, Edinburgh,
EH4 2XU, UK.
Cinti, C. Istituto di Citomorfologia Normale e Patologica del CNR, c/o Istituto
di Ricerche 'Codivilla Putti', Via di Barbiano 1/10,40136 Bologna, Italy.
Clarke, C. Cytogenetics Laboratory, Middlesbrough General Hospital,
Middlesbrough, Cleveland, TS5 5AZ, UK.
Claussen, U. Institut fUr Humangenetik und Anthropologie, Schwabachanlage
10, 8520 Erlangen, Germany.
Cohn, M. Department of Molecular Genetics, Solve gat an 29, S-223 62 Lund,
Sweden.
Coulaud, J. E.S.V. Bat 362, Universite Paris Sud, F 91405 Orsay Cedex,
France.
Couzin, D. Medical Genetics, Polwarth Building, Foresterhill, Aberdeen,
AB9 2ZD, UK.
Dahoun-Hadorn, S. Division de Genetique Medicale, CMU, 1 rue Michel
Servet, 1211 Geneva 4, Switzerland.
Danford, N. Microptic Ltd, University Innovation Centre, Singleton Park,
Swansea, SA2 8PP, UK.
Darmency, M. Institut National de Recherche Agronomique, Amelioration
des Plantes, BV 1540, 21034 Dijon, France.
De Bragan~a, K. Institut fUr Humangenetik, Wilhelmstrasse 31, 0-5300 Bonn
1, Germany.
De Ca-bo, S.F. Departamento Biologia, Unidad de Genetica, Modulo C-XV,
Facultad de Ciencias, Universidad Autonoma de Madrid, Cantoblanco,
28049 Madrid, Spain.
De France, H.F. Klinisch Genetisch Centrum Utrecht, Postbus 18009, 3501
CA Utrecht, The Netherlands.
Del Coco, R. Istituto di Citomorfologia Normale e Patologica del CNR, c/o
Istituto di Ricerche 'Codivilla Putti', Via di Barbiano 1/10, 40136 Bologna,
Italy.
Del Porto, G. Cattedra di Genetica Medica Universita 'La Sapienza', Via
Portuense, 292, 00149 Rome, Italy.
Donini, P. Department of Agrobiology and Agrochemistry, University of
Tuscia, 01100 Viterbo, Italy.
Dotan, A. Department of Human Genetics, Sackler School of Medicine, Tel
Aviv University, Ramat Aviv, Tel Aviv, Israel.
Douar, A.M. INSERM U342, Hospital St Vincent de Paul, 75014, Paris,
France.
Duncan, A.M.V. Cytogenetics Laboratory, Doran I., Kingston General Hospital,
76 Stuart Street, Kingston, Ontario, K7L 2V7, Canada.
XI
Conference members
Earnshaw, W. Department of Cell Biology and Anatomy, John Hopkins
School of Medicine, 725 North Wolfe Street, Baltimore, MD 21205, USA.
Eichenlaub-Ritter, U. UniversiHit Bielefeld, Fakultat fUr Biologie, Gentech
nologie-Mikrobiologie, Postfach 100131, 4800 Bielefeld 1, Germany.
Eizenga, G.C. USDA-ARS, Agronomy Department, University of Kentucky,
Lexington, KY 40546-0091, USA.
Ellis, M. Digital Scientific, 14 Millers Yard, Mill Lane, Cambridge CB2 IRS,
UK.
Ellis, P.M. Lothian Area Cytogenetics Laboratory, Royal Hospital for Sick
Children, Edinburgh, EH9 lLF, UK.
Evans, E.P. MRC Radiobiology Unit, Chilton, Didcot, Oxon OXll ORD,
UK.
Evans, ".J. MRC Human Genetics Unit, WGH, Crewe Road, Edinburgh,
EH4 2XU, UK.
Everett, C.A. MRC Radiobiology Unit, Chilton, Didcot, Oxon OXll ORD,
UK.
Falconi, M. Istituto di Citomorfologia Normale e Patalogica, c/o Istituto di
Ricerca 'Codivilla Putti', Via di Barbiano 1/10, 40136 Bologna, Italy.
Falistocco, E. Istituto Miglior Genetico Piante Foraggere CNR, Borgo XX
Giugno, Perugia, Italy.
Fantes, J. MRC Human Genetics Unit, WGH, Crewe Road, Edinburgh, EH4
2XU, UK.
Farabegoli, F. c/o Prof. F. Lampert, Kinderklinik, Feulgen Strasse 12, 6300
Giessen, Germany.
Fasciani, R. Strada Colle Scorrano 98,65100 Pescara (PE), Italy.
Febles, R. Jardin Botanico 'Viera y CIavijo', Apartado 14, de Tafira Alta,
35017 Las Palmas de Gran Canaria (Canary Islands), Spain.
Feldman, M. Department of Plant Genetics, The Weizmann Institute of
Science, Rehovot 76 100, Israel.
Fennell, S.J. Department of Cytogenetics, Royal Manchester Childrens Hospital.,
Pendlebury, Manchester M27 1H A, UK.
Ferguson-Smith, M.A. Department of Pathology, Cambridge University, Tennis
Court Road, Cambridge CB2 lQP, UK.
Ferguson-Smith, M.E. Department of Cytogenetics, Addenbrooke's Hospital,
Hills Road, Cambridge CB2 2QQ, UK.
Fernandez Garcia, R.M. Departamento de Psicologia, Facultad de Human
idades, La Zapateira sin, La Corufia, Spain.
Fernandez-Peralta, A.M. Departamento de Biologia, Unidad de Genetica,
Facultad de Ciencias, C-XV, Universidad Autonoma de Madrid, Cantoblanco,
28049 Madrid, Spain.
Ferraro, M. Dipartimento di Genetica e Biologia Molecolare, Universita di
Roma 'La Sapienza', P.Ie Aldo Moro 5, 00185 Rome, Italy.
Fitchett, M. Department of Medical Genetics, Churchill Hospital, Headington,
Oxford OX3 7LJ, UK.
XII