The genetics of the skeleton: animal models of skeletal development
Gespeichert in:
| 1. Verfasser: | |
|---|---|
| Format: | Buch |
| Sprache: | English |
| Veröffentlicht: |
Oxford
Clarendon Pr.
1986
|
| Schlagworte: | |
| Online-Zugang: | Inhaltsverzeichnis |
| Beschreibung: | XVI, 407 S. Ill. |
| ISBN: | 0198541635 |
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| 245 | 1 | 0 | |a The genetics of the skeleton |b animal models of skeletal development |c D. R. Johnson |
| 264 | 1 | |a Oxford |b Clarendon Pr. |c 1986 | |
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Datensatz im Suchindex
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| adam_text | The Genetics of the Skeleton
Animal Models of Skeletal Development
D R _JOHNSON
Senior Lecturer in Anatomy,
Department of Anatomy,
University of Leeds
CLARENDON PRESS • OXFORD
Contents
1 Models of disease processes 1
Genetics and skeletal abnormality 3
The major skeletal gene 3
Modifier genes 4
Genetic background • • 4
Inbred strains 4
Pleiotropism 5
2 The membranous skeleton 8
Mesodermal condensations 8
Initiation of skeletogenesis 9
The stimulus 9
The mechanism - 12
The mutants 13
The talpid (ta) chick 13
Brachypodism (bp, Chr 2) 20
Amputated (am, Chr 8) 25
Congenital hydrocephalus (ch, Chr 13) 26
Short ear (se, Chr 9) 27
Droopy ear (de, Chr 3) 28
Phocomelia (pc, Chr ?) 29
Shorthead (sho, Chr ?) 29
Shaker with syndactylism (sy, Chr 18) 29
Blastemata: an overview 30
3 The cartilaginous skeleton 40
Cartilage 40
Matrix 40
Collagen 40
Proteoglycans 41
Link protein 43
Chondronectin 43
Maturation of the matrix 43
Cell-cell interaction 45
Morphogenesis of cartilage 46
The long-bone model 49
The primary centre of ossification 49
Secondary centres of ossification SO
The growth plate 50
Inert zone SO
Zone of reserve cells 50
Zone of proliferation 51
x Contents
Zone of maturation
Zone of hypertrophy
Calcification
Zone of vascular invasion
Closure of the epiphysis
Cartilage growth and bone growth
Elongation of the diaphysis
Increase in width of the growth plate
Articular surfaces
Synchondroses and secondary cartilage
The mutants
Mov 13 (Chr ?)
Brachypodism (bp, bpH , Chr 2)
The talpid (ta) chick
Congenital hydrocephalus (ch, Chr 13)
Chondrodystrophies
The nanomelic (nm) chick
Cartilage matrix deficiency (cmd, Chr?)
Spondylo-metaphysial chondrodysplasia (smc, Chr ?)
The cartilage anomaly rat
Brachymorphic (bm, Chr 19)
The achondroplastic (ac) rabbit
Cartilage anomaly (can, Chr ?)
Achondroplasia (en, Chr 4)
Chondrodystrophy (cho, Chr ?)
Stumpy (stm, Chr?)
Disproportionate micromelia (Dmm, Chr ?)
Lethal chondrodystrophy (ch) in the turkey
Stubby (stb, Chr 2)
Bare patches (Bpa, Chr X)
Paddle (Pad, Chr ?)
Other conditions
The defects seen in animal models: an overview
Human chondrodystrophies and the animal models
4 The bony skeleton 118
Bone 118
Cells of bone 118
Origin of bone cells 118
Origin of osteoblasts and osteocytes 118
Morphology 119
Osteoblasts 119
Osteocytes 120
Osteoclasts 120
Function of osteoclasts—modelling and remodelling of bone 121
The ruffled border 121
The clear zone 122
Vacuoles and other organdies 122
Contents xi
Separation of cell types 123
Bone matrix 123
Collagen synthesis 123
Breakdown of collagen 124
Non-collagen bone protein 124
Bone mineral 124
Mineralization 125
Inhibitors 126
Control of bone matrix composition 126
Calcium and phosphorus balance 126
Vitamin D 127
Parathyroid hormone (parathormone, PTH) 127
Calcitonin (CT) 128
Other hormonal effects 129
Local factors 129
Prostaglandins 129
Osteoclast activating factor (OAF) 130
Epidermal growth factor 131
The mutants 131
The talpid3 chick 131
Shaker with syndactylism (sy, Chr 18) 132
Tiptoe-walking Yoshimura (twy, Chr ?) 133
Gyro (Gy, Chr X) 133
Hypophosphataemia (Hyp, Chr X) 136
Fragilitas ossium (fro, Chr ?) 139
Tight skin (Tsk, Chr 2) 139
Hairloss(hl,Chrl5) 140
Progressive ankylosis (ank, Chr ?) 140
Microphthalmia (mi, Chr 6) 140
The osteopetroses 142
Grey lethal (gl, Chr 10) 143
Microphthalmia (mi, Chr 6) 148
Osteosclerosis (oc, Chr 19) 153
Osteopetrosis (op, Chr 12) 153
The incisors-absent (ia) rat 156
The toothless (tl) rat 160
The osteopetrotic (op) rat 160
The osteopetrotic (os) rabbit 162
Osteopetroses in rat and mouse—an overview 162
Stem cell hydpothesis 162
Involvement of thyrocalcitonin 162
Hyperparathyroid hypothesis 163
Osteoclast deficiences 164
Human osteopetroses 166
Malignant type 166
Benign type 167
S The axial skeleton 179
The primitive streak and the notochord 179
xii Contents
Mutants affecting the primitive streak and the notochord 179
Danforth s short tail (Sd, Chr 2) 179
Pintail (Pt, Chr 4) 181
Truncate (tc, Chr 6) 183
Vestigial tail (vt, Chr 11) 183
Bent-tail (Bt, Chr X) 184
Porcine tail (pr, Chr ?) 185
Brachyury and the T locus (Chr 17) 186
Brachyury (T) 186
Curtailed (T0) 188
Harwell T(TH) 189
Hairpin-tail (THP) 189
T-Oak Ridge (T°r) 191
T-Orleans (T°rl) 191
T alleles and chromosome rearrangement 191
The t alleles 191
Tail short (Ts, Chr 11) 194
Crinkly tail (cy, Chr 4) 196
Loop tail (Lp, Chr 1) 196
Urinogenital (ur, Chr ?) 198
Pathology of the notochord 198
The unsegmented paraxial mesoderm 199
Disorders of segmentation and sclerotome differentiation 199
Origin of the sclerotome 199
Amputated (am, Chr 8) 200
The talpid3 chick 203
Rib fusions (Rf, Chr ?) 203
Pudgy (pu, Chr 7) 205
Malformed vertebrae (Mv, Chr ?) 206
Crooked tail (Cd, Chr 6) 206
Rachiterata (rh, Chr 2) 207
Mutations involving the neural tube 208
Curly tail (ct, Chr?) 208
Shaker short tail (sst, Chr ?) and shaker short (st, Chr ?) 210
Splotch (Sp, Chr 1) 211
Fused, kinky, and knobbly (Fu, Fukl, Fukb) 213
Duplicatus posterior 214
Screwtail (sc, Chr ?) 215
Further differentiation of the sclerotome 215
The amputated (am) mouse and sclerotome differentiation 218
Tail-kinks (tk, Chr 9) 219
Undulated (un, Chr 2) 219
Flexed tail (f, Chr 13) 220
Diminutive (dm, Chr 2) 220
Other conditions 220
Axial abnormalities—an overview 221
The situation in man 223
Contents xiii
The skull, face, and palate 232
Development of the head region 232
Face, palate, and nose 232
The face 232
Primary palate 232
Secondary palate 233
The skull 235
The mutants 235
Major abnormalities of the facial processes 235
Extra-toes (Xt, Chr 13) 235
Patch (Ph, Chr 5) 237
Tail short (Ts, Chr 11) 238
Skull proportions and interfrontal bones 240
First arch malformation (far, Chr ?) 242
Amputated (am, Chr 8) 245
Phocomelia (pc, Chr ?) 246
Shorthead (sho, Chr ?) 247
The talpid (ta) chick 248
Visceral arch abnormalities and head defects 248
Cleft lip and cleft palate 249
Dancer (Do, Chr 19) 249
Twirler (Tw, Chr 18) 249
Cleft lip and palate in inbred strains 250
Outcrossing the A-like strains 250
Maternal factors 251
Facial proportions and cleft lip 251
Spontaneous cleft palate without cleft lip 255
Major genes 256
Chondrodysplasia (cho, Chr ?) 256
Cartilage matrix deficiency (cmd, Chr ?) 256
Paddle (pad, Chr ?) 256
Urinogenital (ur, Chr ?) 257
Brain hernia (bh, probably Chr 7) 258
Hypophosphataemia (hyp, Chr X) 258
Sirenomelia (srn, Chr ?) 259
Brachymorphic (bm, Chr 19), stubby (stb, Chr 2) 259
Palatal slit 259
Muscular dysgenesis (mdg, Chr ?) 260
Achondroplasia (en, Chr 4) 260
Congenital hydrocephalus (ch, Chr 13) 261
Palatal clefting in inbred strains 261
7 The teeth 271
Development of teeth 271
Minor variations of molar pattern—the inbred strains 275
Tooth size and tooth regression 276
xiv Contents
The mutants—major genes affecting the teeth 278
The Tabby (Ta, Chr X) - crinkled (cr, Chr 13) - downless
(dl, Chr, 10) - sleek (Dlsllt, Chr 10) Syndrome 278
Fused and supernumerary incisors in the rice rat (Oryzomys plaustris) 282
Crooked-tail (Cd, Chr 6) 283
Hairless (hr, Chr 14) 285
Screwtail (sc, Chr ?) 286
Pituitary dwarfing (dw, Chr 16) 286
Achondroplasia (en, Chr 4) and stubby (stb, Chr 2) 287
Phocomelia (pc, Chr ?) 287
Hypophosphataemia (Hyp, Chr X) 287
Extra incisors in the mouse 287
Tooth size and its heritability 288
The osteopetroses 288
Tooth eruption 288
Grey lethal (gl, Chr 10) 289
Microphthalmia (mi, Chr 6) 291
The incisors-absent (ia) rat 295
Negative evidence from other genes 293
Summary 293
8 The limbs 298
The limb bud 298
Mapping skeletal areas 300
Proximo-distal and antero-posterior regulation 300
The ZPA and antero-posterior differentation of the limb 302
The ZPA in normal development 304
Polar coordinate model 305
Somites and limb buds in development 307
Innervation 308
Cell death 308
The mutants 309
Reduction of the limb bud 309
Winglessness in the chick (wg, American wingless, ws) 309
Ametapodia (Mp) in the chick 314
Ectrodactyly (ec) in the chick 314
Disorganization (Ds, Chr 14) 315
Pupoid fetus (pf, Chr 4) 316
The preaxial hemimelia-luxate group 316
Dominant hemimelia (Dh, Chr 1) 317
Luxate (lx, Chr 5) 319
Green s luxoid (lu, Chr 9) 321
Kobozieff s luxoid (Chr ?) 322
Strong s luxoid (1st, Chr 2) 322
Interactions between mouse luxates 325
Polydactyly Nagoya (Pdn, Chr ?) 325
Scott s polydactylous guinea pig (px) and the extra-toes
(Xt, Chr 13) mouse 326
Polydactyly (Po) and duplicate (Pod) in the chick 328
Contents xv
Pelvic level and the luxates 330
Diplopodia (dp) in the chick 330
The talpid series (ta) in the chick 333
Polysyndactyly (Ps, Chr 4) 338
Splitfoot in the chick 340
Preaxial polydactyly as part of a wider syndrome 341
Fidgit(fi,Chr2) 341
Hop-sterile (hop, Chr ?) 341
Hydrocephalic polydactyl (hpy, Chr 6) 342
Myelencephalic blebs (my, Chr 3) 342
Fetal haematoma (fh, Chr ?) 344
Brachydactyly (br) in the rabbit 344
Tail-short (Ts, Chr 11) 345
Simple preaxial polydactyly as a single entity 345
Holt s polydactyly (py, Chr 1) 345
Beck s polydactyly 345
Roberts s polydactyly 345
X-linked polydactyly (Xpl, Chr X) 346
Preaxial abnormalities—an overview 346
Non-mirror-image polydactyly 349
Limb deficiencies and duplication in man 349
Absence of the distal part of the footplate 350
Reduction of the distal limb 350
Dachyplasia (Dae, Chr ?) 350
Split hand (Sh) in the cat 350
Hypodactyly (Hd, Chr 6) 352
Hypodactyly (hd) in the rat 352
Postaxial polydactyly 353
Postaxial polydactyly (toe-ulnar tu, Chr ?) 353
Postaxial polydactyly (Po, Chr ?) 353
Postaxial hemimelia 353
Oligodactylism (ol, Chr 7) 354
Postaxial hemimelia (px, Chr 6) 354
Eudiplopodia (eu) in the chick 356
Syndactyly 358
Oligosyndactylism (Os, Chr 8) 358
Shaker with syndactylism (sy, Chr 18) 359
Syndactylism (sm, Chr ?) 361
Syndactylism (jt, Chr ?) 361
Bovine syndactylism (sy) 362
Syndactylism—an overview 363
Brachypodism (bp, Chr 2) 363
9 Genes and teratogens 378
Axial skeleton 380
Extra-toes (Xt, Chr 13) and trypan blue 380
Curly-tail (ct, Chr ?), vitamin A, and cytotoxics 381
Crooked tail (Cd, Chr 6), rib fusions (rf, Chr ?), and insulin 382
xvi Contents
The T-locus, cyclohexamide, trypan blue, and actinomycin D 382
Splotch (Sp, Chr 1) and retinoic acid 382
Cleft palate 383
Inbred strains, H-2, and cortisone 383
H-2 and phenytoin 383
Significance of H-2 involvement 384
Hypervitaminosis A and the teeth 385
Limbs 386
Polydactyly (py, Chr 1), TEM, and cyclophosphamide 386
Polydactyly Nagoya (Pdn, Chr ?), 5FU, and Ara-C 386
Luxoid (lu), luxate (lx), Strong s luxoid (1st), and 5FU 389
Brachydactyly (br) in the rabbit, hypoxia, phenylhydrazine,
and folic acid 390
10 Conclusion: the validity of animal models 394
Appendix 1 Stockholders of genetic material 397
Appendix 2 Comparative times of development for mouse, rat,
and chick 398
Index 401
|
| any_adam_object | 1 |
| author | Johnson, David R. |
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| dewey-full | 591.1/852 616.7/1042 |
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| dewey-tens | 590 - Animals 610 - Medicine and health |
| discipline | Biologie Medizin |
| format | Book |
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| id | DE-604.BV000566791 |
| illustrated | Illustrated |
| indexdate | 2024-07-09T15:15:47Z |
| institution | BVB |
| isbn | 0198541635 |
| language | English |
| oai_aleph_id | oai:aleph.bib-bvb.de:BVB01-000349337 |
| oclc_num | 13062862 |
| open_access_boolean | |
| owner | DE-12 DE-355 DE-BY-UBR DE-188 |
| owner_facet | DE-12 DE-355 DE-BY-UBR DE-188 |
| physical | XVI, 407 S. Ill. |
| publishDate | 1986 |
| publishDateSearch | 1986 |
| publishDateSort | 1986 |
| publisher | Clarendon Pr. |
| record_format | marc |
| spelling | Johnson, David R. Verfasser aut The genetics of the skeleton animal models of skeletal development D. R. Johnson Oxford Clarendon Pr. 1986 XVI, 407 S. Ill. txt rdacontent n rdamedia nc rdacarrier bones cabt skeleton cabt skeletal development cabt genetics cabt animal models cabt Os - Croissance - Modèles animaux Os - Maladies - Aspect génétique - Modèles animaux Os - Malformations - Aspect génétique - Modèles animaux Bone Diseases genetics Bones Abnormalities Animal models Bones Abnormalities Genetic aspects Bones Diseases Animal models Bones Diseases Genetic aspects Bones Growth Animal models Cartilage Diseases genetics Disease Models, Animal Skelett (DE-588)4133111-4 gnd rswk-swf Skeletogenese (DE-588)4660582-4 gnd rswk-swf Genetik (DE-588)4071711-2 gnd rswk-swf Tiermodell (DE-588)4140660-6 gnd rswk-swf Skelett (DE-588)4133111-4 s Genetik (DE-588)4071711-2 s DE-604 Skeletogenese (DE-588)4660582-4 s Tiermodell (DE-588)4140660-6 s HEBIS Datenaustausch application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=000349337&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis |
| spellingShingle | Johnson, David R. The genetics of the skeleton animal models of skeletal development bones cabt skeleton cabt skeletal development cabt genetics cabt animal models cabt Os - Croissance - Modèles animaux Os - Maladies - Aspect génétique - Modèles animaux Os - Malformations - Aspect génétique - Modèles animaux Bone Diseases genetics Bones Abnormalities Animal models Bones Abnormalities Genetic aspects Bones Diseases Animal models Bones Diseases Genetic aspects Bones Growth Animal models Cartilage Diseases genetics Disease Models, Animal Skelett (DE-588)4133111-4 gnd Skeletogenese (DE-588)4660582-4 gnd Genetik (DE-588)4071711-2 gnd Tiermodell (DE-588)4140660-6 gnd |
| subject_GND | (DE-588)4133111-4 (DE-588)4660582-4 (DE-588)4071711-2 (DE-588)4140660-6 |
| title | The genetics of the skeleton animal models of skeletal development |
| title_auth | The genetics of the skeleton animal models of skeletal development |
| title_exact_search | The genetics of the skeleton animal models of skeletal development |
| title_full | The genetics of the skeleton animal models of skeletal development D. R. Johnson |
| title_fullStr | The genetics of the skeleton animal models of skeletal development D. R. Johnson |
| title_full_unstemmed | The genetics of the skeleton animal models of skeletal development D. R. Johnson |
| title_short | The genetics of the skeleton |
| title_sort | the genetics of the skeleton animal models of skeletal development |
| title_sub | animal models of skeletal development |
| topic | bones cabt skeleton cabt skeletal development cabt genetics cabt animal models cabt Os - Croissance - Modèles animaux Os - Maladies - Aspect génétique - Modèles animaux Os - Malformations - Aspect génétique - Modèles animaux Bone Diseases genetics Bones Abnormalities Animal models Bones Abnormalities Genetic aspects Bones Diseases Animal models Bones Diseases Genetic aspects Bones Growth Animal models Cartilage Diseases genetics Disease Models, Animal Skelett (DE-588)4133111-4 gnd Skeletogenese (DE-588)4660582-4 gnd Genetik (DE-588)4071711-2 gnd Tiermodell (DE-588)4140660-6 gnd |
| topic_facet | bones skeleton skeletal development genetics animal models Os - Croissance - Modèles animaux Os - Maladies - Aspect génétique - Modèles animaux Os - Malformations - Aspect génétique - Modèles animaux Bone Diseases genetics Bones Abnormalities Animal models Bones Abnormalities Genetic aspects Bones Diseases Animal models Bones Diseases Genetic aspects Bones Growth Animal models Cartilage Diseases genetics Disease Models, Animal Skelett Skeletogenese Genetik Tiermodell |
| url | http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=000349337&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA |
| work_keys_str_mv | AT johnsondavidr thegeneticsoftheskeletonanimalmodelsofskeletaldevelopment |