Jacob Höglund
- Published in print:
- 2009
- Published Online:
- May 2009
- ISBN:
- 9780199214211
- eISBN:
- 9780191706660
- Item type:
- book
- Publisher:
- Oxford University Press
- DOI:
- 10.1093/acprof:oso/9780199214211.001.0001
- Subject:
- Biology, Biodiversity / Conservation Biology, Evolutionary Biology / Genetics
Conservation genetics focuses on understanding the role and requirement of genetic variation for population persistence. However, considerable debate now surrounds the role of genetic factors (as ...
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Conservation genetics focuses on understanding the role and requirement of genetic variation for population persistence. However, considerable debate now surrounds the role of genetic factors (as opposed to non-genetic factors such as habitat destruction, etc.) in population extinction, and a synthesis is now timely. Can extinction be explained by habitat destruction alone or is lack of genetic variation a part of the explanation? The book reviews the arguments for a role of genetics in the present biodiversity crisis. It describes the methods used to study genetic variation in endangered species and examines the influence of genetic variation in the extinction of species. To date, conservation genetics has predominantly utilized neutral genetic markers, e.g., microsatellites. However, with the recent advances in molecular genetics and genomics it will soon be possible to study ‘direct gene action’, following the fate of genetic variation at the level of DNA, through expression, to proteins in order to determine how such phenotypes fare in populations of free living organisms. This book explores these exciting avenues of future research potential, integrating ecological quantitative genetics with the new genome science. It is now more important than ever that we ask relevant questions about the evolutionary fate of endangered populations throughout the globe and incorporate our knowledge of evolutionary processes and the distribution of genetic diversity into effective conservation planning and action.Less
Conservation genetics focuses on understanding the role and requirement of genetic variation for population persistence. However, considerable debate now surrounds the role of genetic factors (as opposed to non-genetic factors such as habitat destruction, etc.) in population extinction, and a synthesis is now timely. Can extinction be explained by habitat destruction alone or is lack of genetic variation a part of the explanation? The book reviews the arguments for a role of genetics in the present biodiversity crisis. It describes the methods used to study genetic variation in endangered species and examines the influence of genetic variation in the extinction of species. To date, conservation genetics has predominantly utilized neutral genetic markers, e.g., microsatellites. However, with the recent advances in molecular genetics and genomics it will soon be possible to study ‘direct gene action’, following the fate of genetic variation at the level of DNA, through expression, to proteins in order to determine how such phenotypes fare in populations of free living organisms. This book explores these exciting avenues of future research potential, integrating ecological quantitative genetics with the new genome science. It is now more important than ever that we ask relevant questions about the evolutionary fate of endangered populations throughout the globe and incorporate our knowledge of evolutionary processes and the distribution of genetic diversity into effective conservation planning and action.
Robert K. Wayne, Eli Geffen, and Carles Vilà
- Published in print:
- 2004
- Published Online:
- September 2007
- ISBN:
- 9780198515562
- eISBN:
- 9780191705632
- Item type:
- chapter
- Publisher:
- Oxford University Press
- DOI:
- 10.1093/acprof:oso/9780198515562.003.0003
- Subject:
- Biology, Biodiversity / Conservation Biology
This chapter discusses patterns of genetic variation and subdivision in a wide variety of canids. The influence of demographic history and ecological and topographic barriers on levels of variation, ...
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This chapter discusses patterns of genetic variation and subdivision in a wide variety of canids. The influence of demographic history and ecological and topographic barriers on levels of variation, and the effect of interspecific hybridization on the genetic composition of canid populations are discussed. Case studies on the Ethiopian wolf, African wild dog, grey wolf, African jackals, kit fox and swift fox, Island fox, Darwin's fox, Arctic fox, and red fox are reviewed, each ending with a discussion of conservation implications.Less
This chapter discusses patterns of genetic variation and subdivision in a wide variety of canids. The influence of demographic history and ecological and topographic barriers on levels of variation, and the effect of interspecific hybridization on the genetic composition of canid populations are discussed. Case studies on the Ethiopian wolf, African wild dog, grey wolf, African jackals, kit fox and swift fox, Island fox, Darwin's fox, Arctic fox, and red fox are reviewed, each ending with a discussion of conservation implications.
Adrian C. Newton
- Published in print:
- 2007
- Published Online:
- September 2007
- ISBN:
- 9780198567448
- eISBN:
- 9780191717895
- Item type:
- chapter
- Publisher:
- Oxford University Press
- DOI:
- 10.1093/acprof:oso/9780198567448.003.0006
- Subject:
- Biology, Plant Sciences and Forestry
This chapter first considers the process of flowering phenology and pollination, and techniques for measuring fruit production, dispersal, and predation. It then presents methods for analysing the ...
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This chapter first considers the process of flowering phenology and pollination, and techniques for measuring fruit production, dispersal, and predation. It then presents methods for analysing the mating systems of plants and the genetic structure of populations. Topics covered include pollination ecology, flowering and fruiting phenology, seed ecology, and assessment of genetic variation.Less
This chapter first considers the process of flowering phenology and pollination, and techniques for measuring fruit production, dispersal, and predation. It then presents methods for analysing the mating systems of plants and the genetic structure of populations. Topics covered include pollination ecology, flowering and fruiting phenology, seed ecology, and assessment of genetic variation.
Julian C. Knight
- Published in print:
- 2009
- Published Online:
- September 2009
- ISBN:
- 9780199227693
- eISBN:
- 9780191711015
- Item type:
- book
- Publisher:
- Oxford University Press
- DOI:
- 10.1093/acprof:oso/9780199227693.001.0001
- Subject:
- Biology, Evolutionary Biology / Genetics, Disease Ecology / Epidemiology
This book describes the remarkable progress which has been made in defining the extent and nature of human genetic variation, and its many consequences for us as individuals and in understanding ...
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This book describes the remarkable progress which has been made in defining the extent and nature of human genetic variation, and its many consequences for us as individuals and in understanding human origins. A mix of cutting-edge and landmark studies are reviewed to provide an overview of the field combined with in-depth analysis of specific informative examples to show how progress has been achieved and likely future directions. The major classes of genetic variation are described, ranging from chromosomal level variation, to submicroscopic structural variation, to fine scale sequence level variation. The substantial progress achieved in defining the genetic basis of diseases is described for both diseases showing Mendelian inheritance and common multifactorial diseases. Efforts to catalogue human genetic variation, insights into genomic disorders, the role of copy number variation, segmental duplications and tandem repeats are highlighted together with progress which has lead to recent success with genome-wide association studies. Other chapters highlight the genetics of gene expression, evidence of selection and susceptibility to diseases such as malaria and HIV infection. Human genetic variation has implications across a broad range of disciplines and this text aims to consolidate work in diverse fields to highlight common themes and principles. To facilitate this the basic principles of human molecular genetics are described throughout the text, which is extensively illustrated.Less
This book describes the remarkable progress which has been made in defining the extent and nature of human genetic variation, and its many consequences for us as individuals and in understanding human origins. A mix of cutting-edge and landmark studies are reviewed to provide an overview of the field combined with in-depth analysis of specific informative examples to show how progress has been achieved and likely future directions. The major classes of genetic variation are described, ranging from chromosomal level variation, to submicroscopic structural variation, to fine scale sequence level variation. The substantial progress achieved in defining the genetic basis of diseases is described for both diseases showing Mendelian inheritance and common multifactorial diseases. Efforts to catalogue human genetic variation, insights into genomic disorders, the role of copy number variation, segmental duplications and tandem repeats are highlighted together with progress which has lead to recent success with genome-wide association studies. Other chapters highlight the genetics of gene expression, evidence of selection and susceptibility to diseases such as malaria and HIV infection. Human genetic variation has implications across a broad range of disciplines and this text aims to consolidate work in diverse fields to highlight common themes and principles. To facilitate this the basic principles of human molecular genetics are described throughout the text, which is extensively illustrated.
Tim M. Blackburn, Julie L. Lockwood, and Phillip Cassey
- Published in print:
- 2009
- Published Online:
- September 2009
- ISBN:
- 9780199232543
- eISBN:
- 9780191715983
- Item type:
- chapter
- Publisher:
- Oxford University Press
- DOI:
- 10.1093/acprof:oso/9780199232543.003.0008
- Subject:
- Biology, Ornithology, Biodiversity / Conservation Biology
This chapter considers the long-term outcomes of exotic bird establishment in terms of the propensity for evolution in exotic bird populations. It shows that exotic birds have occasionally lost ...
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This chapter considers the long-term outcomes of exotic bird establishment in terms of the propensity for evolution in exotic bird populations. It shows that exotic birds have occasionally lost substantial amounts of genetic variation via the introduction process, but that just as many (if not more) populations have not lost genetic variation. It is difficult to pin down the influence that the loss or gain of genetic variation has on establishment success; this is a research area that is ripe for exploration.Less
This chapter considers the long-term outcomes of exotic bird establishment in terms of the propensity for evolution in exotic bird populations. It shows that exotic birds have occasionally lost substantial amounts of genetic variation via the introduction process, but that just as many (if not more) populations have not lost genetic variation. It is difficult to pin down the influence that the loss or gain of genetic variation has on establishment success; this is a research area that is ripe for exploration.
Jacob Höglund
- Published in print:
- 2009
- Published Online:
- May 2009
- ISBN:
- 9780199214211
- eISBN:
- 9780191706660
- Item type:
- chapter
- Publisher:
- Oxford University Press
- DOI:
- 10.1093/acprof:oso/9780199214211.003.0001
- Subject:
- Biology, Biodiversity / Conservation Biology, Evolutionary Biology / Genetics
This chapter begins with a brief introduction to the focus of this book, which is the idea that extinction of species is somehow related to loss of genetic variation. Theoretical considerations ...
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This chapter begins with a brief introduction to the focus of this book, which is the idea that extinction of species is somehow related to loss of genetic variation. Theoretical considerations suggest that small — that is, endangered — populations are different from large ones in two important aspects. The level of inbreeding is increased and likewise the importance of genetic drift, the stochastic loss of alleles, in shaping a population's genetic architecture is increased. Both these processes ultimately lead to loss of genetic variation. The chapter examines each of these arguments. It considers experimental studies that tested whether inbreeding and/or reduced levels of genetic variation leads to greater extinction risk. It shows that many studies of genetic causes for extinction seem to suggest that inbreeding depression is the main genetic problem in conservation biology. On the other hand, hardly any study has convincingly shown that reduced adaptability or fixation of mildly deleterious alleles have contributed to extinction. Thus, it seems prudent for conservation geneticists to focus on inbreeding and inbreeding depression.Less
This chapter begins with a brief introduction to the focus of this book, which is the idea that extinction of species is somehow related to loss of genetic variation. Theoretical considerations suggest that small — that is, endangered — populations are different from large ones in two important aspects. The level of inbreeding is increased and likewise the importance of genetic drift, the stochastic loss of alleles, in shaping a population's genetic architecture is increased. Both these processes ultimately lead to loss of genetic variation. The chapter examines each of these arguments. It considers experimental studies that tested whether inbreeding and/or reduced levels of genetic variation leads to greater extinction risk. It shows that many studies of genetic causes for extinction seem to suggest that inbreeding depression is the main genetic problem in conservation biology. On the other hand, hardly any study has convincingly shown that reduced adaptability or fixation of mildly deleterious alleles have contributed to extinction. Thus, it seems prudent for conservation geneticists to focus on inbreeding and inbreeding depression.
Jacob Höglund
- Published in print:
- 2009
- Published Online:
- May 2009
- ISBN:
- 9780199214211
- eISBN:
- 9780191706660
- Item type:
- chapter
- Publisher:
- Oxford University Press
- DOI:
- 10.1093/acprof:oso/9780199214211.003.0005
- Subject:
- Biology, Biodiversity / Conservation Biology, Evolutionary Biology / Genetics
This chapter focuses on genes under selection. Much of what is known about ‘ecologically relevant’ genetic variation at the level of DNA sequences comes from studies of genes of the major ...
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This chapter focuses on genes under selection. Much of what is known about ‘ecologically relevant’ genetic variation at the level of DNA sequences comes from studies of genes of the major histocompatibility complex (Mhc genes). This gene family codes for cell-surface proteins involved in immunoresistance in vertebrates. The chapter briefly reviews evidence for selection on Mhc loci, links to parasite resistance, and consequences of lost genetic variation at Mhc loci. It also considers other candidate genes. Examples of such that may be relevant in conservation are genes coding for animal pigmentation (such as mc1r) and clock genes (involved in photoperiodism). It is shown that selection may both maintain genetic variation, through balancing selection, and erode it, through purifying and directional selection.Less
This chapter focuses on genes under selection. Much of what is known about ‘ecologically relevant’ genetic variation at the level of DNA sequences comes from studies of genes of the major histocompatibility complex (Mhc genes). This gene family codes for cell-surface proteins involved in immunoresistance in vertebrates. The chapter briefly reviews evidence for selection on Mhc loci, links to parasite resistance, and consequences of lost genetic variation at Mhc loci. It also considers other candidate genes. Examples of such that may be relevant in conservation are genes coding for animal pigmentation (such as mc1r) and clock genes (involved in photoperiodism). It is shown that selection may both maintain genetic variation, through balancing selection, and erode it, through purifying and directional selection.
Julian C. Knight
- Published in print:
- 2009
- Published Online:
- September 2009
- ISBN:
- 9780199227693
- eISBN:
- 9780191711015
- Item type:
- chapter
- Publisher:
- Oxford University Press
- DOI:
- 10.1093/acprof:oso/9780199227693.003.0001
- Subject:
- Biology, Evolutionary Biology / Genetics, Disease Ecology / Epidemiology
Study of genetic variation at the globin genes has provided a series of fundamental insights the nature and extent of genetic diversity and its functional consequences. This chapter provides a primer ...
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Study of genetic variation at the globin genes has provided a series of fundamental insights the nature and extent of genetic diversity and its functional consequences. This chapter provides a primer in human molecular genetics through a systematic review of the elucidation of the genetic basis of haemoglobin S, responsible for sickle cell disease and trait. A review of genetic diversity at or near the globin genes responsible for other structural variants of haemoglobin and the haemoglobinopathies is described. This allows the major classes of genetic variation found in man to be introduced, ranging from fine scale nucleotide diversity to larger scale structural variation. The functional consequences of such diversity are discussed with a number of different examples given. The chapter concludes with a review of the remarkable successes achieved through completion of sequencing the human genome including insights into genetic variation.Less
Study of genetic variation at the globin genes has provided a series of fundamental insights the nature and extent of genetic diversity and its functional consequences. This chapter provides a primer in human molecular genetics through a systematic review of the elucidation of the genetic basis of haemoglobin S, responsible for sickle cell disease and trait. A review of genetic diversity at or near the globin genes responsible for other structural variants of haemoglobin and the haemoglobinopathies is described. This allows the major classes of genetic variation found in man to be introduced, ranging from fine scale nucleotide diversity to larger scale structural variation. The functional consequences of such diversity are discussed with a number of different examples given. The chapter concludes with a review of the remarkable successes achieved through completion of sequencing the human genome including insights into genetic variation.
Ádám Miklósi
- Published in print:
- 2007
- Published Online:
- January 2008
- ISBN:
- 9780199295852
- eISBN:
- 9780191711688
- Item type:
- chapter
- Publisher:
- Oxford University Press
- DOI:
- 10.1093/acprof:oso/9780199295852.003.0005
- Subject:
- Biology, Animal Biology
This chapter deals with one of the most long-debated question about how dogs became domesticated. Traditional understanding of this process was based on the finding of archaeologists that are, ...
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This chapter deals with one of the most long-debated question about how dogs became domesticated. Traditional understanding of this process was based on the finding of archaeologists that are, however, restricted to only a few geographic locations and time periods. The possibility of scientific inquiry about domestication has changed with the introduction of novel phylogenetic approaches based on molecular biological methods, which, however, are also not without problems. The chapter provides an introduction to constraints presented by both the archaeological and the phylogenetic investigations, and reviews the problems of tracing genetic evolution. Finally, a possible multi-step framework for dog domestication is presented.Less
This chapter deals with one of the most long-debated question about how dogs became domesticated. Traditional understanding of this process was based on the finding of archaeologists that are, however, restricted to only a few geographic locations and time periods. The possibility of scientific inquiry about domestication has changed with the introduction of novel phylogenetic approaches based on molecular biological methods, which, however, are also not without problems. The chapter provides an introduction to constraints presented by both the archaeological and the phylogenetic investigations, and reviews the problems of tracing genetic evolution. Finally, a possible multi-step framework for dog domestication is presented.
Julian C. Knight
- Published in print:
- 2009
- Published Online:
- September 2009
- ISBN:
- 9780199227693
- eISBN:
- 9780191711015
- Item type:
- chapter
- Publisher:
- Oxford University Press
- DOI:
- 10.1093/acprof:oso/9780199227693.003.0015
- Subject:
- Biology, Evolutionary Biology / Genetics, Disease Ecology / Epidemiology
This final chapter seeks to provide a brief overview of some of the important insights that have been established from work investigating human genetic diversity. The remarkable range of human ...
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This final chapter seeks to provide a brief overview of some of the important insights that have been established from work investigating human genetic diversity. The remarkable range of human genetic variation is discussed together with advances in understanding the genetic basis of disease and the functional consequences of genetic diversity at a molecular level. Longer term application to individualised medical care including pharmacogenomics is reviewed.Less
This final chapter seeks to provide a brief overview of some of the important insights that have been established from work investigating human genetic diversity. The remarkable range of human genetic variation is discussed together with advances in understanding the genetic basis of disease and the functional consequences of genetic diversity at a molecular level. Longer term application to individualised medical care including pharmacogenomics is reviewed.
Julian C. Knight
- Published in print:
- 2009
- Published Online:
- September 2009
- ISBN:
- 9780199227693
- eISBN:
- 9780191711015
- Item type:
- chapter
- Publisher:
- Oxford University Press
- DOI:
- 10.1093/acprof:oso/9780199227693.003.0002
- Subject:
- Biology, Evolutionary Biology / Genetics, Disease Ecology / Epidemiology
In this chapter different approaches to defining the genetic basis of disease are introduced including linkage analysis, positional cloning, linkage disequilibrium mapping and genetic association ...
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In this chapter different approaches to defining the genetic basis of disease are introduced including linkage analysis, positional cloning, linkage disequilibrium mapping and genetic association studies. The basis and applications of such approaches to diseases showing Mendelian patterns of inheritance and common multifactorial traits are reviewed. Considerable success has been achieved for Mendelian traits using a linkage and positional cloning based approach and this is illustrated for cystic fibrosis and Treacher Collins syndrome. The application of linkage disequilibrium mapping is described for diastrophic dysplasia. Genetic association studies to dissect the genetic factors contributing to susceptibility to common multifactorial disease are described including the limitations and successes of candidate gene analysis. A detailed review of the genetics of Alzheimer disease and venous thrombosis is presented which illustrates different approaches to defining the genetic basis of disease, and the underlying functional genetic variants which can be resolved.Less
In this chapter different approaches to defining the genetic basis of disease are introduced including linkage analysis, positional cloning, linkage disequilibrium mapping and genetic association studies. The basis and applications of such approaches to diseases showing Mendelian patterns of inheritance and common multifactorial traits are reviewed. Considerable success has been achieved for Mendelian traits using a linkage and positional cloning based approach and this is illustrated for cystic fibrosis and Treacher Collins syndrome. The application of linkage disequilibrium mapping is described for diastrophic dysplasia. Genetic association studies to dissect the genetic factors contributing to susceptibility to common multifactorial disease are described including the limitations and successes of candidate gene analysis. A detailed review of the genetics of Alzheimer disease and venous thrombosis is presented which illustrates different approaches to defining the genetic basis of disease, and the underlying functional genetic variants which can be resolved.
Norman A. Johnson
- Published in print:
- 2007
- Published Online:
- September 2007
- ISBN:
- 9780195306750
- eISBN:
- 9780199790203
- Item type:
- chapter
- Publisher:
- Oxford University Press
- DOI:
- 10.1093/acprof:oso/9780195306750.003.0011
- Subject:
- Biology, Evolutionary Biology / Genetics
This chapter explores the timing of and evolutionary forces involved in our domestication of animals and plants. How many and which genes were involved? How long ago did these changes occur? Can we ...
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This chapter explores the timing of and evolutionary forces involved in our domestication of animals and plants. How many and which genes were involved? How long ago did these changes occur? Can we detect positive selection at the genetic loci involved? This chapter focuses on dogs and maize domestication. Dogs are derived exclusively from wolves, but are not wolves. Contrary to some early studies, it is now clear that dogs evolved only about 15,000 years ago and arose multiple times. The chapter also discusses results from the recently completed dog genome project. The timing and location of maize domestication are also discussed, as well as one gene that may have played a role in morphological changes as maize became domesticated. It concludes with a discussion about how patterns of human genetic variation may have been affected during the transition from a hunter-gatherer to an agriculture-based lifestyle.Less
This chapter explores the timing of and evolutionary forces involved in our domestication of animals and plants. How many and which genes were involved? How long ago did these changes occur? Can we detect positive selection at the genetic loci involved? This chapter focuses on dogs and maize domestication. Dogs are derived exclusively from wolves, but are not wolves. Contrary to some early studies, it is now clear that dogs evolved only about 15,000 years ago and arose multiple times. The chapter also discusses results from the recently completed dog genome project. The timing and location of maize domestication are also discussed, as well as one gene that may have played a role in morphological changes as maize became domesticated. It concludes with a discussion about how patterns of human genetic variation may have been affected during the transition from a hunter-gatherer to an agriculture-based lifestyle.
Jacob Höglund
- Published in print:
- 2009
- Published Online:
- May 2009
- ISBN:
- 9780199214211
- eISBN:
- 9780191706660
- Item type:
- chapter
- Publisher:
- Oxford University Press
- DOI:
- 10.1093/acprof:oso/9780199214211.003.0002
- Subject:
- Biology, Biodiversity / Conservation Biology, Evolutionary Biology / Genetics
This chapter reviews the most common measures of genetic variation used in conservation genetic studies. These include percentage of polymorphic loci, alleles per locus/allelic richness, expected ...
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This chapter reviews the most common measures of genetic variation used in conservation genetic studies. These include percentage of polymorphic loci, alleles per locus/allelic richness, expected heterozygosity, dominant neutral markers, nucleotide diversity, haplotype diversity, non-neutral markers and neutrality tests, and quantitative additive gene variation.Less
This chapter reviews the most common measures of genetic variation used in conservation genetic studies. These include percentage of polymorphic loci, alleles per locus/allelic richness, expected heterozygosity, dominant neutral markers, nucleotide diversity, haplotype diversity, non-neutral markers and neutrality tests, and quantitative additive gene variation.
Jonine D. Figueroa, Montserrat Garcia-Closas, and Nathaniel Rothman
- Published in print:
- 2009
- Published Online:
- May 2010
- ISBN:
- 9780195398441
- eISBN:
- 9780199776023
- Item type:
- chapter
- Publisher:
- Oxford University Press
- DOI:
- 10.1093/acprof:oso/9780195398441.003.0015
- Subject:
- Public Health and Epidemiology, Public Health, Epidemiology
A literature search was performed using the HuGE Navigator with the term “bladder cancer” and PubMed searches with the terms “ bladder cancer polymorphisms” and “bladder cancer risk variants” through ...
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A literature search was performed using the HuGE Navigator with the term “bladder cancer” and PubMed searches with the terms “ bladder cancer polymorphisms” and “bladder cancer risk variants” through September, 2008 for the purpose of performing systematic meta-analysis. Publications that did not have controls that were related to outcomes other than bladder cancer risk (e.g. survival), or were performed in special populations (e.g. non-smokers), were excluded. From this search, 32 SNPs reported on in three or more studies were identified, and this chapter summarizes the current evidence for the role of common genetic variation in the etiology of the bladder.Less
A literature search was performed using the HuGE Navigator with the term “bladder cancer” and PubMed searches with the terms “ bladder cancer polymorphisms” and “bladder cancer risk variants” through September, 2008 for the purpose of performing systematic meta-analysis. Publications that did not have controls that were related to outcomes other than bladder cancer risk (e.g. survival), or were performed in special populations (e.g. non-smokers), were excluded. From this search, 32 SNPs reported on in three or more studies were identified, and this chapter summarizes the current evidence for the role of common genetic variation in the etiology of the bladder.
André G. Uitterlinden, Joyce B. J. van Meurs, and Fernando Rivadeneira
- Published in print:
- 2009
- Published Online:
- May 2010
- ISBN:
- 9780195398441
- eISBN:
- 9780199776023
- Item type:
- chapter
- Publisher:
- Oxford University Press
- DOI:
- 10.1093/acprof:oso/9780195398441.003.0017
- Subject:
- Public Health and Epidemiology, Public Health, Epidemiology
This chapter discusses gene-disease associations in osteoporosis. Osteoporosis is — together with osteoarthritis — the most common locomotor disease, and its clinical sequela, including fractures, ...
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This chapter discusses gene-disease associations in osteoporosis. Osteoporosis is — together with osteoarthritis — the most common locomotor disease, and its clinical sequela, including fractures, cause substantial disease burden and costs. It has strong genetic influences, and identification of the underlying DNA variants can help in understanding the disease process and might benefit the development of interventions and diagnostics. The GENOMOS and GEFOS consortia have been established, using large collections of DNA samples from subjects with osteoporosis phenotypes that use standardized methodology and definitions. These collaborative consortia have identified — and refuted — associations of well-known candidate genes, and also play an important role in validation of risk alleles from genome-wide association studies (GWAS) for osteoporosis. Together with studies on rare variants, the GWA approach, in combination with the GENOMOS/GEFOS consortia, will help in clarifying the genetic architecture of complex bone traits such as bone mineral density (BMD), and — eventually — in understanding the genetics of fracture risk, the clinically more relevant but biologically more challenging endpoint in osteoporosis.Less
This chapter discusses gene-disease associations in osteoporosis. Osteoporosis is — together with osteoarthritis — the most common locomotor disease, and its clinical sequela, including fractures, cause substantial disease burden and costs. It has strong genetic influences, and identification of the underlying DNA variants can help in understanding the disease process and might benefit the development of interventions and diagnostics. The GENOMOS and GEFOS consortia have been established, using large collections of DNA samples from subjects with osteoporosis phenotypes that use standardized methodology and definitions. These collaborative consortia have identified — and refuted — associations of well-known candidate genes, and also play an important role in validation of risk alleles from genome-wide association studies (GWAS) for osteoporosis. Together with studies on rare variants, the GWA approach, in combination with the GENOMOS/GEFOS consortia, will help in clarifying the genetic architecture of complex bone traits such as bone mineral density (BMD), and — eventually — in understanding the genetics of fracture risk, the clinically more relevant but biologically more challenging endpoint in osteoporosis.
Thomas J. Jr. Bouchard
- Published in print:
- 2008
- Published Online:
- January 2008
- ISBN:
- 9780195332834
- eISBN:
- 9780199868117
- Item type:
- chapter
- Publisher:
- Oxford University Press
- DOI:
- 10.1093/acprof:oso/9780195332834.003.0005
- Subject:
- Philosophy, Philosophy of Mind
This chapter shows that genetic variation is an important feature of virtually every human psychological trait and must be taken into account in any comprehensive explanation (theory) of human ...
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This chapter shows that genetic variation is an important feature of virtually every human psychological trait and must be taken into account in any comprehensive explanation (theory) of human behaviour. It begins by discussing the mistaken but widely held belief that ‘genetic variance’ is an indicator of the biological or evolutionary unimportance of a trait. It then turns to the role of quantitative genetic methods in modern biology. Application of these methods across a very large number of quantitative characteristics of an equally large number of species leads to the conclusion that almost all quantitative characters are heritable. This truism is illustrated for the major domains of normal human individual differences: mental ability, personality, psychological interests, and social attitudes. It is shown that compared with effects in social psychology, ecology, and evolution, as well as psychological assessment and treatment, known quantitative genetic influence on human psychological traits should be considered large in magnitude. The argument that ‘ there are no genes for behaviour’ is refuted using ‘clockwork’genes as an example. Using the example of corn oil, it is also shown the fact that finding genes for a quantitative character can be very difficult. The chapter concludes by pointing out that molecular genetics will not replace quantitative genetics; rather, the two levels of analysis will fit together seamlessly.Less
This chapter shows that genetic variation is an important feature of virtually every human psychological trait and must be taken into account in any comprehensive explanation (theory) of human behaviour. It begins by discussing the mistaken but widely held belief that ‘genetic variance’ is an indicator of the biological or evolutionary unimportance of a trait. It then turns to the role of quantitative genetic methods in modern biology. Application of these methods across a very large number of quantitative characteristics of an equally large number of species leads to the conclusion that almost all quantitative characters are heritable. This truism is illustrated for the major domains of normal human individual differences: mental ability, personality, psychological interests, and social attitudes. It is shown that compared with effects in social psychology, ecology, and evolution, as well as psychological assessment and treatment, known quantitative genetic influence on human psychological traits should be considered large in magnitude. The argument that ‘ there are no genes for behaviour’ is refuted using ‘clockwork’genes as an example. Using the example of corn oil, it is also shown the fact that finding genes for a quantitative character can be very difficult. The chapter concludes by pointing out that molecular genetics will not replace quantitative genetics; rather, the two levels of analysis will fit together seamlessly.
Julian C. Knight
- Published in print:
- 2009
- Published Online:
- September 2009
- ISBN:
- 9780199227693
- eISBN:
- 9780191711015
- Item type:
- chapter
- Publisher:
- Oxford University Press
- DOI:
- 10.1093/acprof:oso/9780199227693.003.0012
- Subject:
- Biology, Evolutionary Biology / Genetics, Disease Ecology / Epidemiology
The Major Histocompatibility Complex on chromosome 6 encodes a diverse array of genes involved in the immune and inflammatory response. The region is remarkably polymorphic and has been associated ...
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The Major Histocompatibility Complex on chromosome 6 encodes a diverse array of genes involved in the immune and inflammatory response. The region is remarkably polymorphic and has been associated with susceptibility to autoimmune and infectious disease. The approaches to defining and understanding the nature and consequences of genetic diversity in the MHC are reviewed in terms of the biology of encoded molecules, evolutionary selective pressures and relationship to disease. Progress in haplotypic analysis of the MHC, resequencing and fine mapping are discussed together with insights from structural biology and detailed functional characterisation of the consequences of genetic diversity. The role of genetic variation in the MHC for a number of specific diseases are reviewed including rheumatoid arthritis, haemochromatosis, type 1 diabetes, coeliac disease, narcolepsy and sarcoidosis with emphasis on progress in defining the functional basis of disease associations, for example modulation of alternative splicing by genetic variation associated with sarcoidosis.Less
The Major Histocompatibility Complex on chromosome 6 encodes a diverse array of genes involved in the immune and inflammatory response. The region is remarkably polymorphic and has been associated with susceptibility to autoimmune and infectious disease. The approaches to defining and understanding the nature and consequences of genetic diversity in the MHC are reviewed in terms of the biology of encoded molecules, evolutionary selective pressures and relationship to disease. Progress in haplotypic analysis of the MHC, resequencing and fine mapping are discussed together with insights from structural biology and detailed functional characterisation of the consequences of genetic diversity. The role of genetic variation in the MHC for a number of specific diseases are reviewed including rheumatoid arthritis, haemochromatosis, type 1 diabetes, coeliac disease, narcolepsy and sarcoidosis with emphasis on progress in defining the functional basis of disease associations, for example modulation of alternative splicing by genetic variation associated with sarcoidosis.
Denis J. Murphy
- Published in print:
- 2007
- Published Online:
- September 2007
- ISBN:
- 9780199207145
- eISBN:
- 9780191708893
- Item type:
- chapter
- Publisher:
- Oxford University Press
- DOI:
- 10.1093/acprof:oso/9780199207145.003.0016
- Subject:
- Biology, Plant Sciences and Forestry
Modern agriculture has created the world we live in today, most notably by enabling farmers to feed a population of over six billion, possibly rising to ten billion by 2050. Key advances have been ...
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Modern agriculture has created the world we live in today, most notably by enabling farmers to feed a population of over six billion, possibly rising to ten billion by 2050. Key advances have been made in the management of crops, the more efficient use of inputs such as minerals and fertilizers, and in the breeding of new high-yield varieties that have enabled food production to be trebled over the past fifty years while the human population has only doubled. By enhancing or creating new genetic variation, scientific breeders have increased cereal yields three- to five-fold since 1965, and new molecular methods of screening and selection promise further yield gains in the future. Meanwhile, advanced DNA technologies may enable us to domesticate some of the thousands of potentially valuable food crops that, due to their recalcitrant genomic organizations, have previously eluded the best efforts of breeders to bring them into useful cultivation.Less
Modern agriculture has created the world we live in today, most notably by enabling farmers to feed a population of over six billion, possibly rising to ten billion by 2050. Key advances have been made in the management of crops, the more efficient use of inputs such as minerals and fertilizers, and in the breeding of new high-yield varieties that have enabled food production to be trebled over the past fifty years while the human population has only doubled. By enhancing or creating new genetic variation, scientific breeders have increased cereal yields three- to five-fold since 1965, and new molecular methods of screening and selection promise further yield gains in the future. Meanwhile, advanced DNA technologies may enable us to domesticate some of the thousands of potentially valuable food crops that, due to their recalcitrant genomic organizations, have previously eluded the best efforts of breeders to bring them into useful cultivation.
David L. Veenstra
- Published in print:
- 2009
- Published Online:
- May 2010
- ISBN:
- 9780195398441
- eISBN:
- 9780199776023
- Item type:
- chapter
- Publisher:
- Oxford University Press
- DOI:
- 10.1093/acprof:oso/9780195398441.003.0027
- Subject:
- Public Health and Epidemiology, Public Health, Epidemiology
A promising area of genomics is the use of information about genetic variation to guide drug therapy, a field known as pharmacogenomics. Pharmacogenomic applications can be broadly categorized into ...
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A promising area of genomics is the use of information about genetic variation to guide drug therapy, a field known as pharmacogenomics. Pharmacogenomic applications can be broadly categorized into (a) those related to variation in drug metabolism and disposition genes, which affect the levels of active drug or metabolites in the body and thus both effectiveness and side effects; and (b) those related to variation in genes for drug targets, which primarily influence the effectiveness of a drug. These categories can be applied to both inherited and acquired variation. This chapter discusses the role of epidemiology in assessing pharmacogenomic associations, as well as approaches utilizing epidemiologic data to quantify the potential benefits and harms of pharmacogenomic tests in clinical use.Less
A promising area of genomics is the use of information about genetic variation to guide drug therapy, a field known as pharmacogenomics. Pharmacogenomic applications can be broadly categorized into (a) those related to variation in drug metabolism and disposition genes, which affect the levels of active drug or metabolites in the body and thus both effectiveness and side effects; and (b) those related to variation in genes for drug targets, which primarily influence the effectiveness of a drug. These categories can be applied to both inherited and acquired variation. This chapter discusses the role of epidemiology in assessing pharmacogenomic associations, as well as approaches utilizing epidemiologic data to quantify the potential benefits and harms of pharmacogenomic tests in clinical use.
Günter P. Wagner
- Published in print:
- 2014
- Published Online:
- October 2017
- ISBN:
- 9780691156460
- eISBN:
- 9781400851461
- Item type:
- chapter
- Publisher:
- Princeton University Press
- DOI:
- 10.23943/princeton/9780691156460.003.0006
- Subject:
- Biology, Evolutionary Biology / Genetics
This chapter examines the developmental mechanisms underlying evolutionary novelties. It first considers the role of the environment in evolutionary innovations, with particular emphasis on how ...
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This chapter examines the developmental mechanisms underlying evolutionary novelties. It first considers the role of the environment in evolutionary innovations, with particular emphasis on how environmental perturbations result in the release of cryptic genetic variation. It then explores where the positional information for novel characters comes from before explaining derived mechanical stimuli and the origin of novelties in the avian hind limb skeleton. It also discusses the origin of character identity networks and the evolution of novel signaling centers, focusing on two novel morphological characters: the butterfly eyespot and the turtle carapace. Finally, it reflects on the developmental biology of novelties, emphasizing the complex and multifaceted nature of the evolutionary changes in the developmental mechanisms that contribute to the origin of novel body parts.Less
This chapter examines the developmental mechanisms underlying evolutionary novelties. It first considers the role of the environment in evolutionary innovations, with particular emphasis on how environmental perturbations result in the release of cryptic genetic variation. It then explores where the positional information for novel characters comes from before explaining derived mechanical stimuli and the origin of novelties in the avian hind limb skeleton. It also discusses the origin of character identity networks and the evolution of novel signaling centers, focusing on two novel morphological characters: the butterfly eyespot and the turtle carapace. Finally, it reflects on the developmental biology of novelties, emphasizing the complex and multifaceted nature of the evolutionary changes in the developmental mechanisms that contribute to the origin of novel body parts.
