Conservation genetics is an
interdisciplinary
Interdisciplinarity or interdisciplinary studies involves the combination of multiple academic disciplines into one activity (e.g., a research project). It draws knowledge from several fields such as sociology, anthropology, psychology, economi ...
subfield of
population genetics
Population genetics is a subfield of genetics that deals with genetic differences within and among populations, and is a part of evolutionary biology. Studies in this branch of biology examine such phenomena as Adaptation (biology), adaptation, s ...
that aims to understand the dynamics of
gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...
s in a population for the purpose of
natural resource management, conservation of
genetic diversity
Genetic diversity is the total number of genetic characteristics in the genetic makeup of a species. It ranges widely, from the number of species to differences within species, and can be correlated to the span of survival for a species. It is d ...
, and the prevention of species
extinction
Extinction is the termination of an organism by the death of its Endling, last member. A taxon may become Functional extinction, functionally extinct before the death of its last member if it loses the capacity to Reproduction, reproduce and ...
. Scientists involved in conservation genetics come from a variety of fields including
population genetics
Population genetics is a subfield of genetics that deals with genetic differences within and among populations, and is a part of evolutionary biology. Studies in this branch of biology examine such phenomena as Adaptation (biology), adaptation, s ...
, research in
natural resource management,
molecular ecology,
molecular biology
Molecular biology is a branch of biology that seeks to understand the molecule, molecular basis of biological activity in and between Cell (biology), cells, including biomolecule, biomolecular synthesis, modification, mechanisms, and interactio ...
,
evolutionary biology
Evolutionary biology is the subfield of biology that studies the evolutionary processes such as natural selection, common descent, and speciation that produced the diversity of life on Earth. In the 1930s, the discipline of evolutionary biolo ...
, and
systematics
Systematics is the study of the diversification of living forms, both past and present, and the relationships among living things through time. Relationships are visualized as evolutionary trees (synonyms: phylogenetic trees, phylogenies). Phy ...
. The
genetic diversity
Genetic diversity is the total number of genetic characteristics in the genetic makeup of a species. It ranges widely, from the number of species to differences within species, and can be correlated to the span of survival for a species. It is d ...
within species is one of the three fundamental components of
biodiversity
Biodiversity is the variability of life, life on Earth. It can be measured on various levels. There is for example genetic variability, species diversity, ecosystem diversity and Phylogenetics, phylogenetic diversity. Diversity is not distribut ...
(along with
species diversity and
ecosystem diversity), so it is an important consideration in the wider field of
conservation biology
Conservation biology is the study of the conservation of nature and of Earth's biodiversity with the aim of protecting species, their habitats, and ecosystems from excessive rates of extinction and the erosion of biotic interactions. It is an i ...
.
Genetic diversity
Genetic diversity
Genetic diversity is the total number of genetic characteristics in the genetic makeup of a species. It ranges widely, from the number of species to differences within species, and can be correlated to the span of survival for a species. It is d ...
is the total amount of genetic variability within a species. It can be measured in several ways, including: observed
heterozygosity
Zygosity (the noun, zygote, is from the Greek "yoked," from "yoke") () is the degree to which both copies of a chromosome or gene have the same genetic sequence. In other words, it is the degree of similarity of the alleles in an organism.
Mos ...
, expected heterozygosity, the mean number of
alleles per
locus, the percentage of loci that are
polymorphic, and estimated
effective population size
The effective population size (''N'e'') is the size of an idealised population that would experience the same rate of genetic drift as the real population. Idealised populations are those following simple one- locus models that comply with ass ...
. Genetic diversity on the population level is a crucial focus for conservation genetics as it influences both the health of individuals and the long-term survival of populations: decreased genetic diversity has been associated with reduced average
fitness of individuals, such as high juvenile mortality, reduced immunity,
diminished population growth,
and ultimately, higher extinction risk.
Heterozygosity
Zygosity (the noun, zygote, is from the Greek "yoked," from "yoke") () is the degree to which both copies of a chromosome or gene have the same genetic sequence. In other words, it is the degree of similarity of the alleles in an organism.
Mos ...
, a fundamental measurement of genetic diversity in
population genetics
Population genetics is a subfield of genetics that deals with genetic differences within and among populations, and is a part of evolutionary biology. Studies in this branch of biology examine such phenomena as Adaptation (biology), adaptation, s ...
, plays an important role in determining the chance of a population surviving environmental change, novel pathogens not previously encountered, as well as the average fitness within a population over successive generations. Heterozygosity is also deeply connected, in population genetics theory, to
population size (which itself clearly has a fundamental importance to conservation). All things being equal, small populations will be less heterozygous– across their whole genomes– than comparable, but larger, populations. This lower heterozygosity (i.e. low genetic diversity) renders small populations more susceptible to the challenges mentioned above.
In a small population, over successive generations and without
gene flow
In population genetics, gene flow (also known as migration and allele flow) is the transfer of genetic variation, genetic material from one population to another. If the rate of gene flow is high enough, then two populations will have equivalent ...
, the probability of mating with close relatives becomes very high, leading to
inbreeding depression– a reduction in average fitness of individuals within a population. The reduced fitness of the offspring of closely related individuals is fundamentally tied to the concept of heterozygosity, as the offspring of these kinds of pairings are, by necessity, less heterozygous (more homozygous) across their whole genomes than outbred individuals. A diploid individual with the same maternal and paternal grandfather, for example, will have a much higher chance of being homozygous at any loci inherited from the paternal copies of each of their parents' genomes than would an individual with unrelated maternal and paternal grandfathers (each diploid individual inherits one copy of their genome from their mother and one from their father).
High homozygosity (low heterozygosity) reduces fitness because it exposes the phenotypic effects of recessive alleles at homozygous sites. Selection can favour the maintenance of alleles which reduce the fitness of homozygotes, the textbook example being the sickle-cell beta-globin allele, which is maintained at high frequencies in populations where malaria is endemic due to the highly adaptive heterozygous phenotype (resistance to the malarial parasite ''
Plasmodium falciparum
''Plasmodium falciparum'' is a Unicellular organism, unicellular protozoan parasite of humans and is the deadliest species of ''Plasmodium'' that causes malaria in humans. The parasite is transmitted through the bite of a female ''Anopheles'' mos ...
'').
Low genetic diversity also reduces the opportunities for
chromosomal crossover during
meiosis to create new combinations of alleles on chromosomes, effectively increasing the average length of unrecombined tracts of chromosomes inherited from parents. This in turn reduces the efficacy of selection, across successive generations, to remove fitness-reducing alleles and promote fitness-enhancing alleles from a population. A simple hypothetical example would be two adjacent genes– A and B– on the same chromosome in an individual. If the allele at A promotes fitness "one point", while the allele at B reduces fitness "one point", but the two genes are inherited together, then selection cannot favour the allele at A while penalising the allele at B– the fitness balance is "zero points". Recombination can swap out alternative alleles at A and B, allowing selection to promote the optimal alleles to the optimal frequencies in the population– but only if there are alternative alleles to choose between.
The fundamental connection between genetic diversity and population size in population genetics theory can be clearly seen in the classic population genetics measure of genetic diversity, the
Watterson estimator, in which genetic diversity is measured as a function of
effective population size
The effective population size (''N'e'') is the size of an idealised population that would experience the same rate of genetic drift as the real population. Idealised populations are those following simple one- locus models that comply with ass ...
and
mutation rate. Given the relationship between population size, mutation rate, and genetic diversity, it is clearly important to recognise populations at risk of losing genetic diversity before problems arise as a result of the loss of that genetic diversity. Once lost, genetic diversity can only be restored by
mutation
In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DNA or RNA. Mutations result from errors during DNA or viral replication, ...
and gene flow. If a species is already on the brink of extinction there will likely be no populations to use to restore diversity by gene flow, and any given population will be small and therefore diversity will accumulate in that population by mutation much more slowly than it would in a comparable, but bigger, population (since there are fewer individuals whose genomes are mutating in a smaller population than a bigger population).
Contributors to extinction
Species extinction can be attributed to a multitude of factors.
Inbreeding
Inbreeding is the production of offspring from the mating or breeding of individuals or organisms that are closely genetic distance, related genetically. By analogy, the term is used in human reproduction, but more commonly refers to the genet ...
of closely related individuals has been known to reduce the genetic fitness of a larger population.
Inbreeding depression from reduced fitness has long been theorized to be a link towards extinction. Lethal or non-advantageous allelic combinations increase, with disease susceptibility and lower fertility rates rising in both plant and animal populations. In small, inbreeding populations, an increase in deleterious mutations may also arise, further reducing fitness and allowing for further genetic complications.
Population fragmentation may also contribute toward species extinction. Habitat loss or natural events may cut populations off from one another, resulting in two or more groups having little to no contact with each other. Fragmentation may induce inbreeding in these smaller populations.
When two populations with distinct genetic makeups mate,
outbreeding depression may occur and reduce the fitness of one or both populations. Outbreeding depression and its consequences can be just as detrimental as inbreeding depression. Some conservation efforts focus on the genetic distinctions between populations of the same species. Outbreeding depression could affect the success rate of these conservation efforts.
Techniques
Specific genetic techniques are used to assess the genomes of a species regarding specific conservation issues as well as general population structure.
[Haig] This analysis can be done in two ways, with current DNA of individuals or historic DNA.
Techniques for analyzing the differences between individuals and populations include
#
Alloenzymes
#
Random fragment length polymorphisms
#
Amplified fragment length polymorphisms
#
Random amplification of polymorphic DNA
#
Single strand conformation polymorphism
#
Minisatellites
#
Microsatellites
#
Single-nucleotide polymorphisms
#
DNA sequencing
DNA sequencing is the process of determining the nucleic acid sequence – the order of nucleotides in DNA. It includes any method or technology that is used to determine the order of the four bases: adenine, thymine, cytosine, and guanine. The ...
These different techniques focus on different variable areas of the genomes within animals and plants. The specific information that is required determines which techniques are used and which parts of the genome are analysed. For example,
mitochondrial DNA
Mitochondrial DNA (mtDNA and mDNA) is the DNA located in the mitochondrion, mitochondria organelles in a eukaryotic cell that converts chemical energy from food into adenosine triphosphate (ATP). Mitochondrial DNA is a small portion of the D ...
in animals has a high substitution rate, which makes it useful for identifying differences between individuals. However, it is only inherited in the female line, and the mitochondrial genome is relatively small. In plants, the mitochondrial DNA has very high rates of structural mutations, so is rarely used for genetic markers, as the
chloroplast genome can be used instead. Other sites in the genome that are subject to high mutation rates such as the
major histocompatibility complex
The major histocompatibility complex (MHC) is a large Locus (genetics), locus on vertebrate DNA containing a set of closely linked polymorphic genes that code for Cell (biology), cell surface proteins essential for the adaptive immune system. The ...
, and the
microsatellites and
minisatellites are also frequently used.
These techniques can provide information on long-term conservation of genetic diversity and expound demographic and ecological matters such as taxonomy.
[
Another technique is using historic DNA for genetic analysis. Historic DNA is important because it allows geneticists to understand how species reacted to changes to conditions in the past. This is a key to understanding the reactions of similar species in the future.][
Techniques using historic DNA include looking at preserved remains found in museums and caves.][Robert, pp. 89–97] Museums are used because there is a wide range of species that are available to scientists all over the world. The problem with museums is that, historical perspectives are important because understanding how species reacted to changes in conditions in the past is a key to understanding reactions of similar species in the future. Evidence found in caves provides a longer perspective and does not disturb the animals.
Another technique that relies on specific genetics of an individual is noninvasive monitoring, which uses extracted DNA from organic material that an individual leaves behind, such as a feather. Environmental DNA (eDNA) can be extracted from soil, water, and air. Organisms deposit tissue cells into the environment and the degradation of these cells results in DNA being released into the environment.This too avoids disrupting the animals and can provide information about the sex, movement, kinship and diet of an individual.
Other more general techniques can be used to correct genetic factors that lead to extinction and risk of extinction. For example, when minimizing inbreeding and increasing genetic variation multiple steps can be taken. Increasing heterozygosity
Zygosity (the noun, zygote, is from the Greek "yoked," from "yoke") () is the degree to which both copies of a chromosome or gene have the same genetic sequence. In other words, it is the degree of similarity of the alleles in an organism.
Mos ...
through immigration, increasing the generational interval through cryopreservation or breeding from older animals, and increasing the effective population size
The effective population size (''N'e'') is the size of an idealised population that would experience the same rate of genetic drift as the real population. Idealised populations are those following simple one- locus models that comply with ass ...
through equalization of family size all helps minimize inbreeding and its effects. Deleterious alleles arise through mutation, however certain recessive ones can become more prevalent due to inbreeding. Deleterious mutations that arise from inbreeding can be removed by purging, or natural selection. Populations raised in captivity with the intent of being reintroduced in the wild suffer from adaptations to captivity.
Inbreeding depression, loss of genetic diversity, and genetic adaptation to captivity are disadvantageous in the wild, and many of these issues can be dealt with through the aforementioned techniques aimed at increasing heterozygosity. In addition creating a captive environment that closely resembles the wild and fragmenting the populations so there is less response to selection also help reduce adaptation to captivity.
Solutions to minimize the factors that lead to extinction and risk of extinction often overlap because the factors themselves overlap. For example, deleterious mutations are added to populations through mutation, however the deleterious mutations conservation biologists are concerned with are ones that are brought about by inbreeding, because those are the ones that can be taken care of by reducing inbreeding. Here the techniques to reduce inbreeding also help decrease the accumulation of deleterious mutations.
Applications
These techniques have wide-ranging applications. One example is in defining species and subspecies of salmonids.[ Hybridization is an especially important issue in salmonids and this has wide-ranging conservation, political, social and economic implications.
More specific example, the Cutthroat Trout. In ]analysis
Analysis (: analyses) is the process of breaking a complex topic or substance into smaller parts in order to gain a better understanding of it. The technique has been applied in the study of mathematics and logic since before Aristotle (38 ...
of its mtDNA and alloenzymes, hybridization between native and non-native species has been shown to be one of the major factors contributing to the decline in its populations. This has led to efforts to remove some hybridized populations so native populations could breed more readily. Cases like these impact everything from the economy of local fishermen to larger companies, such as timber.
Defining species and subspecies has conservation implication in mammals, too. For example, the northern white rhino and southern white rhino were previously mistakenly identified as the same species given their morphological similarities, but recent mtDNA analyses showed that the species are genetically distinct. As a result, the northern white rhino population has dwindled to near-extinction due to poaching crisis, and the prior assumption that it could freely breed with the southern population is revealed to be a misguided approach in conservation efforts.
More recent applications include using forensic genetic identification to identify species in cases of poaching
Poaching is the illegal hunting or capturing of wild animals, usually associated with land use rights.
Poaching was once performed by impoverished peasants for subsistence purposes and to supplement meager diets. It was set against the huntin ...
. Wildlife DNA registers are used to regulate trade of protected species, species laundering, and poaching. Conservation genetics techniques can be used alongside a variety of scientific disciplines. For example, landscape genetics has been used in conjunction with conservation genetics to identify corridors and population dispersal barriers to give insight into conservation management.
Implications
New technology in conservation genetics has many implications for the future of conservation biology. At the molecular level, new technologies are advancing. Some of these techniques include the analysis of minisatellites and MHC.[ These molecular techniques have wider effects from clarifying taxonomic relationships, as in the previous example, to determining the best individuals to reintroduce to a population for recovery by determining kinship. These effects then have consequences that reach even further. Conservation of species has implications for humans in the economic, social, and political realms.][ In the biological realm increased genotypic diversity has been shown to help ecosystem recovery, as seen in a community of grasses which was able to resist disturbance to grazing geese through greater genotypic diversity.] Because species diversity increases ecosystem function, increasing biodiversity through new conservation genetic techniques has wider reaching effects than before.
A short list of studies a conservation geneticist may research include:
# Phylogenetic
In biology, phylogenetics () is the study of the evolutionary history of life using observable characteristics of organisms (or genes), which is known as phylogenetic inference. It infers the relationship among organisms based on empirical dat ...
classification of species, subspecies, geographic races, and populations, and measures of phylogenetic diversity and uniqueness.
# Identifying hybrid species, hybridization in natural populations, and assessing the history and extent of introgression between species.
# Population genetic structure of natural and managed populations, including identification of Evolutionary Significant Units (ESUs) and management units for conservation.
# Assessing genetic variation within a species or population, including small or endangered
An endangered species is a species that is very likely to become extinct in the near future, either worldwide or in a particular political jurisdiction. Endangered species may be at risk due to factors such as habitat loss, poaching, inv ...
populations, and estimates such as effective population size (Ne).
# Measuring the impact of inbreeding
Inbreeding is the production of offspring from the mating or breeding of individuals or organisms that are closely genetic distance, related genetically. By analogy, the term is used in human reproduction, but more commonly refers to the genet ...
and outbreeding depression, and the relationship between heterozygosity and measures of fitness (see Fisher's fundamental theorem of natural selection).
# Evidence of disrupted mate choice
Mate choice is one of the primary mechanisms under which evolution can occur. It is characterized by a "selective response by animals to particular stimuli" which can be observed as behavior.Bateson, Paul Patrick Gordon. "Mate Choice." Mate Choi ...
and reproductive strategy in disturbed populations.
# Forensic applications, especially for the control of trade in endangered species.
# Practical methods for monitoring and maximizing genetic diversity during captive breeding programs and re-introduction schemes, including mathematical models and case studies.
# Conservation issues related to the introduction of genetically modified organisms.
# The interaction between environmental contaminants and the biology and health of an organism, including changes in mutation rates and adaptation
In biology, adaptation has three related meanings. Firstly, it is the dynamic evolutionary process of natural selection that fits organisms to their environment, enhancing their evolutionary fitness. Secondly, it is a state reached by the p ...
to local changes in the environment (e.g. industrial melanism
Industrial melanism is an evolutionary effect prominent in several arthropods, where dark pigmentation (melanism) has evolved in an environment affected by industrial pollution, including Sulfur dioxide, sulphur dioxide gas and dark soot deposit ...
).
#New techniques for noninvasive genotyping, see noninvasive genotyping for conservation.
#Monitor genetic variability in populations and assess gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...
s of fitness amongst organism populations.
See also
* Animal genetic resources
* Forest genetic resources
* '' The State of the World's Animal Genetic Resources for Food and Agriculture''
Notes
References
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External links
What is Conservation Genetics?
Science
Genetics
Blackwell - synergy
PNAS
{{Extinction
Conservation biology
Applied genetics
Population genetics
Rare breed conservation