Conservation genetics:
Conservation genetics
is an interdisciplinary subfield of Population Genetics that aims to understand
the dynamics of genes in populations principally to avoid extinction.
Therefore, it applies
genetic methods to the conservation and restoration of biodiversity. researchers involved in conservation genetics
come from a variety of fields including population genetics, molecular ecology,
biology, evolutionary biology, and systematics. Genetic diversity is one of the
three fundamental levels of biodiversity,
so it is directly
important in conservation. Genetic variability influences both the health and
long-term survival of populations because decreased genetic diversity has been
associated with reduced fitness, such as high juvenile mortality, diminished
population growth, reduced immunity, and ultimately, higher extinction risk.
Contents
1 Genetic diversity
2 Importance of genetic diversity
3 Contributors to extinction
4 Techniques
5 Applications
6 Implications
Genetic
diversity:
Genetic diversity is
the variability of genes in a species. A number of means can express the level
of genetic diversity: observed heterozygosity, expected heterozygosity, the
mean number of alleles per locus, or the percentage of polymorphic loci.
Importance
of genetic diversity:
Genetic diversity
determines the potential fitness of a population and ultimately its long-term
persistence, because genes encode phenotypic information. Extinction risk has
been associated with low genetic diversity and several researchers have
documented reduced fitness in populations with low genetic diversity. For
example, low heterozigosity has been associated with low juvenile survival,
reduced population growth, low body size, and diminished adult lifespan.
Heterozygosity,
a fundamental measurement of genetic diversity in population genetics, 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 of 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, the probability of mating
with close relatives becomes very high, leading to inbreeding depression - a
reduction in fitness of the 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).
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 allelels 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 can't
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 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 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 (by definition) 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).
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