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Genetics History
Genetics History
In a seminal paper, Frankel (1974: 54) defined an evolutionary ethic that should
underly efforts to conserve natural populations and systems:
“In this context, genetics has social responsibilities in two directions: first, to
collaborate in planning the biological system of conservation so as to establish
the highest possible evolutionary potential; second, to help in establishing an
evolutionary ethic, as pat of our social ethics, which will make it acceptable
and indeed inevitable for civilized man to regard the continuing existence of
other species as an integral part of his own existence. This demands
continuing evolution.”
Continued evolution cannot occur without attention to maintaining the viability of
populations and the integrity of natural environments. In this context, Frankel’s
sentiments can be reworded as the following general goal for conservation:
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We have written this book to put flesh on this skeletal goal. Specifically, we seek to
explore how an understanding of evolutionary principles, together with the tools and
concepts of modern genetics, can promote effective conservation In this introductory
chapter, we provide a context for the remainder of the book by reviewing briefly the
history of conservation genetics and its current and potential scope and considering
the implications of evolutionary thinking for management of threatened systems.
From the development of the theory of evolution (Darwin 1859, Wallace 1858) and
its reconciliation with mechanisms of inheritance followed the “neoDarwinian
synthesis”, a rapid development of population and quantitative genetics (Fisher 1930,
Wright 1931, Haldane 1932, Falconer 1960) directed in part at increasing the
efficiency of genetic improvement of domesticated species. Another important
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corollary of these activities was that the gene became recognized as a fundamental
level of biological organization and diversity (see Chapter 8).
Through the following decades, the economic value of genetic variety, or "genetic
resources" was identified and the issue of preserving genetic diversity of domesticates
came to the fore (Frankel & Soule 1981). This was accorded such importance that
international institutions were established to maintain germ plasm from different
varieties of agriculturally significant crop species and, to a lesser extent, domesticated
animals. The impact of human activities on natural reservoirs of genetic diversity
(Brown 1992), including issues arising from newly developed transgenic strains (see
Chapter 12), remains a major concern. With the increased appreciation of the potential
value of genetic variation in natural populations, have come assertions of sovereign
ownership of genetic resources, an issue that was prominent in negotiating the 1992
Convention on Biological Diversity and to which we return in Chapter 8.
From the experience of agricultural genetics and the parallel development of theory
came two important observations. The first was that the capacity of populations to
evolve in response to selection can be limited by lack of genetic diversity (Chapter 9).
The second was that genetic processes in small populations can reduce reproduction
and survival, including resistance to disease (Chapters 9-10). An important step from
there was to acknowledge that human activities affect evolutionary processes in
natural populations as well as domesticates (Berry 1968; Frankel 1971,1974).
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tools of quantitative genetics are increasingly relevant and accessible (Lynch 1996;
Frankham 1999a), particularly for monitoring fitness-related traits (Chapter 3).
Both agricultural genetics and wildlife management, combined with studies of genetic
(allozyme) and phenotypic variation in natural populations, therefore contributed to
the focus on conserving genetic diversity as a primary goal of conservation genetics.
But the allozyme analyses were also a fore-runner of the use of genetic markers to
investigate population processes, such as paternity, mating system, population
structure and gene flow, in threatened species subject to management. This field of
"Molecular Ecology" developed rapidly in the 1990s as direct methods for detection
and statistical analysis of variation in DNA were refined (Hillis et al. 1996; Goldstein
and Schlotterer 1999; Nei and Kumar 2000, and see Chapter 2). Contributions of
Molecular Ecology to practical conservation are now diverse and have broadened both
the scope and relevance of Conservation Genetics. The refinements of methods for
DNA analysis have also contributed to estimations of relationships among
populations and species and approximate times of divergence among these;
information that is finding increasing use in prioritizing taxa or areas for conservation
effort (see Chapter 8).
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Scope of Conservation Genetics
Conservation actions and the research necessary to support these should be targeted
at multiple levels, including landscapes, ecosystems species and populations (Noss
1990). Conservation genetics focuses naturally at the population and species levels of
organization, although applications to area/habitat-based management are becoming
more prominent (Figure 1.1; Box 1.1). This focus makes sense in that species and
populations are fundamental units in both ecology and evolution, making their
management an essential contribution to conservation, but does not deny the fact that
management of both habitats and populations is necessary to achieve a positive
conservation outcome.
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The linkage between genetic and ecological approaches to management of populations
is illustrated nicely by recent observations on recovery of the greater prairie chicken
(Tympanuchus cupido pinnatus) in south-eastern Illinois (Figure 1.3; Westemeier et al.
1998). Declines in population size and productivity were observed over 35 years due
to loss and fragmentation of habitats. Ecological management to restore the quality of
critical grassland habitats led to a transient recovery in the early 1970s, but egg hatch
rates and population size continued to decline until the loss of genetic diversity due to
small population size and isolation was reversed by augmentation from large
populations in the 1990s. In this case, both ecological and genetic issues needed to be
addressed to achieve population recovery. Similarly, recent successes in management
of the imperiled florida panther (Felis concolor) have required attention to both
habitat protection and amelioration of inbreeding depression (see Chapter 11).
These and other examples reviewed in the following chapters reinforce our view that
conservation genetics should not be seen as a distraction from the important issues in
management, or even as something relevant only to the death rattle of small
populations (Lande 1988; Caughley 1994; Caro and Laurenson 1994) but, rather, as a
set of concepts and tools that should be brought to bear if and when appropriate. A
major purpose of this book is to provide managers and practitioners with the
background to decide when this is so.
The supposed separation of genetics and ecology in conservation also ignores the
contribution that molecular genetic techniques can make to assessing the demography
of threatened populations. The increasing use of the concepts and tools of Molecular
Ecology in the study and management of endangered species (see below) have
broadened the scope of Conservation Genetics such that the distinction between
genetics and ecology is illusory. We therefore agree with Soule and Mills (1992) that,
rather than wasting time and effort arguing about whether genetics is more important
than ecology, we should get on with the job of conserving and restoring populations
and habitats, using tools and concepts from genetics where appropriate.
From the above, it should be clear that we regard Conservation Genetics as having two
major and complementary foci - the traditional domain of conserving genetic diversity,
and the more recent development and application of Molecular Ecology (Moritz
1994a). The first area; “Genetic Conservation” has, as its central concerns:
1. Description of the amount and distribution of genetic diversity within
species and evolutionary diversity among species;
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2. Retention of variation within and among populations in order to maintain
current fitness and long-term evolutionary potential; and
3. Avoidance of increases in inbreeding levels, especially in normally outbred
species.
4. Development of methods to monitor effectiveness of management in
relation to 1-3 above
The rationale for these activities was described by Franklin (1980) and Frankel and
Soule (1981) and the pertinent evidence is reviewed in Chapters 8 to 10. Of particular
importance is the development of efficient methods for monitoring genetic diversity
and processes – without this, the need for, and effectiveness of management cannot be
assessed. Yet, monitoring has been a weak link in the science of conservation genetics.
In relation to genetic diversity, there has been justifiable criticism of the focus on
“neutral” molecular variation when it is variation at the genes that underlie fitness that
is crucial (Hedrick 1996; Lynch 1996; see Chapter 3). Throughout this book we will
seek to identify ways in which relevant genetic diversity can be monitored via either
direct measures, sometimes derived from new approaches in quantitative genetics or
genomics, or surrogates. Monitoring of population parameters relevant to genetic
processes, especially population size, migration, individual fitness and mate choice,
benefits directly from the development of Molecular Ecology (Chapters 4-7).
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3. Identification of reproductively discrete populations (= Management Units,
Moritz 1994b) or, for continuously distributed populations, the geographic
scale over which exchange of individuals is trivial;
4. Estimation of rates of gene flow and detection of changes in migration patterns
or metapopulation structure in modified landscapes; and
5. Detection of hybridization, e.g., between introduced species and remnant
populations.
As discussed in Chapters 4-7, several of these applications (notably 3-5) often rest on
assumptions that may not be satisfied for fluctuating populations, as is the case for
most threatened species, so that the inferences from genetics are best compared to
those from ecology.
In some respects the distinction between these two domains of Conservation Genetics
is blurred. For example, the molecular ecology approach may be used to estimate the
incidence of inbreeding or migration, both processes central to maintaining genetic
diversity. Conversely, changes in levels of inbreeding, essentially a genetic process,
may well affect the demographic parameters being estimated.
Nonetheless, we feel that the distinction is a useful one as the conservation goals and
time-scales of concern are distinct, and in some respects, so are the techniques and
sampling design (Moritz 1994a). Conservation of genetic diversity is primarily a
long-term concern, although in some cases increased inbreeding or loss of genetic
diversity may have an impact on short-term population viability. By contrast, the
Molecular Ecology applications tend to be more focused on immediate ecological and
demographic issues that are likely to be considered important whether or not the
genetic and evolutionary issues are acknowledged.
It is an inescapable fact that the human species has caused long running and profound
modifications to species diversity, the landscape, and environmental conditions
(Figure 1.4) and may have done so for a long time (P.S. Martin 1973; Roberts et al.
2001). What is only now becoming appreciate is the extent to which human activities
may be redirecting evolution (Myers and Knoll 2001). While the details are
speculative (Figure 1.5), it is clear that evolution has not stopped; rather its rate and
trajectory has been modified. Of particular concern are predictions that speciation of
large vertebrates has ceased, that commensal species will dominate future radiations,
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and that a drop in net speciation rate (speciation minus extinction) combined with
reduced immigration means that already alarming predictions of species loss are
underestimates (Rosenzweig 2001). In this context, Frankel’s (1974) urging that we
recognize and act on our responsibility as stewards of the evolutionary process
becomes all the more relevant and urgent. This means coming to terms with
conservation in a changing world (Balmford et al. 1998) and giving more attention to
processes.
Given that humans are part of the environment and exercise profound influence on
that environment, there is a fundamental decision that must be made in conservation
efforts. This is whether we should either:
A) try to retain all taxa and phenotypic variants and restore ecosystems to
unmodified conditions; or
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This shift of emphasis from the products of evolution to the processes that sustain
diversity has direct implications for planning and management. At the level of broad
scale planning for biodiversity conservation (Chapter 8), landscape elements thought
to be significant for diversification and evolutionary or ecological processes need to be
included in algorithms for prioritizing areas (Moritz 2001; Cowling & Pressey 2001).
When prioritizing species or populations for protection or management, consideration
needs to be given to their level of phylogenetic distinctiveness (Vane-Wright et al.
1991) and whether the variation that they represent is likely to be recoverable through
evolution (Chapter 8). For management of threatened species, an evolutionary
approach can expand options, for example, in relation to augmentation or
translocations of populations (Moritz 1999; Chapter 11).
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the genetic research and monitoring (Sherwin & Moritz 2000). This ensures that the
genetics is integrated into parallel ecological studies and that genotype or environment
specific effects of genetic processes are appropriately measured. It also helps to
establish mutual understanding between conservation managers and geneticists,
allowing the former to appreciate the strengths and limitations of genetics and, the
latter, the practical issues that need to be addressed (Moritz et al. 1994).
Summary
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complements, rather than replaces, traditional approaches in systematics and
ecology, and is fully integrated into recovery planning.
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Tables and figures
Figure 1.4 - a) rates of physical changes - temp or atmospheric CO2; b) rates of biotic
change – introductions of fish to USA nico & Fuller 1999; c) global biodiversity
hotspots Myers et al. 2000, Cincotta et al.; d) projections – Sala et al. 2000
Figure 1.5 – changes in evolutionary processes – from Myers & Knoll 2001
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Table 1.1. Ten intersecting questions from ecologists and geneticists compared
Ecologists
Local issues:
• Is the population increasing or decreasing?
• If decreasing, what cause(s) can be identified and what aspect of the life cycle has
the strongest effect on changes in population size?
• Does the species depend on specific habitat types or interactions with other
species that have been disrupted by human activities?
• What management activities have the best chance of restoring population
viability?
Regional issues:
• Has connectivity among populations been reduced such that metapopulation
viability is threatened?
• What proportion of the species range is threatened to otherwise impacted by
human activities?
Geneticists
Local issues:
• Has the population sufficient genetic diversity to respond to selection?
• Is there evidence for inbreeding depression?
• Has there been a recent decrease in genetic diversity or increase in inbreeding
attributable to human activity?
• Is the population accumulating disadvantageous mutations because of reduced
population size or increased isolation?
• Has the genetic makeup of the population been changed by hybridization with
introduced species or populations?
Regional issues:
• Has gene flow among populations been changed (typically, decreased) by human
activities?
• Have genetically divergent populations been lost across the species’ range?
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Box 1.1 Comparison of parameters relating to process and pattern and of concern to
managers, ecologists and geneticists
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Figure 1.1 Schematic history of Conservation Genetics- contributing disciplines
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Figure 1.2 Extinction vortex- interaction of genetic and demographic processes (from
Gilpin and Soule 1986)
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Figure 1.3 Complimentary habitat and genetic management in prairie chickens (from
Westemeier et al. 1998)
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Figure 1.5 Possible changes to the direction and rate of evolution wrought by human
impacts of the environment. Drawn from Myers and Knoll (2001) and Woodruff
(2001).
The mass extinction: Increased extinction rate with loss of 1/3 to 2/3 of
extant species (Wilson 2000) and even greater impact on distinct
populations (Hughes et al. 1997)
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