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  • 1
    Electronic Resource
    Electronic Resource
    POLYGENIC AND MULTIFACTORIAL DISEASE GENE ASSOCIATION IN MAN: Lessons from AIDS1 (2000)
    Palo Alto, Calif. : Annual Reviews
    Annual Review of Genetics 34 (2000), S. 563-591 
    Details
    ISSN: 0066-4197
    Source: Annual Reviews Electronic Back Volume Collection 1932-2001ff
    Topics: Biology
    Notes: Abstract In an age when the majority of monogenic human disease genes have been identified, a particular challenge for the coming generation of human geneticists will be resolving complex polygenic and multifactorial diseases. The tools of molecular and population genetic association have much potential as well as peril in uncovering small cryptic genetic effects in disease. We have used a candidate gene approach to identify eight distinct human loci with alleles that in different ways influence the outcome of exposure to HIV-1, the AIDS virus. The successes in these gene hunts have validated the approach and illustrate the strengths and limitations of association analysis in an actual case history. The integration of genetic associations, well-described clinical cohorts, extensive basic research on AIDS pathogenesis, and functional interpretation of gene connections to disease offers a formula for detecting such genes in complex human genetic phenotypes.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1146/annurev.genet.34.1.563
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    THE FELINE GENOME PROJECT1 (2002)
    Palo Alto, Calif. : Annual Reviews
    Annual Review of Genetics 36 (2002), S. 657-686 
    Details
    ISSN: 0066-4197
    Source: Annual Reviews Electronic Back Volume Collection 1932-2001ff
    Topics: Biology
    Notes: Abstract The compilation of a dense gene map and eventually a whole genome sequence (WGS) of the domestic cat holds considerable value for human genome annotation, for veterinary medicine, and for insight into the evolution of genome organization among mammals. Human association and veterinary studies of the cat, its domestic breeds, and its charismatic wild relatives of the family Felidae have rendered the species a powerful model for human hereditary diseases, for infectious disease agents, for adaptive evolutionary divergence, for conservation genetics, and for forensic applications. Here we review the advantages, rationale, and present strategy of a feline genome project, and we describe the disease models, comparative genomics, and biological applications posed by the full resolution of the cat's genome.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1146/annurev.genet.36.060602.145553
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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    Comparative genome organization of the major histocompatibility complex: lessons from the Felidae (1999)
    Oxford, UK : Blackwell Publishing Ltd
    Immunological reviews 167 (1999), S. 0 
    Details
    ISSN: 1600-065X
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Summary: The mammalian major histocompatibility complex (MHC) has taught both immunologists and evolutionary biologists a great deal about the patterns and processes that have led to immune defenses. Driven principally by human and mouse studies, comparative MHC projects among other mammalian species offer certain advantages in connecting MHC genome characters to natural situations. We have studied the MHC in the domestic cat and in several wild species of Felidae. Our observations affirm class I and class II homology with other mammalian orders, derivative gene duplications during the Felidae radiation, abundant persistent trans-species allele polymorphism, recombination-derived amino acid motifs, and inverted ratios of non-synonymous to silent substitutions in the MHC peptide-binding regions, consistent with overdominant selection in class I and II genes. MHC diversity as quantified in population studies is a powerful barometer of historic demographic reduction for several endangered species including cheetahs, Asiatic lions, Florida panthers and tigers. In two cases (Florida panther and cheetah), reduced MHC variation may be contributing to uniform population sensitivity to emerging infectious pathogens. The Felidae species, nearly all endangered and monitored for conservation concerns, have allowed a glimpse of species adaptation, mediated by MHC divergence, using comparative inferences drawn from human and mouse models.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1600-065X.1999.tb01387.x
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  • 4
    Electronic Resource
    Electronic Resource
    THE INFLUENCE OF HLA GENOTYPE ON AIDS* (2003)
    Palo Alto, Calif. : Annual Reviews
    Annual Review of Medicine 54 (2003), S. 535-551 
    Details
    ISSN: 0066-4219
    Source: Annual Reviews Electronic Back Volume Collection 1932-2001ff
    Topics: Medicine
    Notes: Abstract Genetic resistance to infectious diseases is likely to involve a complex array of immune-response and other genes with variants that impose subtle but significant consequences on gene expression or protein function. We have gained considerable insight into the genetic determinants of HIV-1 disease, and the HLA class I genes appear to be highly influential in this regard. Numerous reports have identified a role for HLA genotype in AIDS outcomes, implicating many HLA alleles in various aspects of HIV disease. Here we review the HLA associations with progression to AIDS that have been consistently affirmed and discuss the underlying mechanisms behind some of these associations based on functional studies of immune cell recognition.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1146/annurev.med.54.101601.152346
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    Paper (German National Licenses)
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  • 5
    Electronic Resource
    Electronic Resource
    BIG CAT GENOMICS * (2005)
    Palo Alto, Calif. : Annual Reviews
    Annual Review of Genomics and Human Genetics 6 (2005), S. 407-429 
    Details
    ISSN: 1527-8204
    Source: Annual Reviews Electronic Back Volume Collection 1932-2001ff
    Topics: Biology
    Notes: Advances in population and quantitative genomics, aided by the computational algorithms that employ genetic theory and practice, are now being applied to biological questions that surround free-ranging species not traditionally suitable for genetic enquiry. Here we review how applications of molecular genetic tools have been used to describe the natural history, present status, and future disposition of wild cat species. Insight into phylogenetic hierarchy, demographic contractions, geographic population substructure, behavioral ecology, and infectious diseases have revealed strategies for survival and adaptation of these fascinating predators. Conservation, stabilization, and management of the big cats are important areas that derive benefit from the genome resources expanded and applied to highly successful species, imperiled by an expanding human population.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1146/annurev.genom.6.080604.162151
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  • 6
    Electronic Resource
    Electronic Resource
    BALANCED POLYMORPHISM SELECTED BY GENETIC VERSUS INFECTIOUS HUMAN DISEASE* (2002)
    Palo Alto, Calif. : Annual Reviews
    Annual Review of Genomics and Human Genetics 3 (2002), S. 263-292 
    Details
    ISSN: 1527-8204
    Source: Annual Reviews Electronic Back Volume Collection 1932-2001ff
    Topics: Biology
    Notes: Abstract The polymorphisms within the human genome include several functional variants that cause debilitating inherited diseases. An elevated frequency of some of these deleterious mutations can be explained by a beneficial effect that confers a selective advantage owing to disease resistance in carriers of such mutations during an infectious disease outbreak. We here review plausible examples of balanced functional polymorphisms and their roles in the defense against pathogens. The genome organization of the chemokine receptor and HLA gene clusters and their influence on the HIV/AIDS epidemic provides compelling evidence for the interaction of infectious and genetic diseases in recent human history.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1146/annurev.genom.3.022502.103149
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  • 7
    Electronic Resource
    Electronic Resource
    The effect of genetic variation in chemokines and their receptorson HIV transmission and progression to AIDS (2000)
    Copenhagen : Munksgaard International Publishers
    Immunological reviews 177 (2000), S. 0 
    Details
    ISSN: 1600-065X
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1034/j.1600-065X.2000.17710.x
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  • 8
    Electronic Resource
    Electronic Resource
    CCR2 chemokine receptor and AIDS progression (1997)
    [s.l.] : Nature Publishing Group
    Nature medicine 3 (1997), S. 1052-1053 
    Details
    ISSN: 1546-170X
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] Recently we reported an association between the CCR2-64I chemokine receptor mutation and delayed onset of AIDS1. Michael et al. have now examined the San Francisco Mens Health Study (SFMHS) AIDS cohort for CCR2 genotypes and in this issue of Nature Medicine report that they fail to detect the ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/nm1097-1052c
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    Paper (German National Licenses)
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  • 9
    Electronic Resource
    Electronic Resource
    AIDS restriction HLA allotypes target distinct intervals of HIV-1 pathogenesis (2005)
    [s.l.] : Nature Publishing Group
    Nature medicine 11 (2005), S. 1290-1292 
    Details
    ISSN: 1546-170X
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] An effective acquired immune response to infectious agents mediated by HLA-restricted T-cell recognition can target different stages of disease pathogenesis. We show here that three distinct HLA alleles known to alter the overall rate of AIDS progression act during distinct intervals after HIV-1 ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/nm1333
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  • 10
    Electronic Resource
    Electronic Resource
    Cytonuclear genomic dissociation in African elephant species (2005)
    [s.l.] : Nature Publishing Group
    Nature genetics 37 (2005), S. 96-100 
    Details
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] African forest and savanna elephants are distinct species separated by a hybrid zone. Because hybridization can affect the systematic and conservation status of populations, we examined gene flow between forest and savanna elephants at 21 African locations. We detected cytonuclear dissociation, ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/ng1485
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