Human chromosomes:
This is the fourth edition of an acclaimed introductory textbook on the structure and function of human chromosomes. The book is strengthened by the complete revision of material on the molecular genetics of chromosomes and chromosomal defects.
Saved in:
| Main Authors: | , |
|---|---|
| Format: | Book |
| Language: | German |
| Published: |
New York [u.a.]
Springer
2001
|
| Edition: | 4. ed. |
| Subjects: | |
| Online Access: | Inhaltsverzeichnis |
| Summary: | This is the fourth edition of an acclaimed introductory textbook on the structure and function of human chromosomes. The book is strengthened by the complete revision of material on the molecular genetics of chromosomes and chromosomal defects. |
| Item Description: | Literaturangaben. - 3. Aufl. u.d.T.: Therman, Eeva: Human chromosomes |
| Physical Description: | XVI, 501 S. Ill., graph. Darst. |
| ISBN: | 038795046X 0387950311 |
Staff View
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| 100 | 1 | |a Miller, Orlando J. |e Verfasser |4 aut | |
| 245 | 1 | 0 | |a Human chromosomes |c Orlando J. Miller ; Eeva Therman |
| 250 | |a 4. ed. | ||
| 264 | 1 | |a New York [u.a.] |b Springer |c 2001 | |
| 300 | |a XVI, 501 S. |b Ill., graph. Darst. | ||
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| 500 | |a Literaturangaben. - 3. Aufl. u.d.T.: Therman, Eeva: Human chromosomes | ||
| 520 | 3 | |a This is the fourth edition of an acclaimed introductory textbook on the structure and function of human chromosomes. The book is strengthened by the complete revision of material on the molecular genetics of chromosomes and chromosomal defects. | |
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| 650 | 7 | |a Citogenética |2 larpcal | |
| 650 | 7 | |a Cromossomos humanos |2 larpcal | |
| 650 | 7 | |a Medische genetica |2 gtt | |
| 650 | 7 | |a Mensen |2 gtt | |
| 650 | 4 | |a Chromosome Aberrations | |
| 650 | 4 | |a Chromosomes, Human | |
| 650 | 4 | |a Cytogenetics | |
| 650 | 4 | |a Human chromosome abnormalities | |
| 650 | 4 | |a Human chromosomes | |
| 650 | 4 | |a Human cytogenetics | |
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Record in the Search Index
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| adam_text | Contents
Preface v
I Origins and Directions of Human Cytogenetics 1
Origins: Cytology, Genetics, and DNA Chemistry 2
The Midwives of Human Cytogenetics 3
The Birth of Clinical Cytogenetics 4
The Lyon Hypothesis 6
Adolescence: The Chromosome Banding Era 6
Somatic Cell Genetics and Chromosome Mapping 7
Maturity: The Molecular Era 8
References 10
Z The Mitotic Cell Cycle 1 3
The Cell Cycle: Interphase, Mitosis, and Cytokinesis 14
Cell Cycle Progression: Cyclins and Cyclin Dependent Kinases 16
vii
Cell Cycle Checkpoints 19
Prophase 20
Prometaphase, Centrosomes, and the Mitotic Spindle 22
Metaphase, Anaphase, and Telophase 22
Nondisjunction, Loss of Chromosomes, and Mosaicism 24
References 25
O DNA Replication and Chromosome Reproduction 29
Replication Is Semiconservative 29
The Chemistry of Replication 31
Initiation at Many Sites: Origins of Replication 33
Replication Is Precisely Ordered: Replication Banding 35
The Control of DNA Replication 38
Replication of Chromosome Ends: Telomerase and Cell Aging 40
Postreplication Steps: DNA Methylation and Chromatin Assembly 41
References 42
M General Features of Mitotic Chromosomes 45
Metaphase Chromosomes 45
The Chromosome Complement and Karyotype 47
DNA Content and DNA Based Flow Cytometric Karyotypes 48
Centromeres and Kinetochores 49
Telomeres 54
Nucleolus Organizers and Ribosomal RNA Genes 55
Constitutive and Facultative Heterochromatin 56
References 56
O The Chemistry and Packaging of Chromosomes 61
DNA Content and the Estimated Number of Base Pairs
in the Genome 62
Histone Proteins and the Nucleosome 62
The Chromosome Scaffold and Chromatin Loops 63
Chromosome Domains in the Interphase Nucleus 67
The Nuclear Matrix: Replication and Transcription Complexes 68
Locus Control Regions and Functional Domains 70
Euchromatin and Heterochromatin: Regulation of Gene Function 71
Histone Modifications, DNA Methylation, and
Chromosome Condensation 72
References 74
Contents
O Chromosome Bands 79
Q banding 80
C banding 81
G banding, R banding, and T banding 83
High Resolution and Replication Banding 84
Banding with Other Fluorochromes and Nonfluorochromes 85
Antibody Banding 87
Nuclease Banding 88
In Situ Hybridization Banding 89
Nomenclature of Banded Chromosomes and Abnormal Karyotypes 89
References 92
/ Molecular Correlates of Chromosome Bands 95
CC and AT Rich Isochores 95
Unmethylated CpG Clusters and Housekeeping and
Tissue Specific Genes 98
Interspersed Repetitive DNA Sequences and Transposable Elements 99
Tandemly Repetitive Elements: Telomeres, Centromeres, and
Satellite DNAs 100
Chromosomal Proteins and Chromatin Conformation 101
Functional Significance of Chromosome Bands 103
References 103
O In Situ Hybridization 107
In Situ Hybridization of Repetitive and Unique DNA Sequences 108
Fluorescence In Situ Hybridization 109
Replication Timing by FISH 114
Cloned, PCR Generated, and In Situ Generated Probes 114
Chromosome , Region , and Band Specific Painting Probes 116
Multicolor FISH, Spectral Karyotyping, and Bar Codes 117
High Resolution (Interphase and Fiber) FISH 118
Comparative Genomic Hybridization 121
References 121
/ Main Features of Meiosis 125
Prophase I: Leptotene, Zygotene, Pachytene, Diplotene,
and Diakinesis 127
ix
Chiasmata and Genetic Recombination 132
Metaphase I, Anaphase I, Telophase I, Interkinesis, and Meiosis II 133
Female Meiosis: Dictyotene Arrest, Metaphase II Arrest,
and Apoptosis 134
Male Meiosis 135
Segregation Distortion and Meiotic Drive 136
Meiotic Behavior of Three Homologous Chromosomes 137
References 138
I U Details of Meiosis 141
The Switch from Mitosis to Meiosis 141
Pairing of Homologous Chromosomes 142
The Synaptonemal Complex and Recombination Nodules 142
Nonrandom Distribution of Meiotic Recombination Sites 145
Molecular Mechanisms of Meiotic Recombination 146
Meiotic DNA Damage Checkpoint 149
Absence of a Spindle Assembly Checkpoint in Female Meiosis:
Role in Nondisjunction? 151
References 151
I I Meiotic Abnormalities: Abnormal Numbers
of Chromosomes 157
Incidence of Nondisjunction in Meiosis and Gametes 159
Incidence of Nondisjunction in Spontaneous Abortions, Stillborns,
and Liveborns 161
Causes of Meiotic Nondisjunction 164
Maternal Age, Recombination, and Mechanisms
of Nondisjunction 164
Parental Origin of Aneuploid Gametes 168
The Origin of Diploid Gametes and Polyploidy 169
Aneuploidy of Somatic (Mitotic) Origin: Mosaicism 170
References 171
I Z_ Abnormal Phenotypes Due to Autosomal Aneuploidy
or Polyploidy 1 75
Trisomy 21 and Down Syndrome 176
Trisomy 18 and Edwards Syndrome 178
Trisomy 13 and Patau Syndrome 178
Contents
Other Autosomal Aneuploidy Syndromes 180
Trisomy/Disomy Mosaicism 180
Triploidy and Tetraploidy 181
Spontaneous Abortions, Fetal Deaths, and Stillbirths 182
References 183
I O Chromosome Structural Aberrations 187
Chromosome and Chromatid Breaks and Rearrangements 189
Deletions (Partial Monosomies), Including Ring Chromosomes 191
Duplications (Partial Trisomies) 193
Misdivision of the Centromere: Centric Fusion and Centric Fission 195
Pericentric and Paracentric Inversions 196
Reciprocal Translocations 197
Robertsonian Translocations (RTs) 199
Intrachromosomal and Interchromosomal Insertions 200
Complex and Multiple Rearrangements 201
References 202
I ^4 The Causes of Structural Aberrations 207
Exogenous Causes of Structural Aberrations 210
Endogenous Causes of Structural Aberrations 212
Transposable Elements and Other Interspersed Repeats 213
Interspersed Repeats as Hotspots for Double Strand Breaks
and Rearrangements 215
References 217
I O Syndromes Due to Autosomal Deletions and Duplications 223
Cri du Chat (Cat Cry) and Wolf—Hirschhorn Syndromes 224
Ring Chromosome Phenotypes 227
The Critical Regions for Deletion (Segmental Aneusomy)
Syndromes 228
Miller Dieker Syndrome 231
Di George/Velocardiofacial/CATCH22 Syndromes 231
Critical Region for the Charcot Marie Tooth Type lA
Duplication Syndrome 232
Critical Region for Down Syndrome 232
References 234
xi
I C_) Clinical Importance of Translocations, Inversions,
and Insertions 239
Phenotypes of Balanced Translocation Heterozygotes (Carriers) 239
Aberrant Meiotic Segregation in Reciprocal Translocation Carriers 240
Aberrant Meiotic Segregation in Robertsonian Translocation
Carriers 243
Phenotypes Associated with Unbalanced Duplication/Deficiency
Karyotypes 245
Phenotypes of Inversion Heterozygotes (Carriers) 247
Aberrant Meiotic Segregation in Inversion and Insertion Carriers 247
Sperm Chromosomes in Meiotic Segregation Analysis 249
References 251
I / Sex Determination and the Y Chromosome 255
The Y Chromosome and Y Heterochromatin: The Y Body 255
The Two Pseudoautosomal Regions 257
Sex Determination: Rearrangements Localize the Male Determining
Gene to Yp 259
SRY, the Only Male Determining Gene on the Y Chromosome 260
Autosomal Genes Involved in Male Sex Determination
or Differentiation 261
Other Genes on the Y Chromosome 262
References 263
I O The X Chromosome, Dosage Compensation,
and X Inactivation 267
The Single Active X (Lyon) Hypothesis 269
Skewed X Inactivation 271
The Critical Region for X Inactivation: X Inactivation Center
and the XIST Gene 272
Reactivation of the X Chromosome 274
Regions That Escape X Inactivation: Functional Map of the
X Chromosome 274
X;Autosome Translocations and Spreading of Inactivation
(Position Effect) 276
References 278
I
I
Contents
I / Phenotypic Effects of Sex Chromosome Imbalance 283
Turner Syndrome 284
Is There a Critical Region for Turner Syndrome? 285
Polysomy X 287
Klinefelter Syndrome 288
Phenotypes Associated with Multiple Y Karyotypes 288
Deletions and Duplications of the X Chromosome: Risks Associated
with Hemizygosity 289
X,Autosome and Y,Autosome Translocations 291
References 291
ZXJ Fragile Sites, Trinucleotide Repeat Expansion, and the
Fragile X Syndrome 295
Common Fragile Sites: Methods of Induction 296
Heritable (Rare) Fragile Sites 299
FRAXA, the Fragile X Syndrome, and the FMR{ Gene 300
The Fragile X Phenotype Reflects the Number of CCG Repeats 301
Mechanism of Expansion of Trinucleotide and Other Repeats 301
Expansion of CCC Premutation Only in Maternal Meiosis 302
Mechanism of Inactivation of the FMRt Gene 303
Other Trinucleotide Expansion Disorders 303
References 305
/ I Euploid Chromosome Aberrations, Uniparental Disomy, and
Genomic Imprinting 309
Uniparental Disomy 309
Confined Placental Mosaicism and the Origin of UPD 310
UPD Can Lead to Homozygosity of a Recessive Disease Gene 311
UPD Can Lead to Disease Due to a Novel Mechanism:
Genomic Imprinting 311
Three Imprinting Disorders: Beckwith Wiedemann, Prader Willi, and
Angelman Syndromes 313
Chimeras, Triploidy, and Tetraploidy 315
Ovarian Teratomas: Both Genomes Maternal in Origin 317
Hydatidiform Moles: Both Genomes Usually Paternal in Origin 318
References 319
xiii
Z /L. Chromosome Changes in Cell Differentiation 323
Programmed DNA Loss 324
Facultative Heterochromatin: Chromatin Structure and
Gene Expression 324
Nature and Mechanism of Genomic Imprinting 325
Tissue Specific Differences in X Inactivation 327
Germline Specific Gene Expression and Sex Specific Imprinting 328
Embryonic Inactivation of All but One Centromere
per Chromosome 329
Endoreduplication, Polyploidy, and Polyteny 331
Triradials, Multiradials, and ICF Syndrome,
a Hypomethylation Disorder 333
References 335
Z.O Somatic Cell Hybridization in Cytogenetic Analysis 339
Cell Fusion 340
Complementation Analysis in Heterokaryons 340
Premature Chromosome Condensation and Allocycly 341
Somatic Cell Hybrids 343
Preferential Human Chromosome Loss from
Rodent Human Hybrids 345
Induced Chromosome Breakage: Radiation Hybrids 347
Microcell Hybrids 347
Chromosome and Gene Transfer: Transgenomes and Transgenes 348
References 349
Z_^ 4 Chromosome Instability Syndromes 353
Bloom Syndrome 354
Mitotic Recombination or Crossing Over 356
Fanconi Anemia 357
Ataxia Telangiectasia: A Cell Cycle Checkpoint Disorder 359
Related Disorders with Chromosome Instability 360
References 363
Z.O DNA and Gene Amplification 369
Double Minutes and Homogeneously Stained Regions 370
DMs and HSRs Are Expressions of Gene Amplification 370
Contents
Mechanisms of Cene Amplification 374
How Does Cene Amplification Lead to Cancer? 379
References 379
Z.O Genome Destabilization and Multistep Progression
to Cancer 385
Immortality of Transformed and Malignant Cells 386
Genetic Basis of Cancer: Sequential Chromosome or
Gene Mutations 387
Clonal Origin, Selection, and Multistep Tumor Progression 389
Spindle Aberrations and Instability of Chromosome Number 391
The Major Mechanism of Spindle Aberrations and Heteroploidy 394
Structural Chromosome Changes 394
DNA Damage Checkpoint and Structural Instability
of Chromosomes 395
Other Causes of Structural Instability of Chromosomes 397
Environmental Causes of Cancer 398
References 399
/ I Chromosomes and Cancer: Activation of Oncogenes 405
Mechanisms of Oncogene Action 406
Reciprocal Translocations and Oncogene Activation 407
How Do Translocations Activate Cellular Oncogenes? 409
Amplification and Oncogene Activation 411
Relaxation of Imprinting and Oncogene Activation 41 3
References 41 3
Z_O Chromosomes and Cancer: Inactivation of
Tumor Suppressor Genes 415
Tumor/Nontumor Cell Hybrids: First Evidence for
Tumor Suppressor Genes 415
Allele Loss and Loss of Heterozygosity 417
Retinoblastoma and the Two Hit Model of Carcinogenesis 417
Mechanism of Tumor Suppression by a Functional RBi Gene 418
The p53 Tumor Suppressor Gene, TP53 419
Other Genes That Affect the Cell Cycle 420
Imprinted Tumor Suppressor Genes 421
Genes That Suppress Oncogenes or Influence Transcription 423
Genes That Affect Cell Adhesion 425
xv
Metastasis Suppressor Genes 426
References 426
/—/ Mapping Human Chromosomes 431
Genetic Linkage Maps 432
Mapping Disease Genes: Family Studies with Genetic Markers 435
Assignment of Genes to Chromosomes: Synteny Groups 435
Physical Maps 437
The Human Genome Project 440
References 443
OLJ Genome Plasticity and Chromosome Evolution 447
Genome Plasticity 448
Evolution of the Autosomes 451
Evolution of the X and Y Chromosomes: Dosage Compensation 452
Evolution of Telomeric and Centromeric Regions 456
References 457
O I The Future of Human Cytogenetics 463
Unsolved Problems 464
Genome Organization 465
Directions 469
New Technology 470
References 472
Index 475
|
| any_adam_object | 1 |
| author | Miller, Orlando J. Therman, Eeva |
| author_facet | Miller, Orlando J. Therman, Eeva |
| author_role | aut aut |
| author_sort | Miller, Orlando J. |
| author_variant | o j m oj ojm e t et |
| building | Verbundindex |
| bvnumber | BV013500637 |
| callnumber-first | Q - Science |
| callnumber-label | QH431 |
| callnumber-raw | QH431 |
| callnumber-search | QH431 |
| callnumber-sort | QH 3431 |
| callnumber-subject | QH - Natural History and Biology |
| classification_rvk | WG 6908 WG 7000 WG 7200 |
| ctrlnum | (OCoLC)44405543 (DE-599)BVBBV013500637 |
| dewey-full | 611/.01816 |
| dewey-hundreds | 600 - Technology (Applied sciences) |
| dewey-ones | 611 - Human anatomy, cytology, histology |
| dewey-raw | 611/.01816 |
| dewey-search | 611/.01816 |
| dewey-sort | 3611 41816 |
| dewey-tens | 610 - Medicine and health |
| discipline | Biologie Medizin |
| edition | 4. ed. |
| format | Book |
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| id | DE-604.BV013500637 |
| illustrated | Illustrated |
| indexdate | 2024-07-09T18:46:55Z |
| institution | BVB |
| isbn | 038795046X 0387950311 |
| language | German |
| oai_aleph_id | oai:aleph.bib-bvb.de:BVB01-009215361 |
| oclc_num | 44405543 |
| open_access_boolean | |
| owner | DE-355 DE-BY-UBR DE-20 DE-29 DE-11 DE-578 |
| owner_facet | DE-355 DE-BY-UBR DE-20 DE-29 DE-11 DE-578 |
| physical | XVI, 501 S. Ill., graph. Darst. |
| publishDate | 2001 |
| publishDateSearch | 2001 |
| publishDateSort | 2001 |
| publisher | Springer |
| record_format | marc |
| spelling | Miller, Orlando J. Verfasser aut Human chromosomes Orlando J. Miller ; Eeva Therman 4. ed. New York [u.a.] Springer 2001 XVI, 501 S. Ill., graph. Darst. txt rdacontent n rdamedia nc rdacarrier Literaturangaben. - 3. Aufl. u.d.T.: Therman, Eeva: Human chromosomes This is the fourth edition of an acclaimed introductory textbook on the structure and function of human chromosomes. The book is strengthened by the complete revision of material on the molecular genetics of chromosomes and chromosomal defects. Chromosomen gtt Citogenética larpcal Cromossomos humanos larpcal Medische genetica gtt Mensen gtt Chromosome Aberrations Chromosomes, Human Cytogenetics Human chromosome abnormalities Human chromosomes Human cytogenetics Humangenetik (DE-588)4072653-8 gnd rswk-swf Chromosom (DE-588)4010162-9 gnd rswk-swf Mensch (DE-588)4038639-9 gnd rswk-swf Chromosom (DE-588)4010162-9 s Humangenetik (DE-588)4072653-8 s DE-604 Mensch (DE-588)4038639-9 s Therman, Eeva Verfasser aut HBZ Datenaustausch application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=009215361&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis |
| spellingShingle | Miller, Orlando J. Therman, Eeva Human chromosomes Chromosomen gtt Citogenética larpcal Cromossomos humanos larpcal Medische genetica gtt Mensen gtt Chromosome Aberrations Chromosomes, Human Cytogenetics Human chromosome abnormalities Human chromosomes Human cytogenetics Humangenetik (DE-588)4072653-8 gnd Chromosom (DE-588)4010162-9 gnd Mensch (DE-588)4038639-9 gnd |
| subject_GND | (DE-588)4072653-8 (DE-588)4010162-9 (DE-588)4038639-9 |
| title | Human chromosomes |
| title_auth | Human chromosomes |
| title_exact_search | Human chromosomes |
| title_full | Human chromosomes Orlando J. Miller ; Eeva Therman |
| title_fullStr | Human chromosomes Orlando J. Miller ; Eeva Therman |
| title_full_unstemmed | Human chromosomes Orlando J. Miller ; Eeva Therman |
| title_short | Human chromosomes |
| title_sort | human chromosomes |
| topic | Chromosomen gtt Citogenética larpcal Cromossomos humanos larpcal Medische genetica gtt Mensen gtt Chromosome Aberrations Chromosomes, Human Cytogenetics Human chromosome abnormalities Human chromosomes Human cytogenetics Humangenetik (DE-588)4072653-8 gnd Chromosom (DE-588)4010162-9 gnd Mensch (DE-588)4038639-9 gnd |
| topic_facet | Chromosomen Citogenética Cromossomos humanos Medische genetica Mensen Chromosome Aberrations Chromosomes, Human Cytogenetics Human chromosome abnormalities Human chromosomes Human cytogenetics Humangenetik Chromosom Mensch |
| url | http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=009215361&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA |
| work_keys_str_mv | AT millerorlandoj humanchromosomes AT thermaneeva humanchromosomes |