Human Chromosomes

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ISBN: 9780387950310 | 0387950311
Cover: Hardcover
Copyright: 10/1/2000

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The fourth edition of this well-known text provides students, researchers and technicians in the area of medicine, genetics and cell biology with a concise, understandable introduction to the structure and behavior of human chromosomes. It covers both basic and up-to-date material on normal and defective chromosomes. This new edition is particularly strengthened by the complete revision of the material on the molecular genetics of chromosomes and chromosomal defects. The mapping and molecular analysis of chromosomes is one of the most exciting and active areas of modern biomedical research, and this book will be invaluable to scientists, students, technicians and physicians with an interest in the function and dysfunction of chromosomes. From the reviews of the third edition: "Each word "tells" in this concise gem of a human cytogenetics text...Superb organization makes this an excellent text...for any cytogenetics course." American Journal of Human Genetics"...the leading textbook in English on human cytogenetics." Cell

Prevace

Origins and Directions of Human Cytogenetics

(12)

Origins: Cytology, Genetics, and DNA Chemistry

(1)

The Midwives of Human Cytogenetics

(1)

The Birth of Clinical Cytogenetics

(2)

The Lyon Hypothesis

(1)

Adolescence: The Chromosome Banding Era

(1)

Somatic Cell Genetics and Chromosome Mapping

(1)

Maturity: The Molecular Era

(2)

References

(3)

The Mitotic Cell Cycle

(16)

The Cell Cycle: Interphase, Mitosis, and Cytokinesis

(2)

Cell Cycle Progression: Cyclins and Cyclin-Dependent Kinases

(3)

Cell Cycle Checkpoints

(1)

Prophase

(2)

Prometaphase, Centrosomes, and the Mitotic Spindle

(1)

Metaphase, Anaphase, and Telophase

(2)

Mondisjunction, Loss of Chromosomes, and Mosaicism

(1)

References

(4)

DNA Replication and Chromosome Reproduction

(16)

Replication Is Semiconservative

(2)

The Chemistry of Replication

(2)

Initiation at Many Sites: Origins of Replication

(2)

Replication Is Precisely Ordered: Replication Banding

(3)

The Control of DNA Replication

(2)

Replication of Chromosome Ends: Telomerase and Cell Aging

(1)

Postreplication Steps: DNA Methylation and Chromatin Assembly

(1)

References

(3)

General Features of Mitotic Chromosomes

(16)

Metaphase Chromosomes

(2)

The Chromosome Complement and Karyotype

(1)

DNA Content and DNA-Based Flow Cytometric Karyotypes

(1)

Centromeres and Kinetochores

(5)

Telomeres

(1)

Nucleolus Organizers and Ribosomal RNA Genes

(1)

Constitutive and Facultative Heterochromatin

(1)

References

(5)

The Chemistry and Packaging of Chromosomes

(18)

DNA Content and the Estimated Number of Base Pairs in the Genome

(1)

Histone Proteins and the Nucleosome

(1)

The Chromosome Scaffold and Chromatin Loops

(4)

Chromosome Domains in the Interphase Nucleus

(1)

The Nuclear Matrix: Replication and Transcription Complexes

(2)

Locus Control Regions and Functional Domains

(1)

Euchromatin and Heterochromatin: Regulation of Gene Function

(1)

Histone Modifications, DNA Methylation, and Chromosome Condensation

(2)

References

(5)

Chromosome Bands

(16)

Q-banding

(1)

C-banding

(2)

G-banding, R-banding, and T-banding

(1)

High-Resolution and Replication Banding

(1)

Banding with Other Fluorochromes and Nonfluorochromes

(2)

Antibody Banding

(1)

Nuclease Banding

(1)

In Situ Hybridization Banding

(1)

Nomenclature of Banded Chromosomes and Abnormal Karyotypes

(3)

References

(3)

Molecular Correlates of Chromosome Bands

(12)

GC- and AT-Rich Isochores

(3)

Unmethylated CpG Clusters and Housekeeping and Tissue-Specific Genes

(1)

Interspersed Repetitive DNA Sequences and Transposable Elements

(1)

Tandemly Repetitive Elements: Telomeres, Centromeres, and Satellite DNAs

100

(1)

Chromosomal Proteins and Chromatin Conformation

101

(2)

Functional Significance of Chromosome Bands

103

(1)

References

103

(4)

In Situ Hybridization

107

(18)

In Situ Hybridization of Repetitive and Unique DNA Sequences

108

(1)

Fluorescence In Situ Hybridization

109

(5)

Replication Timing by FISH

114

(1)

Cloned, PCR-Generated, and In Sit-Generated Probes

114

(2)

Chromosome-, Region-, and Band-Specific Painting Probles

116

(1)

Multicolor FISH, Spectral Karyotyping, and BHar Codes

117

(1)

High-Resolution (Interphase and Fiber) FISH

118

(3)

Comparative Genomic Hybridization

121

(1)

References

121

(4)

Main Features of Meiosis

125

(16)

Prophase I: Leptotenz, Zygotene, Pachytene, Diplotene, and Diakinesis

127

(5)

Chiasmata and Genetic Recombination

132

(1)

Metaphase I, Anaphase I, Telophase I, Interkinesis, and Meiosis II

133

(1)

Female Meiosis: Dicytotene Arrest, Metaphase II Arrest, and Apoptosis

134

(1)

Male Meiosis

135

(1)

Segregation Distortion and Meiotic Drive

136

(1)

Meiotic Behavior of Three Homologous Chromosomes

137

(1)

References

138

(3)

Detail of Meiosis

141

(16)

The Switch from Mitosis to Meiosis

141

(1)

Pairing of Homologous Chromosomes

142

(1)

The Synaptonemal Complex and Recombination Nodules

142

(3)

Nonrandom Distribution of Meiotic Recombination Sites

145

(1)

Molecular Mechanisms of Meiotic Recombination

146

(3)

Meiotic DNA Damage Checkpoint

149

(2)

Absence of a Spindle Assembly Checkpoint in Female Meiosis: Role in Nondisjunction?

151

(1)

References

151

(6)

Meiotic Abnormalities: Abnormal Numbers of Chromosomes

157

(18)

Incidence of Nondisjunction in Meiosis and Gametes

159

(2)

Incidence of Nondisjunction in Spontaneous Abortions, Stillborns, and Liveborns

161

(3)

Causes of Meiotic Nondisjunction

164

(1)

Maternal Age, Recom,bination, and Mechanisms of Nondisjunction

164

(4)

Parental Origin of Aneuploid Gametes

168

(1)

The Origin of Diploid Gametes and Polyploidy

169

(1)

Aneuploidy of Somatic (Mitotic) Origin: Mosacicism

170

(1)

References

171

(4)

Abnormal Phenotypes Due to Autosomal Aneuploidy or Polyploidy

175

(12)

Trisomy 21 and Down Syndrome

176

(2)

Trisomy 18 and Edwards Syndrome

178

(1)

Trisomy 13 and Patau Syndrome

178

(2)

Other Autosomal Aneuploidy Syndromes

180

(1)

Trisomy/Disomy Mosaicism

180

(1)

Triploidy and Tetraploidy

181

(1)

Spontaneous Abortions, Fetal Deaths, and Stillbirths

182

(1)

References

183

(4)

Chromsome Structural Aberrations

187

(20)

Chromosome and Chromatid Breaks and Rearrangements

189

(2)

Deletions (Partial Monosomies), Including Ring Chromosomes

191

(2)

Duplications (Partial Trisomies)

193

(2)

Misdivision of the Centromere: Centric Fusion and Centric Fission

195

(1)

Pericentric and Paracentric Inversions

196

(1)

Reciprocal Translocations

197

(2)

Robertsonian Translocations (RTs)

199

(1)

Intrachromosmal and Interchromosomal Insertions

200

(1)

Complex and Multiple Rearrangements

201

(1)

References

202

(5)

The Causes of Structural Aberrations

207

(2025)

Exogenous Causes of Structural Aberrations

210

(2)

Endogenous Causes of Structural Aberrations

212

(1)

Transposable Elements and Other Interspersed Repeats

213

(2)

Interspersed Repeats as Hotspots for Double-Strand Breaks and Rearrangements

215

(2)

References

217

(6)

Syndromes Due to Autosomal Deletions and Duplications

223

(1)

Cri du Chat (Cat Cry) and Wolf-Hirschhorn Syndromes

224

(3)

Ring Chromosome Phenotypes

227

(1)

The Critical Regions for Deletion (segmental Aneusomy) Syndromes

228

(3)

Miller-Dieker Syndrome

231

(1)

Di George/VelocardiofacialCATCH22 Syndromes

231

(1)

Critical Region for the Charcot-Marie-Tooth Type 1A Duplication Syndrome

232

(1)

Critical Region for Down Syndrome

232

(2)

References

234

(5)

Clinical Importance of Translocations, Inversions, and Insertions

239

(16)

Phenotypes of Balanced Translocation Heteroozygotes (Carriers)

239

(1)

Aberrant Meiotic Segregation in Reciprocal Translocation Carriers

240

(3)

Aberrant Meiotic Segregation in Robertsonian Translocation Carriers

243

(2)

Phenotypes Associated with Unbalanced Duplication/Deficiency Karyotypes

245

(2)

Phenotypes of Inversion Heterozygotes (Carriers)

247

(1)

Aberrantn Meiotic Segregation in Inversion and Insertion Carriers

247

(2)

Sperum Chromosomes in Meiotic Segregation Analysis

249

(2)

References

251

(4)

Sex Determination and the Y Chromosome

255

(12)

The Y Chromsome and Y Heterochromatin: The Y Body

255

(2)

The Two Pseudoautosomal Regions

257

(2)

Sex Determination: Rearrangements Localize the Male-Determining Gene to Yp

259

(1)

SRY, the Only Male-Determihing Gene on the Y Chromosome

260

(1)

Autosomal Genes Involved in Male Sex Determination or Differentiation

261

(1)

Other Genes on the Y Chromosome

262

(1)

References

263

(4)

The X Chromosome, Dosage Compensation, and X Inactivation

267

(16)

The Single Active X (Lyon) Hypothesis

269

(2)

Skewed X Inactivation

271

(1)

The Critical Region for X Inactivation: X Inactivation Center and the XIST Gene

272

(2)

Reactivation of the X chromosome

274

(1)

Regions That Escape X Inactivation: Functioinal Map of the X Chromosome

274

(2)

XiAutosome Translocations and Spreading of Inactivation (Position Effect)

276

(2)

References

278

(5)

Phenotypic Effects of Sex Chromosome Imbalance

283

(12)

Turner syndrome

284

(1)

Is There a Critical Regionfor Turner Syndrome?

285

(2)

Polysomy X

287

(1)

Klinefelter Syndrome

288

(1)

Phenotypes Associated with Multiple Y Karyotypes

288

(1)

Deletions and Duplications of the X Chromosome: Risks Associated with Hemizygosity

289

(2)

XiAutosome and YiAutosome Translocations

291

(1)

References

291

(4)

Fragile Sites, Trinucleotide Repeat Expansion, and the Fragile X Syndrome

295

(14)

Common Fragile Sites: Methjods of Induction

296

(3)

Heritable (Rare) Fragile Sites

299

(1)

FRAXA, the Fragile X syndrome, and the FMR1 Gene

300

(1)

The Fragile X Phenotype Reflects the Number of CCG Repeats

301

(1)

Mechanism of Expansion of Trinucleotide and Other Repeats

301

(1)

Expansion of CCG Premutaion Only in Maternal Meiosis

302

(1)

Mechanism of Inactivation of the FMR1 Gene

303

(1)

Other Trinucleotide Expansion Disorders

303

(2)

References

305

(4)

Euploid Chromosome Aberrations, Uniparental Disomy, and Genomic Imprinting

309

(14)

Uniparental Disomy

309

(1)

Confined Placental Mosaicism and the ORigin of UPD

310

(1)

UPD Can Lead to Homozygsity of a Recessive Disease Gene

311

(1)

UPD Can Lead to Disease Due to a Novel Mechanism: Genomic Imprinting

311

(2)

Three Imprinting Disorders: Beckwith--Wiedemann, Prader--Willi, and Angelman Syndromes

313

(2)

Chimeras, Triploidy, and Tetraploidy

315

(2)

Ovarian Teratomas: both Genomes Maternal in Origin

317

(1)

Hydatidiform Moles: both Genomes Usually Paternal in Origin

318

(1)

References

319

(4)

Chromosome Changes in Cell Differentation

323

(16)

Programmed DNA Loss

324

(1)

Facultative Heterochromatin: chromatin Structure and Gene Expression

324

(1)

Nature and Mechanism of Genomic Imprinting

325

(2)

Tissue-Specific Differences in X Inactivation

327

(1)

Germline-Specific Gene Expression and Sex-Specific Imprinting

328

(1)

Embryonic Inactivation of All but One Centromere per Chromosome

329

(2)

Endoreduplication, Polyploidy, and Polyteny

331

(2)

Triradials, Multiradials, and ICF Syndrome, a Hypomethylation disorder

333

(2)

References

335

(4)

Somatic Cell Hybridization in Cytogenetic Analysis

339

(14)

Cell Fusion

340

(1)

Complementation Analysis in Heterokaryons

340

(1)

Premature chromosome Condensation and Allocycly

341

(2)

Somatic Cell Hybrids

343

(2)

Preferential Human chromosome Loss from Rodent-Human Hybrids

345

(2)

Induced Chromosome Breakage: Radiation Hybrids

347

(1)

Microcell Hybrids

347

(1)

Chromosome and Gene Transfer: Transgenomes and Trangenes

348

(1)

References

349

(4)

Chromosome Instability Syndromes

353

(16)

Bloom Syndrome

354

(2)

Mitotic Recombination or Crossing Over

356

(1)

Frnconi Anemia

357

(2)

Ataxia Telangiectasia: A Cell Cycle Checkpoint Disorder

359

(1)

Related Disorders with Chromosome Instability

360

(3)

References

363

(6)

DNA and Gene Amplification

369

(16)

Double Minutes and Homogeneously Stained Regions

370

(1)

DMs and HSRs Are Expressions of Gene Amplification

370

(4)

Mechanisms of Gene Amplification

374

(5)

How Does Gene Amplification Lead to Cancer?

379

(1)

References

379

(6)

Genome Destabilization and Multistep Progression to Cancer

385

(20)

Immortality of Transformed and Malignant Cells

386

(1)

Genetic Basis of Cancer: Sequential Chromosome or Gene Mutations

387

(2)

Clonal Origin, Selection, and Multistep Tumor Progression

389

(2)

Spindle Aberrations and Instability of Chromosome Number

391

(3)

The Major Mechanism of Spindle Aberrations and Heteroploidy

394

(1)

Structural Chromosome Changes

394

(1)

DNA Damage Checkpoint and Structural Instability of Chromosomes

395

(2)

Other Causes of Structural Instability of Chromosomes

397

(1)

Environmental Causes of Cancer

398

(1)

References

399

(6)

Chromosomes and Cancer: Activation of Oncogenes

405

(10)

Mechanisms of Oncogene Action

406

(1)

Reciprocal Translocations and Oncogenen Activation

407

(2)

How Do Translocations Activate Cellular Oncogenes?

409

(2)

Amplification and Oncogene Activation

411

(2)

Relaxation of Imprinting and Oncogene Activation

413

(1)

References

413

(2)

Chromosomes and Cancer: Inactivation of Tumor Suppressor Genes

415

(16)

Tumor/Nontumor Cell Hybrids: First Evidence for Tumor Suppressor Genes

415

(2)

Allele Loss and Loss of Heterozygosity

417

(1)

Retinoblastoma and the Two-Hit Model of Carcinogenesis

417

(1)

Mechanism of Tumor Suppression by a Functional RB1 Gene

418

(1)

The p53 Tumor Suppressor Gene, TP53

419

(1)

Other Genes That Affect the Cell Cycle

420

(1)

Imprinted Tumor Suppressor Genes

421

(2)

Genes That Suppress Oncogenes or Influences Transcription

423

(2)

Genes That Affect Cell Adhesion

425

(1)

Metastasis Suppressor Genes

426

(1)

References

426

(5)

Mapping Human Chromosomes

431

(16)

Genetic Linkage Maps

432

(3)

Mapping Disease Genes: Family Studies with Genetic Markers

435

(1)

Assignment of Genes to Chromosomes: Synteny Groups

435

(2)

Physical Maps

437

(3)

The Human Genome Project

440

(3)

References

443

(4)

Genome Plasticity and Chromosome Evolution

447

(16)

Genome Plasticity

448

(3)

Evolution of the Autosomes

451

(1)

Evolution of the X and Y Chromosomes: Dosage Compensation

452

(4)

Evolution of Telomeric and Centromeric Regions

456

(1)

References

457

(6)

The Future of Human Cytogenetics

463

(12)

Unsolved Problems

464

(1)

Genome Organization

465

(4)

Directions

469

(1)

New Technology

470

(2)

References

472

(3)

Index

475

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Human Chromosomes

Summary

Table of Contents

Supplemental Materials

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Human Chromosomes

Summary

Table of Contents

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