No title

Volume 34

Advances in Genetics Incorporating Molecular Genetic Medicine Edited by

Jeffrey C.Hall

Jay C.Dunlap

Department of Biology Brandeis University Waltham, Massachusetts

Department of Biochemistry Dartmouth Medical School Hanover, New Hampshire

Associate Editors

Theodore Friedmann

Francesco Giannelli

Department of Pediatrics Center for Molecular Genetics School of Medicine University of California, San Diego La Jolla, California

Division of Medical and Molecular Genetics United Medical and Dental Schools of Guy’s and St. Thomas’ Hospital London Bridge, London SE1 9RT United Kingdom

Academic Press San Diego New York Boston London Sydney Tokyo Toronto

This book is printed on acid-free paper. @ Copyright 0 1996 by ACADEMIC PRESS All Rights Reserved. No part of this publication may be reproduced or transmitted in any form or by any means, electronic or mechanical, including photocopy, recording, or any information storage and retrieval system, without permission in writing from the publisher.

Academic Press, Inc.

525 B Street, Suite 1900, San Diego, California 92101-4495, USA http://www.apnet.com Academic Press Limited 24-28 Oval Road, London NWl 7DX, UK http://www.hbuk.co.uk/ap/ International Standard Serial Number: 0065-2660 International Standard Book Number: 0-12-017634-3 PRINTED IN THE UNITED STATES OF AMERICA 96 97 9 8 9 9 00 O I B C 9 8 7 6 5

4

3 2 1

Antibodies isolated chromosome studies, 329 nonhistone nuclear protein isolation, 228-

229, 238 Apterygotan insects, polyteny occurrence, 6472 Ascarid worms, polytene chromosome occurrence, 97 Asynapsis, homologous chromosomes causes, 173- 174 occurrence, 157-163

Balbiani nuclei, historical perspective, 5, 1516 Balbiani rings historical perspective, 14-15 isolated nuclei, 324-326 springtail chromosomes, 69, 71 Bands chromomere pattern map building basis, 187-190 mapping procedures artificial bands, 212-213 band sizes, 207-212 chromosome morphology relation, 198-202 cytological repeats, 213-215 interbands, 207-213 methods, 202-207 pattern fixation, 190-197 seasonal changes, 300-304 chromosome structure, 2 15-2 19 DNA content, 210-212 infusoria chromosomes, 82-83 number estimation, historical perspective, 12-14 Blastomeres, trophoblast cells, mammalian

polytene chromosome occurrence, 98105 Bristle-forming cells, polyteny occurrence, 4346

Cancer mammalian tumor cells, polytene chromosome occurrence, 105 melanotic pseudotumors, morphology change induction, 306-307, 311 ovarian tumors, Dosophila, 58-59 Cell cycle, historical perspective, 9 Cell incubation, morphology change induction in witro incubation, 297-299 in wivo incubation, 291-297 Chromatids Structure nonpolytene chromosomes, 243-247 polytene chromosomes, 247-260 trophoblast cells, 104-105 synapsis Chromosome variation, 150-157 polyteny morphology, 125- 129 Chromomere pattern band mapping artificial bands, 212-213 band sizes, 207-212 chromosome morphology relation, 198-202 cytological repeats, 213-215 interbands, 207-2 13 methods, 202-207 pattern fixation, 190- 197 historical perspective, 13- 14 map building basis, 187-190 seasonal changes, 300-304 Chromosome fields, spatial organization, 340344

492

Index

Chromosome size bands, chromomere pattern analysis, 207212 historical perspective, 9 nuclei, 260-280 Chromosome stretching, isolated chromosome studies, 330-332 Cloning historical perspective, 20 isolated chromosome studies, 329 Coiling Istanbul hypothesis, 14 longitudinal orientation, 344 Collembolan order, apterygotan insects, polyteny occurrence, 64-72 Conjugation, homologous chromosomes, synapsis relation, 172-173 Cytogenetic maps, see Geqetic mapping

Diptera chromosome types, 130- 136 morphology, 125-127 polyteny occurrence adult ovarian nurse cells, 46-62 banding, 22

Drosophila, 32, 37 form variance, 21-32 heterochromatin morphology variation,

22-23 polyploidy, 32, 37 pupae bristle-forming cells, 43-46 foot pad cells, 37-43 Disease, see Pathology DNA band content, 2 10-2 12 chromomere pattern production, 212-213 chromosome structure, 216-217 elimination, infusoria chromosomes, 75-76, 90-92 structure, 220-224 DNA polymerase, activity studies, isolated chromosomes, 3 27-328

Ecdysterone, puff induction, 15, 238-242, 294 Ecological factors, morphology change induction. 299-305

Electron microscopy, genetic mapping, 202-

207

Evolution, polyteny role, 20, 356

Fibrils, characteristics, 249-256 Fixation technique, banding pattern identification, 190-197 Foot pad cells, polyteny occurrence, 37-43 Fragmentation, infusoria chromosomes, 88-96 Function evolutionary significance, 356 isolated chromosome studies, 320-327 peculiarities, 355-356 physiological development, 356-358

Gastropoda, polytene chromosome occurrence, 97-98 Genetic mapping chromomere pattern analysis, 187-215 band mapping artificial bands, 212-213 band sizes, 207-212 chromosome morphology relation, 198-202 cytological repeats, 213-215 interbands, 207-213 methods, 202-207 pattern fixation, 190-197 map building basis, 187-190 historical perspective, 7, 10-12 Gregarine parasites, morphology change induction, 285-286

Heterochromatin apterygotan insect chromosomes, 7 1 diptera morphology variation, polyteny occurrence, 22-23 historical perspective, 18-19 infusoria chromosomes, 81-82 mammal tumor cells, 105 protein structure, 241 trophohlast cells, 100-103 Histone, structure, 225-242 Historical perspective Balbiani nuclei, 5, 15-16

Index Balbiani rings, 14-15 band number estimation, 12-14 chromomere pattern, 13- 14 chromosome size, 9 cloning, 20 genetic mapping, 7, 10-12 heterochromatin, 18-19 inheritance theory, 7 isolated chromosome studies, 31 1-314 molecular biology, 19 polytene chromosome morphology, 16-1 7 spireme nuclei, 5-9 Homologous chromosomes, synapsis, 157- I74 additional chromosome material effect, 163-165 asynapsis causes, 173- 174 occurrence, 157-163 disturbance-controlled tissue differences, 166-169 factors, 170- 172 interspecific hybrid homologs, 165- 166 meiotic conjugation relation, 172- 173

Incubation-induced change in vitro incubation, 297-299 in vivo incubation, 291-297 Infection chromosome size variation, 279-280 pathologically-induced morphology change, 280-291 gregarine parasites, 285-286 microsporidia, 281-284 viruses, 286-289 Infusoria, polytene chromosome occurrence DNA elimination, 75-76, 90-92 fragmentation, 88-96 nuclear apparatus characterization, 73- 7 5 polytene chromosomes, 76-88 signihcance, 96-97 vegetative macronucleus organization, 8896 Inheritance theory, historical perspective, 7 Insects, see specific order In siru hybridization isolated chromosome studies, 330 trophoblast cells, 104-105 Interbands, see also Bands artificial band relation, 212-213

493

chromosome structure, 215-2 17 historical perspective, 12, 16 size characteristics, 207-212 In vitro studies isolated chromosomes antibody localization, 329 chromosome stretching, 330-332 DNA polymerase activity, 327-328 genome function, 320-327 historical perspective, 3 11-3 14 in situ hybridization, 330 microcloning, 329 restrictase effects, 328 RNA polymerase activity, 328 solution effects hydrogen ions, 318-320 tonicity, 314-318 terminal transferase, 327-328 morphology change induction, cell incubation, 297-299 Isolated chromosomes, in vitro studies antibody localization, 329 chromosome stretching, 330-332 DNA polymerase activity, 327-328 genome function, 320-327 historical perspective, 31 1-3 14 in siru hybridization, 330 microcloning, 329 restrictase effects, 328 RNA polymerase activity, 328 solution effects hydrogen ions, 318-320 tonicity, 314-318 terminal transferase, 327-328 Istanbul hypothesis, coiling patterns, 14

Lepidopteran order, polyteny occurrence, 6263

Mammals, polytene chromosome occurrence trophoblast cells, 98- 105 tumor cells, 105 Mapping, see Genetic mapping Melanotic pseudotumors, morphology change induction, 306-307, 311 Microsporidia, morphology change induction, 28 1-284

494 Molecular hiology, historical perspective, 19 Mollusks, polytene chromosome occurrence, 97-98 Morphology chromatid synapsis-induced variation, 125130, 150-157 chromomere pattern, mapping procedures, 198-202 diptera chromosomes, 22-23, 130-136 historical perspective, 16- 17 pathologically- induced change ecological factor effects, 299-305 infections, 280-291 gregarine parasites, 285-286 microspciridia, 281-284 viruses, 286-289 long-term cell incubation in v i m incubation, 297-299 in vivo incubation, 291-297 melanotic pseudotumors, 306-307, 31 1 mutation effects, 305-31 1 polytene chromosome types, 127-130 polyteny, 125- 127 pompon-like chromosomes, 137-150 Multistrandedness, 174- 187 degrees, 179- 186 evidence, 174-179 incomplete polytenization, 187 Mutations Drosophila embryos, occurrence, 32, 36-57 morphology change induction, 305-31 1 saturation, 13

Nonpolytene chromosomes chromatid structure, 243-247 spatial organization, 332-335 Nucleoli, organization. 16 Nucleus characteristics protozoan nuclear apparatus, 73-75 vegetative macronucleus, 88-96 experimental studies chromosome stretching, 330-332 genome function, 320-327 historical perspective, 311-314 isolated polytene chromosomes antibody localization, 329 DNA polymerase activity, 327-328

Index in sitw hybridization, 330 microcloning, 329 restrictase effects, 328 RNA polymerase activity, 328 terminal transferase, 327-328 solution effects hydrogen ions, 3 18-320 tonicity, 314-318 historical perspective Balhiani nuclei, 5, 15-16 spirerne nuclei, 5-9 size, 260-280 spatial organization interphase nonpolytene nuclei, 332-335 polytene nuclei chromosome fields, 340-344 chromosome polarity, 335-340 ectopic contacts, 351 longitudinal coiling, 344 nuclear architectonics, 353-355 nuclear arrangement, 344-350 three-dimensional structure maintenance, 351-353 Nurse cells chromatid synapsis variation, 153-154 homologous chromosomes, 169 mutations, 56-57 ovarian tumors, 58-59 polyploidy, 51-52 polyteny occurrence, 46-62

Occurrence apterygotan insects, 64-72 ascarid worms, 97 dipteran order adult ovarian nurse cells, 46-62 banding, 22 Dosophila embryo mutations, 32, 37, 56-

57 form variance, 21-32 heterochromatin morphology variation, 22-23 polyploidy, 32-37 pupae bristle-forming cells, 43-46 foot pad cells, 37-43 homologous chromosomes, asynapsis, 157163

Index infusoria DNA elimination, first stage, 75-76 fragmentation, 88- 96 nuclear apparatus characterization, 73-75 polytene chromosomes, 76-88 significance, 96-97 vegetative macronucleus organization, 88-96 lepidopteran order, 62-63 mammals trophoblast cells, 98-105 tumor cells, 105 mollusks, 97-98 orthopteran order, 62-63 plants chrcmosome organization, 110-125 polyploidy, 107- 110 Oenocytes, ploidy appearance, 62-63 Orthopteran order, polyteny occurrence, 6263 Ovaries nurse cells chromatid synapsls variation, 153-154 homologous chromosomes, 169 mutations, 56-57 ovarian tumors. 58-59 polyploidy, 5 1-52 polyteny occurrence, 46-62 tumors, Basophila, 58-59 Overview, 1-20 historical perspective, 2- 11 Balbiani nuclei, 5 cell cycle, 9 chromosomes inheritance theory, 7 origin, 9 size, 9 genetic maps, 7, 10 spireme nuclei, 5-9 research problems, 11-20 Balbiani ring role, 15-16 band number estimation, 12-14 chromosome morphology, 16- 17 cloning methods, 20 cytogenetic maps, 11-12 gene mapping, 1 1-12 heterochromatin role, 18-19 interband activity, 12, 16 molecular biology studies, 19 puff activity, 15-16

495

Parasites, morphology change induction gregarines, 285-286 microsporidia, 281-284 Pathology, morphology change ecological factor effects, 299-305 infections, 280-291 gregarine parasites, 285-286 microsporidia, 281-284 viruses, 286-289 long-term cell incubation in v i m incubation, 297-299 in vivo incubation, 291-297 melanotic pseudotumors, 306-307, 3 11 mutation effects, 305-311 pH, isolated chromosome studies, 3 18-320 Physiology, developmental role, 356-358 Plant cells, polytene chromosome occurrence organization, 110-125 polyploidy, 107-1 10 Polarity, polytene chromosomes, 335-340 Polyploidy Drosophila. 32, 37 homologous chromosomes, 164- 165 insect oenocytes, 62-63 nurse cells, 51-52 plant cells, 107-1 10 polyteny morphology, 125- 127 trophoblast cells, 99- 101 Polyteny occurrence, see Occurrence Pompon-like chromosomes morphology, 137- 150 temperature effects, 154-157 Prevalence, see Occurrence Protein analysis, 17 structure, 225-242 Protozoa infusoria, polytene chromosome occurrence DNA elimination, 75-76 fragmentation, 88-96 nuclear apparatus characterization, 73-75 polytene chromosomes, 76-88 significance, 96-97 vegetative macronucleus organization, 88-96 morphology change induction gregarine parasites, 285-286 microsporidia, 281-284 Puff activity, historical perspective, 15-16

496 Puff (continued) infusoria chromosomes, 84-87 isolated nuclei, 324-326 long-term incubation, 292-294, 298-299 morphology, 137- 150 mutation effects, 309-3 10 plant chromosomes, 119, 123 protein structure, 238-240, 242 springtail chromosomes, 71

Repeats chromomere patterns, 213-215 sources, 95-96 Research problems, 11-20 Balbiani ring role, 15-16 hand number estimation, 12-14 chromosome morphology, 16- 17 cloning methods, 20 cytogenetic maps, 11-12 gene mapping, 11-12 heterochromatin role, 18-19 interhand activity, 12, 16 molecular biology studies, 19 puff activity, 15-16 Restricrase, isolated chromosome studies, 328 RNA structure, 224-225 synthesis, infusoria chromosomes, 87-88 RNA polymerase, activity studies infusuria chromosomes, 9 5 isolated chromosomes, 328

Sex chromosome chromatid synapsis variation, 154-156 diptera morphology, 132-133 long-term incubation, 297 mutation effects, 307-308 pompon-like chromosomes, 140-150 Size chromomere pattern analysis, 207-212 historical perspective, 9 nuclei, 260-280 Somatic synapsis, see Synapsis Spireme nuclei historical perspective, 5-9 infusoria chromosomes, 77 Springtail, chromosome characteristics, 69, 71

Index Stretching, chromosomes, isolated chromosome studies, 330-332 Striation, see Bands Structure, see also Bands chromatids nonpolytene chromosomes, 243-247 polytene chromosomes, 247-260 DNA, 220-224 general characterization, 2 15-2 19 minor components, 242-243 protein, 225-242 RNA. 224-225 Spatial organization interphase nonpolytene nuclei, 332-335 polytene nuclei chromosome fields, 340-344 chromosome polarity, 335-340 ectopic contacts, 351 longitudinal coiling, 344 nuclear architectonics, 3 53-35 5 nuclear arrangement, 344-350 three-dimensional structure maintenance, 351-353 Synapsis chromatids chromosome variation, 150-157 polyteny morphology, 125- 130 homologiius chromosomes additional chromosome material effect, 163- 165 asynapsis Causes, 173- 174 occurrence, 157-163 disturbance-controlled tissue differences, 166-169 factors, 170-172 interspecific hyhrid homologs, 165-166 meiotic conjugation relation, 172- 173

Temperature effects homologous chromosome synapsis, 171 plant chromosomes, 117 polyteny level, 186 pompon-like chromosomes, (54- 157 seasonal size differences, 277-278 Terminal transferase infusoria studies, 95-96 isolated chromosomes studies, 327-328 Transverse striation, see Bands

497

Index Trichogen cells bristle formation, 43-46 long-term incubation, 299 Trophoblast cells, mammalian polytene chro, mosome occurrence, 98-105 Tumors, see Cancer Types, 127-130

Viruses, morphology change induction, 286-

289

X chromosome chromatid synapsis variation, 154-156 diptera morphology, 132-133 long-term incubation, 297 mutation effects, 307-308 pompon-like chromosomes, 140-150