Human genetic diversity: functional consequences for health and disease
Gespeichert in:
| 1. Verfasser: | |
|---|---|
| Format: | Buch |
| Sprache: | English |
| Veröffentlicht: |
Oxford [u.a.]
Oxford Univ. Press
2009
|
| Ausgabe: | 1. publ. |
| Schlagworte: | |
| Online-Zugang: | Inhaltsverzeichnis |
| Beschreibung: | XIX, 480 S. Ill., graph. Darst., Kt. |
| ISBN: | 9780199227709 0199227705 9780199227693 0199227691 |
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| 100 | 1 | |a Knight, Julian C. |e Verfasser |4 aut | |
| 245 | 1 | 0 | |a Human genetic diversity |b functional consequences for health and disease |c Julian C. Knight |
| 250 | |a 1. publ. | ||
| 264 | 1 | |a Oxford [u.a.] |b Oxford Univ. Press |c 2009 | |
| 300 | |a XIX, 480 S. |b Ill., graph. Darst., Kt. | ||
| 336 | |b txt |2 rdacontent | ||
| 337 | |b n |2 rdamedia | ||
| 338 | |b nc |2 rdacarrier | ||
| 650 | 4 | |a Human genetics |x Variation | |
| 650 | 4 | |a Human molecular genetics | |
| 650 | 4 | |a Human evolution | |
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Datensatz im Suchindex
| _version_ | 1807322179547693056 |
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| adam_text |
Contents
Preface
xvii
Acknowledgements
xix
1
Lessons from haemoglobin
1
1.1
Introduction
1
Box
1.1
Haemoglobinopathies
1
1.2
Genetic variation and a molecular basis for disease
3
1.2.1
A difference at the protein level between haemoglobin molecules
3
Box
1.2
Sickle cell disease
3
Box
1.3
Genotype and phenotype
3
Box
1.4
Chromosomes
4
Box
1.5
Genes
5
Box
1.6
An
amino
acid difference responsible for Hb
S
6
1.2.2
Mendelian inheritance,
alíeles
and traits
6
Box
1.7
Phenotype of sickle cell disease
7
Box
1.8
Alíeles
8
1.2.3
Sequencing the HBB gene and defining the variant responsible for Hb
S
9
Box
1.9 DNA
structure
10
Box
1.10 DNA
sequencing
12
Box
1.11
Transcription
14
Box
1.12
Translation
14
Boxi.
13
Nomenclature to describe sequence variants
19
Box
1.14
Mutation and polymorphism
24
1.2.4
Methods of detecting the Hb
S
DNA
sequence variant
24
1.3
Genetic diversity involving the globin genes
27
1.3.1
Structural variants of haemoglobin and the thalassaemias
27
1.3.2
HBB sequence diversity and sickle cell disease
30
Box
1.15
Alpha thalassemia 3T
Box
1
Л
6
Beta thalassemia 3T
1.3.3
Transitions versus
transversions
32
Box
1.17
CpG dinucleotides and
С
to
Τ
transitions
32
v¡
CONTENTS
1.3.4
Synonymous versus nonsynonymous changes
33
Box
1.18
Codon position and degeneracy
33
1.3.5
Insertions or deletions may result in frameshift events
35
1.3.6
Deletions, duplications, and copy number variation
36
Box
1
Л
9
Copy number variation
37
1.3.7
Gene fusion
37
1.3.8
Sequence variation,
RNA
splicing, and
RNA
processing
38
Box
1.20
Splicing
38
1.3.9
Sequence diversity in noncoding
DNA
modulating gene expression
40
1.3.10
Tandem repeats
43
Box
1.21
Tandemly repeated
DNA 43
1.3.11
Mobile
DNA
elements and chromosomal rearrangements
43
1.3.12
Monosomy and trisomy of the terminal end of chromosome
1
6p
44
Box
1.22
Translocations
44
Box
1.23
Alpha thalassaemia and mental retardation
45
1.4
Diversity across the genome
46
1.4.1
Classifying genetic variation
46
1.4.2
Sequencing the human genome
48
1.4.3
Repetitive
DNA
sequences are common
50
1.4.4
Whose genome was sequenced?
50
1.4.5
Resequencing diploid human genomes
50
Box
1.24
Next generation sequencing
51
1.5
Summary
52
1.6
Reviews
52
2
Finding genes and specific genetic variants responsible for disease
53
2.1
Introduction
53
2.2
Linkage analysis
53
2.2.1
Defining linkage
53
Box
2.1
Meiosis
54
Box
2.2
Homologous recombination (crossing over)
54
2.2.2
Genetic markers
54
2.3
Application of linkage analysis and positional cloning to
mendelian diseases
56
Box
2.3
Recombination fraction and genetic distance
58
Box
2.4
Lod
score
58
Box
2.5
Positional cloning
58
2.3.1
Cystic fibrosis and the
delta-FöOS
mutation
59
Box
2.6
Cystic
f
ibrosis
59
2.3.2
Treacher Collins syndrome
60
Box
2.7
Treacher Collins-Franceschetti syndrome
60
2.3.3
Linkage disequilibrium mapping and mendelian disease
61
Box
2.8
Linkage disequilibrium and haplotypes
62
Box
2.9
Diastrophic dysplasia
64
2.3.4
Allelic and genetic heterogeneity in mendelian diseases
64
CONTENTS
vii
2.3.5
Linkage analysis and common disease
66
2.4
Genetic association studies and common disease
66
2.4.1
A small number of robustly demonstrated associations?
67
2.4.2
Study design and statistical power
67
2.4.3
Genetic admixture and association with disease
70
2.4.4
TN F
and candidate gene association studies
72
2.5
Alzheimer's disease
72
Box
2.10
Alzheimer's disease
73
2.5.1
Early onset familial Alzheimer's disease: rare variants
underlying a mendelian trait
74
2.5.2
ΑΡΟΕε4
and late onset Alzheimer's disease
77
2.6
Common and rare genetic variants associated with venous thrombosis
80
Box
2.11
Thrombophilia and venous thrombosis
80
2.6.1
Factor V Leiden
81
2.6.2
Genetic diversity and thrombophilia: insights and applications
82
2.7
Summary
83
2.8
Reviews
84
3
Cytogenetics and large scale structural genomic variation
85
3.1
Introduction
85
3.2
A historical perspective on cytogenetics
85
Box
3.1
Electronic resources and databases of human structural
genomic variation
86
3.3
Chromosomal diversity involving gain or loss of complete
chromosomes
89
3.3.1
Constitutional and somatic variation in chromosome number
89
Box
3.2
Aneuploidy and polyploidy
89
3.3.2
Chromosomal abnormalities and development
90
3.3.3
Polyploidy
90
3.3.4
Trisomy
91
3.3.5
Monosomy
91
Box
3.3
Down syndrome
92
Box
3.4
Klinefelter syndrome and sex chromosome aneuploidy
93
3.4
Translocations
93
3.4.1
Reciprocal
translocations
93
Box
3.5
Turner syndrome
94
3.4.2
Robertsonian
translocations
94
Box
3.6
Palindromic AT-rich repeats and recurrent reciprocal
translocation
97
Box
3.7
Duchenne muscular dystrophy
97
3.5
Chromosomal rearrangements
98
3.5.1
Large scale structural variation resulting from
intrachromosomal rearrangements
98
3.5.2
Genomic disorders
99
3.5.3
Marker chromosomes
99
viii
CONTENTS
3.5.4
Isochromosomes
99
3.6
Summary
Ю1
Box
3.8
Cat eye syndrome
Ю2
3.7
Reviews
103
4
Copy number variation in health and susceptibility to disease
105
4.1
Introduction 1°5
4.2
Surveys of copy number variation
105
Box
4.1
Copy number variation and polymorphism
105
Box
4.2
Using
DNA
microarrays to analyse copy number variation
106
4.2.1
Copy number variation is common within normal populations
106
4.2.2
Towards a global map of copy number variation
108
4.2.3
Finding deletions across the genome within normal
human populations
Π2
4.2.4
Integrating surveys of structural variation
Π
3
Box
4.3
Reference
DNA
and copy number variants
115
4.2.5
Extent of copy number variation
116
4.2.6
Segmental
duplications and identifying copy number variation
116
4.2.7
Structural versus nucleotide diversity
117
4.3
Copy number variation and gene expression
117
4.4
Copy number variation, diet, and drug metabolism
118
4.4.1
Duplication of the salivary
amylase gene
and high starch diet
118
4.4.2
Copy number variation and drug metabolism: role of O/P2D6
119
Box
4.4
CYP genes encode cytochrome P450 enzymes
119
Box
4.5
Consequences of Q4P2D6 duplication: a case report
120
4.4.3
Whole gene deletions of glutathione S-transferase enzymes,
catalytic activity, and cancer risk
121
4.5
Copy number variation and susceptibility to common
multifactorial disease
121
4.5.1
Psoriasis risk and
β
defensin gene copy number
121
Box
4.6
Psoriasis
121
4.5.2
Copy number variation of FCGRSB and susceptibility to
autoimmune disease
122
4.5.3
CCLSLI.HIV.andautoimmunity
122
4.5.4
Copy number and complement genes
123
4.6
Summary
123
4.7
Reviews
124
5
Submicroscopic structural variation and genomic disorders
125
5.1
Introduction
125
5.2
Genomic disorders
125
5.2.1
Segmental
duplications and genomic disorders
125
Вох5Л
Genomic
disorders
125
5.2.2
Recurrent rearrangements involvi ng chromosome 22q1
1 126
CONTENTS ¡x
Box
5.2
DiGeorge
syndrome and velocardiofacial syndrome
128
Box
5.3
Williams-Beuren syndrome
128
5.2.3
Reciprocal genomic disorders
128
Box
5.4
Charcot-Marie-Tooth disease
130
5.2.4
Non-recurrent genomic disorders
131
Box
5.5
Parkinson's disease
131
5.2.5
Genomic disorders and control of gene expression
132
5.2.6
Genomic disorders showing parent of origin effects
132
5.3
Terminal deletions and subtelomeric disease
132
Box
5.6
Prader-Willi syndrome
133
Box
5.7
Angelman
syndrome
133
Box
5.8
Terminal deletion of chromosome 1p36 syndrome
135
Box
5.9
Cri du
chat syndrome
135
5.4
Pathogenic copy number variation, mental retardation, and autism
136
5.4.1
Subtelomeric rearrangements and ¡diopathic mental retardation
136
5.4.2
Copy number variation among cases of mental retardation
136
Box
5.10
De novo
deletion at
1
7q21
.31
and mental retardation
137
Box
5.11
Autism spectrum disorders
138
5.4.3
De novo
copy number mutations and autism
138
5.5
Inversions in health and disease
139
5.5.1
Inversions may cause severe disease
139
Box
5.12
Haemophilia A
139
5.5.2
Inversion and deletion at 17q21.31 with evidence of selection
140
5.5.3
Finding inversions across the human genome
140
5.6
Summary
141
5.7
Reviews
141
6
Segmental
duplications and
indel
polymorphisms
143
6.1
Introduction
143
6.2
Nature and extent of
segmental
duplications
143
6.2.1
Segmental
duplications are common in the human genome
143
Box
6.1
Terminology relating to duplication events
143
6.2.2
Pericentromeric and subtelomeric regions are hotspots for
segmental
duplications
144
6.2.3
Non-allelic homologous recombination,
segmental
duplications
and genomic disorders
147
6.2.4
Alu
elements and
segmental
duplications
147
6.2.5
Segmental
duplications in primates and other species
147
6.3
Duplication and evolution
148
6.3.1
Whole genome duplications
148
6.3.2
Gene creation
T
48
Box
6.2
Juxtaposition of
segmental
duplications leading to new genes
149
6.3.3
Duplication rates over evolutionary timescales
150
6.3.4
Evolutionary fate of duplicated genes
150
χ
CONTENTS
Box
6.3
Pseudogenes
151
6.4
Gene duplication and multigene families
151
6.4.1
Olfactory receptor and globin supergene families
151
6.4.2
Models for the evolution of multigene families
152
Box
6.4
RibosomalRNA
Τ
54
Box
6.5
Gene conversion
154
Box
6.6
CASPI
2
gene duplication and selective advantage of an
inactive
pseudogene
155
6.4.3
Immunoglobulin gene families
155
6.5
Segmental
duplication, deletion, and gene conversion
156
6.5.1
Lessons from the study of the genetics of colour vision
156
Box
6.7
Trichromatic colour vision
158
Box
6.8
Red-green colour vision defects
158
Box
6.9
Rhesus blood group and disease
T
60
6.5.2
Rhesus blood groups: genetic diversity involving duplication
and deletion
161
6.6
Insertion/deletion polymorphisms:'indels'
161
Box
6.10
Indels
162
6.6.1
Human-specific indels and selection
163
6.6.2
Mapping the extent of
indel
polymorphism
163
6.6.3
Functional consequences of indels
165
6.7
Summary
165
6.8
Reviews
166
7
Tandem repeats
167
7.1
Introduction
167
7.2
Satellite
DNA 167
Box
7.1
Satellites,
minisatellites,
and
microsatellites
168
7.2.1
A functional role for satellite
DNA? 169
7.2.2
Satellite repeats and disease
169
Box
7.2
Facioscapulohumeral muscular dystrophy
169
7.3
Minisatellite
DNA 170
7.3.1
Polymorphic
minisatellites
170
Box
7.3
Telomeres and tandem repeats
170
7.3.2
Functional effects of
minisatellites
171
7.3.3
Minisatellites
and disease: examples from epilepsy and diabetes
171
Box
7.4
Progressive myoclonic epilepsy
172
Box
7.5
INS variable number tandem repeat
172
7.4
Genetic profiling using mini- and
microsatellites
173
7.4.1 DNA
fingerprinting
173
7.4.2
Genetic profiling using a panel of short tandem repeats
174
7.5
Microsatellite
DNA 174
7.5.1
Short tandemly repeated
DNA
sequences are common
and polymorphic
174
CONTENTS
xi
7.5.2
Classification and occurrence
of
microsatellites
174
7.5.3
Generation and loss of
microsatellite
DNA 176
Box
7.6
Genome-wide survey of human
microsatellites
177
7.5.4
Utility of
microsatellite
markers
179
7.5.5
Functional consequences of
microsatellites
180
Box
7.7
Hereditary non-polyposis colorectal cancer and
microsatellite
instability
181
7.6
Unstable repeats and neurological disease
182
7.6.1
Trinucleotide repeat expansion and loss of function: lessons from
fragile X and Friedreich's
ataxia
184
Box
7.8
Fragile X syndrome
184
Box
7.9
Fragile X
tremor/ataxia
syndrome
186
Box
7.10
Friedreich's
ataxia
187
7.6.2
Polyglutamine disorders
187
Box
7.11
Spinocerebellar
ataxia
188
Box
7.12
Spinal and bulbar muscular atrophy (Kennedy's disease)
189
Box
7.13
Huntington's disease
189
Box
7.14
Predictive testing for Huntington's disease
190
7.6.3
Disease resulting from RNA-mediated gain of function:
myotonic dystrophy
190
Box
7.15
Myotonic dystrophy
191
7.7
Summary
191
7.8
Reviews
193
8
Mobile
DNA
elements
195
8.1
Introduction
195
Box
8.1
Mobile
DNA
elements
195
8.2 DNA
transposons:
a fossil record in the genome
198
Box
8.2
Transposable elements and exaptation
199
8.3
LI retrotransposable elements
199
Box
8.3
SETMAR and gene fusion
201
8.4
Alu
elements: parasites of LI
s
202
8.4.1
Extent and diversity of
Alu
elements
202
8.4.2
Consequences of
Alu
insertions
202
8.5
Mobile
DNA
elements and human population genetics
204
Box
8.4
Diversity in recent
Alu
and LI insertions
204
8.5.1
Genetic diversity and human origins
204
Box
8.5
Recent African Origins hypothesis
206
8.6
Summary
207
8.7
Reviews
209
9
SNPs, HapMap, and common disease
211
9.1
Introduction
211
9.2
SNPs, association, and genetic susceptibility to common disease
211
xii
CONTENTS
9.2.1
Strategie
approaches
212
9.2.2
Surveying
SNP
diversity: lessons from the
SNP
Consortium
and Human Genome Project
213
9.2.3
Haplotype blocks and haplotype tagging SNPs
214
9.2.4
The International HapMap Project
215
Box
9.1
Phase I HapMap populations
217
9.2.5
Large scale
SNP
mapping and insights into recombination
221
Box
9.2
SNP-related databases
222
9.3
Genome-wide association studies
224
9.3.1
Insights into the design, analysis, and interpretation of
genome-wide association studies
226
9.3.2
The Wellcome Trust Case Control Consortium study of seven
common diseases
230
9.3.3
FTO and common obesity traits
234
9.4
Age-related
macular
degeneration
234
Box
9.3
Age-related
macular
degeneration
236
9.4.1
Genome-wide association, linkage, and complement factor
H
gene
237
9.4.2
Disease association at the
1
0q26 susceptibility locus
238
9.5
Lessons from inflammatory bowel disease
240
9.5.1
A role for inherited factors in inflammatory bowel disease
240
Box
9.4
Inflammatory bowel disease
241
9.5.2
Crohn's disease and variants of the NOD2 gene
241
Box
9.5
NOD2 and genome-wide association studies
245
9.5.3
Linkage studies and other inflammatory bowel disease
susceptibility loci
245
9.5.4
Genome-wide association studies and inflammatory bowel disease
248
9.5.5
Genetic diversity in IL23R pathway genes and inflammatory
bowel disease
248
9.5.6
Autophagy and Crohn's disease
252
Box
9.6
Autophagy
253
9.5.7
Insights from the Wellcome Trust Case Control Consortium study
253
9.5.8
Gene deserts and other loci
254
9.6
Summary
255
9.7
Reviews
256
10
Fine scale sequence diversity and signatures of selection
257
10.1
introduction
257
10.2
Genetic diversity and evidence of selection
257
10.2.1
Hitch-hiking and selective sweeps
258
10.2.2
Extended haplotypes of high frequency
258
10.2.3
Differences in allele frequency
258
10.2.4
Comparisons between species
260
10.3
Evidence for selection at a nucleotide level from sequencing
the chimpanzee and macaque genomes
261
10.3.1
Diversity between the human and chimpanzee genomes
261
CONTENTS xiii
Box
10.1
Sequencing the chimpanzee genome
262
10.3.2
Sequencing the rhesus macaque provides new insights into
genetic diversity and selection
264
Box
10.2
Sequencing the macaque genome
264
10.4
Lactase persistence
265
Box
10.3
Lactase persistence, adult-type hypolactasia,
and congenital lactase deficiency
265
10.4.1
Genetic diversity and lactase persistence in European populations
266
10.4.2
Different
alíeles
show association among African
pastoralists
269
10.4.3
Lactase persistence in Middle Eastern populations
269
10.4.4
Diversity within an enhancer region modulating LCT expression
270
10.5
Human pigmentation, diversity at SLC24AS, and insights from zebrafish
271
10.5.1
Genetics of pigmentation
271
10.5.2
Golden zebrafish mutants led to the identification of SLC24A5
271
10.5.3
Variation at SLC24AS, skin pigmentation, and evidence of selection
272
10.6
Genome-wide analyses
272
10.7
Summary
275
10.8
Reviews
276
11
Genetics of gene expression
277
11.1
Introduction
277
11.2
Variation in gene expression is common and heritable
278
Box
11.1
Lymphoblastoid cell lines
279
11.3
Mapping the genetic basis of variation in gene expression
279
11.3.1
Genetical genomics
279
11.3.2
Local and distant regulatory variation
280
Box
11.2
Quantitative trait loci
281
11.3.3
Genetical genomics and model organisms
281
11.4
Mapping genetic variation and gene expression in human populations
285
11.4.1
Insights from lymphoblastoid cell lines
285
11.4.2
Insights into genetic susceptibility to asthma
288
Box
11.3
Asthma
289
11.4.3
Genetics of gene expression in primary human cells and tissues
291
Box
11.4
Genetic determinants of HDL cholesterol
293
П.5
AlleJe-specificgene expression
294
11.5.1
Allele-specific gene expression among
autósomat
non-imprinted genes
294
Box
11.5
Genomic imprinting
295
Box
11.6
Quantification of alleie-specific gene expression
296
11.5.2
Large scale analysis of allele-specific gene expression
298
11.5.3
Allele-specific expression based on
RNA
polymerase loading
299
Box
11.7
Chromatin immunoprecipitation
300
11.6
Genetic variation and alternative splicing
300
11.6.1
Alternative splicing in health and disease
301
11.6.2
Common genetic variation and alternative splicing
301
xiv CONTENTS
11.7
Genetic
variation:
from
transcriptome
to proteome
303
Box
11.8
Genetic variation and 1L6 receptor levels
305
11.8
Summary
306
11.9
Reviews
307
12
Extreme diversity in the major histocompatibility complex
309
12.1
Introduction
309
12.2
MHC genes, the immune response, and disease
309
12.2.1
MHC class I and II molecules
310
Box
12.1
Class I molecules and antigen presentation via the
endogenous pathway
311
Box
12.2
Class II molecules and antigen presentation via the
exogenous pathway
312
12.2.2
Biological complexity among the many genes found in the
human MHC
312
12.2.3
Genetic diversity in the MHC and disease:
insights from rheumatoid arthritis
313
Box
12.3
Non-MHC disease associations with rheumatoid arthritis
315
12.3
Polymorphism, haplotypes, and disease
31 6
12.3.1
Infectious disease, selection, and maintenance of MHC polymorphism
316
12.3.2
Ancestral haplotypes
317
12.3.3
Abacavir hypersensitivity
317
Box
12.4
Functional consequences of the
8.1
haplotype
317
12.3.4
Extreme polymorphism at HM-DRB7
318
Box
12.5
Pharmacogenomics and abacavir hypersensitivity
318
12.3.5
The MHC Haplotype Project
319
Box
12.6
MHC haplotypes associated with disease
320
12.3.6
A map of diversity across the MHC
321
12.4
Getting in the groove: diversity in MHC class II
alíeles
321
12.4.1
Narcolepsy
321
Box
12.7
Narcolepsy
323
12.4.2
Coel
iac
disease
323
12.4.3
Type
1
diabetes
324
Box
12.8
Non-MHC associations with
typel
diabetes
325
12.5
HLA-B27 and susceptibility to ankylosing spondylitis
326
Box
12.9
Non HLA-B27
associations with ankylosing spondylitis
327
Box
12.10
Models of HLA-B27 and disease mechanism in ankylosing
spondylitis
329
12.6
Genetic variation and haemochromatosis
330
Box
12.11
Lessons from
murine
studies of HFE
332
12.7
Many forms of genetic diversity are exhibited by complement C4
333
Box
12.12
Complement C4A and C4B
334
12.8
A SNP modulating the splicing of the BTNL2 gene is associated
with sarcoidosis
337
Box
12.13
Sarcoidosis
337
CONTENTS
xv
12.9
Summary
339
12.10
Reviews
340
13
Parasite wars
341
13.1
Introduction
341
13.2
Malaria, genetic diversity, and selection
342
13.2.1
Inherited factors and resistance to malaria
342
Box
13.1
Malaria
343
13.2.2
Thalassaemia, natural selection and malaria
345
13.2.3
Malaria and structural haemoglobin variants
348
13.2.4
Duffy antigen and vivax malaria
350
13.2.5
Malaria parasites, oxidative stress, and G6PD enzyme deficiency
352
Box
13.2
Glucose-ô-phosphate
dehydrogenase deficiency
352
13.2.6
Polymorphism of immune genes
353
Box
13.3
Resistance to malaria among the Fulani
356
13.2.7
Cytoadhesion and immune evasion: host and parasite diversity
357
13.3
Genetic diversity and susceptibility to Leishmaniasis in mouse and man
358
Box
13.4
Leishmaniasis
358
13.4
Helminth infection
360
13.4.1
Genetic susceptibility to
Ascaris
infection
360
13.4.2
Schistosomiasis and other helminth infections
360
Box
13.5
Schistosomiasis
363
13.5
Summary
363
13.6
Reviews
364
14
Human genetic diversity and
HIV 365
14.1
Introduction
365
Box
14.1 HIV
and AIDS
365
14.2
Genetic variation in coreceptors and coreceptor ligands
367
14.2.1
Polymorphism of
ССИб
and HIV-1 infection
367
Box
14.2 HIV
infection
369
Box
14.3
Variants of
HIV,
coreceptor specificity, and disease progression
370
14.2.2
Haplotypic structure of the CCR5 locus: evolutionary insights,
variation between ethnic groups, and relationship to HIV-1
disease susceptibility
372
Box
14.4
CCR2 polymorphism and disease progression in HIV-1 infection
373
14.2.3
Coreceptor ligands and HIV-1
375
14.2.4
Copies count: copy number variation in CCL3L1
,
a natural
ligand of CCR5, and
HIV
disease
376
14.3
Barriers to retrovira! infection
377
14.3.1
Genetic diversity in TRIM5a gives insights into the impact of
retroviruses during primate evolution
377
Box
14.5
Analysis of primate sequence diversity reveals ancient positive
selection in TRIM5a and defines a key functional element of
the protein
380
xvi CONTENTS
14.3.2
АРОВЕСЗС:
an
innate host defence mechanism against
retroviral infection
380
14.4
Genetic diversity in
HLA,
KIR, and HIV-1
:
strategies for survival
381
Box
14.6
Polymorphism of KIRs in health, evolution, and disease
383
14.5
Summary
384
14.6
Reviews
385
Ί
5
Concluding remarks and future directions
387
15.1
Introduction
387
15.2
Cataloguing human genetic variation
387
15.3
Genetics of disease
389
15.4
Functional consequences of genetic variation
389
15.5
Medical applications and pharmacogenomics
390
15.6
Lessons from the past, looking to the future
391
Glossary
393
References
401
Index
467 |
| any_adam_object | 1 |
| author | Knight, Julian C. |
| author_facet | Knight, Julian C. |
| author_role | aut |
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| callnumber-first | Q - Science |
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| callnumber-sort | QH 3431 |
| callnumber-subject | QH - Natural History and Biology |
| classification_rvk | WG 7000 |
| ctrlnum | (OCoLC)308218627 (DE-599)BVBBV035714939 |
| dewey-full | 616/.042 599.935 |
| dewey-hundreds | 600 - Technology (Applied sciences) 500 - Natural sciences and mathematics |
| dewey-ones | 616 - Diseases 599 - Mammalia |
| dewey-raw | 616/.042 599.935 |
| dewey-search | 616/.042 599.935 |
| dewey-sort | 3616 242 |
| dewey-tens | 610 - Medicine and health 590 - Animals |
| discipline | Biologie Medizin |
| edition | 1. publ. |
| format | Book |
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| id | DE-604.BV035714939 |
| illustrated | Illustrated |
| indexdate | 2024-08-14T00:52:23Z |
| institution | BVB |
| isbn | 9780199227709 0199227705 9780199227693 0199227691 |
| language | English |
| lccn | 2009014872 |
| oai_aleph_id | oai:aleph.bib-bvb.de:BVB01-017991808 |
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| physical | XIX, 480 S. Ill., graph. Darst., Kt. |
| publishDate | 2009 |
| publishDateSearch | 2009 |
| publishDateSort | 2009 |
| publisher | Oxford Univ. Press |
| record_format | marc |
| spelling | Knight, Julian C. Verfasser aut Human genetic diversity functional consequences for health and disease Julian C. Knight 1. publ. Oxford [u.a.] Oxford Univ. Press 2009 XIX, 480 S. Ill., graph. Darst., Kt. txt rdacontent n rdamedia nc rdacarrier Human genetics Variation Human molecular genetics Human evolution Genetische Variabilität (DE-588)4264352-1 gnd rswk-swf Krankheit (DE-588)4032844-2 gnd rswk-swf Mensch (DE-588)4038639-9 gnd rswk-swf Genetische Variabilität (DE-588)4264352-1 s Mensch (DE-588)4038639-9 s DE-604 Krankheit (DE-588)4032844-2 s b DE-604 Digitalisierung UB Regensburg application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=017991808&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis |
| spellingShingle | Knight, Julian C. Human genetic diversity functional consequences for health and disease Human genetics Variation Human molecular genetics Human evolution Genetische Variabilität (DE-588)4264352-1 gnd Krankheit (DE-588)4032844-2 gnd Mensch (DE-588)4038639-9 gnd |
| subject_GND | (DE-588)4264352-1 (DE-588)4032844-2 (DE-588)4038639-9 |
| title | Human genetic diversity functional consequences for health and disease |
| title_auth | Human genetic diversity functional consequences for health and disease |
| title_exact_search | Human genetic diversity functional consequences for health and disease |
| title_full | Human genetic diversity functional consequences for health and disease Julian C. Knight |
| title_fullStr | Human genetic diversity functional consequences for health and disease Julian C. Knight |
| title_full_unstemmed | Human genetic diversity functional consequences for health and disease Julian C. Knight |
| title_short | Human genetic diversity |
| title_sort | human genetic diversity functional consequences for health and disease |
| title_sub | functional consequences for health and disease |
| topic | Human genetics Variation Human molecular genetics Human evolution Genetische Variabilität (DE-588)4264352-1 gnd Krankheit (DE-588)4032844-2 gnd Mensch (DE-588)4038639-9 gnd |
| topic_facet | Human genetics Variation Human molecular genetics Human evolution Genetische Variabilität Krankheit Mensch |
| url | http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=017991808&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA |
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