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Genetica in conservarea

biodiversitatii
Importanta geneticii recunoscuta din anii 70
- Sir Otto Frankel colab cu Soule parintele biologiei
conservarii

Ce este genetica conservarii?


Componenta a biologiei conservarii care trateaza
factorii genetici care influenteaza riscul extinctiei
si managementul genetic necesar minimalizarii
riscului.
In biologia conservarii exista 11 probleme majore
care comporta componente genetice:
1. Efectul depresiv al consangvinizarii
2. Pierderea diversitatii genetice si a abilitatii de a
evolua ca raspuns la midificarile survenite in
mediu

3. Fragmentarea populatiilor si reducerea fluxului genic


4. Procesele randomice care surclaseaza selectia
naturala ca si proses evolutiv primar
5. Acumularea mutatiilor detrimentale
6. Adaptarea genetica la captivitate si efectul sau
advers in succesul reintroducerii speciilor in habitatele
lor naturale
7. Rezolvarea incertitudinilor taxonomice

8. Definirea unitatilor de management in cadrul


speciilor
9. Utilizarea geneticii moleculare in criminalistica
10. Utilizarea geneticii moleculare in intelegerea
aspectelor de biologie a speciilor, importante din punct
de vedere conservativ

11. Efectul detrimental generat de hibridare

Modul de aciune al geneticii


conservrii pentru minimalizarea
extinciei

Diversitatea genetica
Este indispensabila populatiilor pentru a se putea
adapta.
Populatiile mari ale speciilor panmictice diversitate
genetica mare
Diversitate redusa la sp. periclitate

Importanta diversitatii genetice


Div. gen este materia prima pentru selectia naturala
Pierderea diversitatii genetice reduce poetntialul
evolutiv si este astfel asociata cu reducerea fitnesului
reproductiv

Ce este diversitatea genetica ?


Este varietatea de alele si genotipuri prezente intr-o
grupare de indivizi (pop. sp. sau grupuri de specii)

Terminologia utilizata pentru a


descrie diversitatea genetica

Locus (plural loci)


Alele
Genotip
Genom
Homozigot
Heterozigot
Frecventa alelica
Polimorfic (cea mai frecv. alela 0,95)
Monomorfic

Proportia locilor polimorfici (P) Nr locilor polimorfici / nr


total de loci testati.
Ex.
Daca 3 din 10 loci testati sunt polimorfici si 7 sunt
monomorfici,
P = 3/10 = 0.3

Diversitatea alelica
Este folosita pentru a descrie diversitatea
genetica.
De ex.
Doua alele la un locus determina
diferente in proteinele albuminei din ou
la eider si trei alele la o sp. de cinteza
(ex. 2.2).
Daca se analizeaza mai multi loci,
diversitatea alelica (A) este numarul
mediu al alelelor la nivelul acestor loci
(Tab 2.1).
Ex leii africani au in total 33 de alele
In 26 loci alozimici deci A = 33/26 =
1.27.

Echilibrul HardyWeinberg
In populatiile panmictice mari, frecventele genice si genotipice la
un locus autozomal sunt in echilibru asu ating echilibrul dupa o
generatie de imperechere panmictica (in absenta factorilor
modificatori).

Conditii pentru atingerea echilibrului H-W

Dimensiune mare a populatiei


populatie izolata (fara migratie)
absenta mutatiei
segregare mendeliana normala
Fertilitate egala a genotipurilor parentale
Cuplare randomica a gametilor
Capacitate de fertilizare egala a gametilor
Capacitate de supravietuire echivalenta a
tuturor genotipurilor

Deviatii de la echilibrul HardyWeinberg


Heterozigotia asteptata

Pentru evaluarea potentialului evolutiv al speciei este necesar sa se estimeze


diversitatea genetica la nivelul tuturor locilor in genom.
Informatia furnizata de catre un singur locus este improbabil sa poata estima
diversitatea de la nivelul tuturor locilor unei specii.
De exemplu mamiferele au aprox. 35 000 loci functionali.
In consecinta, valorile diversitatii genetice (Ho, He) sunt exprimate ca si valori
medii ale unei probe selectate randomic, constand intr-un anumit numar de loci.
De exemplu, heterozigotia medie detectata prin electroforeza proteica in 26 de
loci la leii africani este de 7.1%,

Estimarea frecventei unei alele recesive


Homozigotii recesivi (aa) sunt diferiti fenotipic si au o frecventa
asteptata de q2 la un locus in cazul in care sunt respectate
conditiile pentru atingerea echilibrului HardyWeinberg

Gradul de diversitate genetica


Populatiile mari ale speciilor panmictice contin o diversitate
genetica importanata :
morfologica,
comportamentala
fiziologica
variatie ne-genetica, datorata influentelor mediului asupra
indivizilor
variatie genetica
Datorata diferentelor de structura genetica (alele, heterozigotie, etc)

Variatii cantitative
Cele mai importante caractere
in conservare sunt cele
cantitative

Teoretic, toate caracterele


cantitative ale speciilor
panmictice se caracterizeaza
prin diversitate genetica.

Caractere care determina gradul de


sanatate si fitnesul reproductiv al unui
organism:
nr de descendenti,
nr de seminte la plante,
capacitatea de imperechere,
longevitatea,
rata de crestere,
comportamentele de evitare a
pradatorilor,
greutate corporala,
inaltime ,
forta,

Diversitatea genetica pentru


un caracter cantitativ este de
obicei determinata prin
masurarea similaritatilor in
caracterul respectiv la un
numar mare de indivizi
inruditi si determinarea
proportiei variatiilor
fenotipice care sunt ereditare
(eritabilitate).

Alele detrimentale

Toate populatiile panmictice contin o


incarcatura de alele detrimentale rare
(balastul de gene) care pot fi exprimate
prin consangvinizare
Important pentru genetica conservarii!

In mod obisnuit, acestea au frecvente foarte mici these


sub 1%.
Ex. Sindroame la om,
fenilcetonuria, albinismul, maladia Huntington
Absenta clorofilei la plante
Surditatea la condorii californieni,
Malabsorbtia vitaminei E la caii lui Przewalski,
Criptorhidia si defecte cardiace congenitale la
panterele de Florida,
Absenta testiculelor la koala
Absenta blanii la lemurii rosii

Diversitatea genetica
Proteine
Primele masuratori de diversitate
genetica la nivel molecular au fost
realizate in 1966 prin studiul
variatiilor alelice la nivelul unor loci
responsabili de sinteza unor proteine
solubile
Tehnica o varianta a electroforezei
care separa moleculele dupa
incarcatura lor electrica si masa
moleculara

Se pot analiza probe de


sange, ficat sau rinichi la animale,
frunze si radacini la plante

ADN
Recoltarea probelor de ADN pentru masurarea diversitatii
genetice
Orice material biologic care contine ADN poate fi utilizat pentru masurarea
diversitatii genetice cu ajutorul tehnicilor moleculare
probe proaspete: par, piele, penaj, materii fecale, urina, coaja de oua,
solzi, tesuturi, saliva, lichid seminal.
material conservat tegument si tesuturi ale unor piese muzeale
Conditie proba trebuie sa contina si ADN nedegradat care sa nu fie
contaminat cu ADN al altor indivizi sau al unor specii inrudite.

Amplificarea ADN prin PCR

Genotiparea indivizilor poate fi


realizata prin metode non-invazive
colectand o cant mica de ADN care
apoi va fi amplificata prin PCR

Permite amplificarea in
laborator a unor secvente de
ADN specifice din probe mici

Diversitatea de la nivelul microastelitilor


este detectata prin amplificarea ADN
prin PCR.
Primerii care flancheaza microsatelitii
sunt utilizati pentru a specifica regiunea
ADN care urmeaza a fi amplificata

Fragmentele de ADN sunt separate in


functie de dimensiunea lor prin
electroforeza in gel de agar sau acrilamida.
Dupa separare fragmentele sunt detectate
prin:
(1) Colorarea gelului cu bromura de etidiu
(colorarea ADN),
(2) Folosirea primerilor marcati radioactiv
si autoradiografia gelurilor
(3) Folosirea primerilor marcati fluorescent
si secventarea produsilor de amplificare
Daca un individ este heterozigot pentru
doua alele microsatelitare cu numar
diferit de secvente repetitive atunci vor
fi identificate doua benzi de dimensiuni
diferite.
Microsatelitii masoara in mod obisnuit
variatia genetica la loci neutrali (nesupusi
selectie naturale) in conditiile in care
secventele repetitive sunt amplasate de
obicei in segmente neninformationale ale
ADN.

Amprentarea ADN releva o


variabilitate foarte mare, la un numar
mare de loci, fara a necesita
informatii anterioare despre ADNul
speciilor investigate.
Dezavantajul consta in
imposibilitatea de identificare a
locilor individuali, avand in vedere
faptul ca fragmentele deriva din
numeroase locuri din genom. Este o
metoda invaziva, deoarece necesita
cantitati mari de ADN
Inlocuita de alte metode noninvasive in care prelevarea ADN este
urmata de PCR, cum sunt
microsatelitii, AFLP sau RAPD.

ADN Mitocondrial (mtDNA)


Molecule mici de ADN circular mostenite maternal la majoritatea speciilor
folosit pe scara larga la identificarea relatiilor taxonomice si a diferentelor dintre
populatiile unei specii
mtDNA este relativ abundent (nr mare de mitocondrii in celula) si usor de
purificat.
Diversitatea genetica a ADN mt poate fi detectata printr-o gama larga de metode
incluzand fragmentarea utilizand enzime de restrictie (RFLP), SSCP si
secventare.
Primerii ADN care functioneaza la majoritatea speciilor sunt deja stabiliti si
accesibili pentru un numar mare de gene ale ADNmt.
Acesti loci pot fi amplificati prin PCR iar produsul secventat .
Secventarea ADNmt are avantaje : sampling non-invaziv, ADNmt are o rata
mutationala mare si ca urmare are o variabilitate crescuta si poate fi folosit
pentru a identifica liniile femele ale descendentilor sau modelele de migratie.
Dezavantaje identifica o singura unitate mostenita maternal

Similar- ADN plastidic

Mai putina diversitate genetica in ADN

Diversitate mare
imperechere panmictica

primul studiu pentru locusul


alcool dehidrogenazei (Adh) locus
la drosofile.

The highest levels of genetic diversity in DNA are typically found in DNA
sequences with little functional significance.
These variants either do not code for functional products, or substitutions do not
change the function of the molecule, i.e. they are not expressed phenotypically.
Therefore, selection does not act against such changes.
Conversely, the lowest genetic diversity is found for functionally important
regions of molecules, such as the active sites of enzymes. Much of the DNA
in an organism does not code for functional products.

two important exceptions!


1. the major histocompatibility complex (MHC -- a
large family of genes that play a central role in the
vertebrate immune system and in fighting disease)
2.

self-incompatibility (SI) loci in plants.

Both regions have extremely high levels of genetic


diversity due to natural selection that favors differences
among individuals within populations.

Microsatellites provide one of


the most powerful and practical
means currently available for
surveying genetic diversity in
threatened species
They typically show very
high levels of
polymorphism and many
alleles per locus.
For example, CA repeats
are common and often vary
in repeat number within a
population.

Low genetic diversity in threatened species


The abundant genetic diversity found in
large populations contrasts with that
found in many small or bottlenecked
populations.
For example, the northern elephant seal
has been hunted almost to extinction,
but has subsequently recovered from its
population size bottleneck.

This species exhibits no allozyme


variation and possesses substantially
reduced levels of microsatellite
variation in comparison to related
non-bottlenecked species.

Mirounga angustirostris

Lasiorhinus krefftii

Potorous longipes

Onychogalea fraenata

Swietenia mahagoni
Canis simensis

What components of genetic diversity determine


the ability to evolve?
Evolutionary potential is most directly measured by estimating the
quantitative genetic variation for reproductive fitness.
Reproductive fitness is the number of fertile offspring contributed
to the next generation by an individual and encompasses survival
to sexual maturity, and the ability to mate and raise offspring.
the most difficult to measure
the aspect of genetic diversity for which we have least
information in threatened species.
Other measures such as DNA and allozymes only reflect evolutionary
potential if they are correlated with quantitative genetic variation.
Disturbingly, correlations between molecular and quantitative
measures of genetic diversity are often low.

Evolutionary genetics
of natural populations

Populations evolve through the


actions of mutation, migration,
selection and chance.
Genetic diversity arises from
mutation, or is added by
immigration, and is removed by
selection, or lost by
sampling in small populations.
The balance between mutation
and selection results in a load of
rare deleterious alleles

Factors controlling the evolution


of populations

Our objective in conservation genetics is to preserve species as


dynamic entities, capable of evolving to adapt with environmental
changes. It is therefore essential to understand the natural forces
determining evolutionary change.

we must appreciate how genetic diversity arises, what


forms of genetic diversity exist and how it is lost

At its simplest level, evolution involves any change in the frequency


of an allele due to mutation, migration (gene flow), selection
or chance.

mutation is the source of all genetic diversity, but is a weak


evolutionary force over the short term, as mutation rates are
generally very low
migration (gene flow) reduces differences among populations
generated by mutation, selection and chance
selection is the only force causing evolutionary changes that better
adapt populations to their environment
chance effects in small populations lead to loss of genetic diversity
fragmentation and reduced migration limiting gene flow generate
random differentiation among subpopulations derived from the
same original source population.

Factors causing evolution

Origin and regeneration of genetic diversity


Mutation

A mutation is a sudden genetic change in an allele or


chromosome. All genetic diversity originates from mutation.
In conservation genetics, we are concerned with:
How rapidly does the process of mutation add genetic diversity to
populations?
How do mutations affect the adaptive potential and reproductive
fitness of populations?
How important is the accumulation of deleterious mutations to
fitness decline in small populations?
The most important mutations are those at loci affecting fitness
traits, most notably lethal or deleterious mutations

As mutation rates are very low,


mutation is a very weak
evolutionary force and can be
ignored in the short term for
many circumstances

When genetic diversity is lost from an entire


species, it is only regenerated by mutation. As
mutation rates are low, regeneration times are
very long, typically taking thousands to millions
of generations for single locus variation

Migration and gene flow

The introduction of immigrants


from one population into another
reduces genetic differentiation
among populations and may restore
lost genetic diversity

m - the migration rate,


qm - the allele frequency in immigrants
qo - the frequency in the original population.

Many endangered species are


threatened by gene flow
(introgression)
from related non-endangered
species.

Selection and adaptation


Species evolve in response to
environmental change. Adaptive
evolutionary changes occur
through the impact of selection
on genetic variation, increasing
the frequency of beneficial
alleles

evolutionary changes in animals:


morphology, behaviour, colour
form, host plant resistance, prey
size, body size, alcohol tolerance,
reproductive rate, survival, disease
resistance, predator avoidance,
tolerance to pollutants, biocide
resistance, etc.

climates fluctuate over time,


sea levels make and break
connections between landmasses,
ice caps advance and retreat.
pests, parasites and diseases evolve
new strains, switch hosts and
spread to new locations,
new competitors may arise.

evolutionary changes in plants:


related to soil conditions, water
stress, flooding, light regimes,
exposure to wind, grazing, air
pollution and herbicides.

Of particular concern during the sixth extinction are the


environmental changes wrought by human activities:

global warming
translocations of species,
extinction of food species,
inadvertent or deliberate introduction of novel chemicals
to the environment

In many cases, adaptive evolutionary


changes have been recorded in affected
species.
When Myxoma virus was introduced into Australia to control
rabbits in 1950, mortality rates of infected rabbits were over
99%. Strong directional selection resulted in rapid increases
in genetic resistance of rabbits to the Myxoma virus.
The Myxoma virus also evolved lower virulence, as this
increased the probability of being transmitted. The mortality
to this virus strain dropped from around 90% to 25% in 1958
(the sixth epizootic).

Adaptive evolution is observed wherever large genetically variable


populations are subjected to altered biotic or physical
environments.
It is of major importance in five conservation contexts:
preservation of the ability of species to evolve
loss of adaptive evolutionary potential in small populations
most endangered species now exist only on the periphery of
their historical range, and must therefore adapt to what was
previously a marginal environment
genetic adaptation to captivity and its deleterious effects on
reintroduction success
adaptation of translocated populations to their new
environment
Selection arises because different genotypes have different rates of
causes adaptive evolution survival and reproduction, resulting in
changes in the frequency of alleles.

Selection operates at all stages of the life cycle.

In animals:

mating ability and


fertility of males and
females,
fertilisation success of
sperm and eggs,
number of offspring
per female,
survival of offspring
to reproductive age
longevity.

In plants:
pollen production,
ability of pollen to reach the
stigma of flowers, germinate,
grow down the style and
fertilize,
number of ova,
viability of the fertilized zygotes,
their ability to disperse,
germinate and grow to sexual
maturity,
the fertility of the resulting plant.

Selection reduces the


frequency of
deleterious alleles

Recessive lethal
chondrodystrophic
dwarfism
(dwdw)

Selection not only applies to lethals. Any allele that changes the
relative fitness of its carriers will be subject to selection. If the
effect on fitness is small then the change in allele frequency will be
correspondingly smaller.

The melanic form of the moth is due to a single dominant


allele. The impacts of selection on the melanic and typical
allele frequencies are given below (the insularia allele is
ignored here, but this does not affect our conclusions). We
begin with frequencies for melanic (M) and typical (t) alleles
of p and q, respectively and assume that we are dealing with a
large random-mating population with no migration or
mutation. Selection is assumed to occur on adults, but before
reproduction. Since the tt genotype has poorer survival than
melanics in polluted areas, but we do not necessarily know the
precise value, we give it a relative fitness of 1 s, where s is
the selection coefficient. The value of s represents the
reduction in fitness of the tt genotype compared to the fittest
genotypes, MM and Mt. For example, if the survival of tt
was only 70% that of MM and Mt, then the selection
coefficient is
1 0.7 = 0.3

Genotype environment interaction


Differences in performance of
genotypes in different
environments:
genotype environment
interactions.

typically develop when populations


adapt to particular environmental
conditions, and survive and
reproduce better in their native
conditions than in other
environments.

may take the form of altered


rankings of performance in
different environments or
magnitudes of differences that vary
in diverse environments

Genotype environment interactions are of


major significance to the genetic management of
endangered species because:
the reproductive fitness of translocated
individuals cannot be predicted if there are
significant, but poorly understood, genotype
environment interactions
success of reintroduced populations may be
compromised by genetic adaptation to
captivity -- superior genotypes under captive
conditions may have low fitness when
released to the wild
mixing of genetic material from populations
from different environments may generate
genotypes that do not perform well under
some, or all, conditions
knowledge of genotype environment
interaction can strongly influence the choice
of populations for return to the wild

Mutationselection balance
Selective value of mutations
As the majority of the genome is not expressed in the
phenotype(i.e. non-coding DNA), mutations in these
regions will not affect fitness and be selectively
neutral. These mutations are, however, invaluable
in conservation genetics as they provide genetic
markers (alleles that differ in frequency among
individuals or populations) such as microsatellites for
identifying individuals, populations and
species.
Mutations that alter the amino acid sequences of
proteins, but do not affect the physiological
functioning of the protein, are also selectively neutral
and provide markers (e.g. allozymes).

Mutations within functional


loci will be predominantly
deleterious as random changes
in the DNA sequence of a
locus will usually be from a
functional allele to a lessfunctional state.
A small proportion of
mutations is advantageous.

Deleterious mutations
occur at thousands of loci
in the genome, so their
cumulative rate is
relatively high

Low frequencies of deleterious alleles are found at many loci in


all outbreeding populations, due to the balance between their
addition by mutation and their removal by natural selection
The mutation load

mutational loads are found in essentially all species, including


threatened species
deleterious alleles are normally found only at low frequencies,
typically much less than 1% at any locus
deleterious alleles are found at many loci
there are differences in frequencies of deleterious alleles
according to the mode of inheritance and dominance
most deleterious mutations are partially recessive

Genetic consequences of small population size


Populations of conservation concern are small and/or declining in
numbers. Small, isolated populations suffer accelerated inbreeding
and loss of genetic diversity leading to reduced reproductive
fitness (inbreeding depression) and reduced ability to evolve in
response to environmental change
Importance of small populations in conservation biology
Small or declining populations are more prone to extinction than
large stable populations.
Species whose adult population sizes are stable and less than 50,
250 or 1000 are, respectively, designated as critically endangered,
endangered and vulnerable

Some species have experienced population size reductions


(bottlenecks), but have since recovered.

The Mauritius kestrel declined to a single pair but has


now recovered to 400-500 birds
Northern elephant seals were reduced to 20-30 individuals but
now number over 150 000. These populations pay a genetic
cost for their bottlenecks; they typically have higher levels of
inbreeding, lower reproductive fitness, reduced genetic
diversity and compromised ability to evolve

Loss of genetic diversity


Many endangered species have
suffered bottlenecks or long
periods at small population sizes.
Genetic diversity is typically lost
as a consequence, reducing
evolutionary potential.
For example, the northern elephant
seals have no allozyme diversity.
Such losses are a consequence of
the random sampling, or chance,
nature of transmission of alleles
from one generation to the next.

Chance effects and genetic drift

Chance effects arise from a random


sampling of gametes in small
populations
some alleles, especially rare ones,
may not be transmitted just by
chance.
The frequencies of alleles that are transmitted to the
following generation are likely to differ from those in the parents
Over multiple generations allele frequencies fluctuate from
one generation to the next, a process termed random genetic
drift.

random sampling of gametes within small


populations has three consequences of major
significance in evolution and conservation:

loss of genetic diversity and fixation of alleles within


populations, with consequent reduction in
evolutionary potential

diversification among replicate populations from


the same original source (e.g. fragmented
populations)

genetic drift overpowering natural selection.

natural selection
favoured the wild-type
allele (+) over the mutant
black (b).
genetic drift has
overpowered this selection
and resulted in fixation
of b in one N = 10
population.

Loss of heterozygosity following bottlenecks


The proportion of initial
heterozygosity retained after a
single generation
bottleneck is:

Single generation
bottlenecks have to be
severe before they
have a substantial impact
on heterozygosity.
A bottleneck of size 2 still
retains 75% of initial
heterozygosity.

H1 = the heterozygosity immediately after the bottleneck,


H0 = the heterozygosity before the bottleneck,
A proportion 1/(2N) of the original heterozygosity is lost.

Effects of sustained population size restrictions


on genetic diversity
The impact of reduced population size occurs in every generation and losses
accumulate with time.
If population size is constant in each generation ---- equation can be extended to
obtain an expression for the effects of sustained population size restriction on
heterozygosity, as follows:

Inbreeding

Inbreeding is unavoidable in
small populations and leads to
reductions in reproduction and
survival
Inbreeding is of profound importance in conservation biology as
it leads to reductions in heterozygosity, to reduced reproduction
and survival (reproductive fitness), and to increased risk of
extinction.
Ex. in a study of 44 captive mammal populations, inbred
individuals experienced higher juvenile mortality than outbred
individuals in 41 cases.
On average, brother--sister mating resulted in a 33% reduction
in juvenile survival.

Inbreeding
coefficient - F
each noninbred ancestor is labelled as
having unique alleles (A1A2, A3A4)
the probability that an individual inherits
two alleles identical by descent (A1A1,
A2A2, etc) is computed from the paths of
inheritance, assuming normal Mendelian
segregation.

Inbreeding in small random mating


populations

Inbreeding accumulates
over time and is more rapid
in smaller than in larger
populations

Measuring population size

The same number of individuals may result in very different


genetic impacts in different species, depending on population
structure and breeding system.
Consequently, we must define precisely what
we mean by population size in conservation genetics.
We do this by comparing real populations to a hypothetical
idealized population.

The idealized population


The simplifying conditions applying to the idealized
population are:
the number of breeding individuals is constant
in all generations
generations are distinct and do not overlap
there is no migration or gene flow
all individuals are potential breeders
all individuals are hermaphrodites
union of gametes is random, including the
possibility of selfing
there is no selection at any stage of the life
cycle
mutation is ignored
the number of offspring per adult averages 1,
and has a variance of 1.

Effective population size (Ne)

Genetic processes in small populations depend on the


effective population size rather than on the number of
individuals

The effective size of a population is the size of an idealized population that


would lose genetic diversity (or become inbred) at the same rate as the actual
population.
For example, if a real population loses genetic diversity at the same rate as an
ideal population of 100, then we say it has an effective size of 100, even if it
has a census size of 1000 individuals.
Thus, the Ne of a population is a measure of its genetic behaviour,
relative to that of an ideal population.

Measuring effective population size


Since
Ne << N
we need to estimate the impacts on effective population size of
unequal sex-ratio, variation in family size, and fluctuations
in population size over generations.
Unequal sex-ratios have least effect, and fluctuations in population
size the greatest effect.
No clear or consistent differences have been found among major
taxonomic groups.

Unequal sex-ratio

Nef = the effective number


of breeding females
Nem = the effective number
of breeding males.

Variation in family size


In a stable population of a randomly breeding
monogamous species:
mean family size (k) is 2 (an average of 1 male
and 1 female to replace both parents)
the variance (Vk) is 2.
(the variance equals the mean for a Poisson distribution)

Most species in the wild have Vk/k ratios


well in excess of the value of 1 assumed
for the idealized population.

High variation
in family sizes in wildlife is
partly due to individuals that
contribute no offspring to the
next generation.
Similar but less extreme
effects arise from very large
and very small families.

Fluctuations in population size


The effective size of a
fluctuating population is
not the arithmetic
average, but the harmonic
mean of the effective
population sizes over
t generations:

Fluctuations in population size,


over generations, reduce Ne
below the average number of
adults

Nei = the effective size in the ith


generation
Ne = the long-term, overall effective
population size.

Population fragmentation
The genetic consequences of population fragmentation depend
critically upon the level of gene flow.
With restricted gene flow, fragmentation is usually highly
deleterious in the long term
The gene flow depend on the:
number of population fragments

distribution of population sizes in the fragments


geographic distribution of populations
distance among fragments
dispersal ability of the species
environment of the matrix among the fragments and
its impact on dispersal
time since fragmentation
extinction and recolonization rates across fragments.

Measuring population
fragmentation: F statistics
Inbreeding resulting from population fragmentation can be used
to measure the degree of differentiation that has occurred among
fragments.
Differentiation among fragments or sub-populations is
directly related to the inbreeding coefficients within and among
populations.
The inbreeding in the total population (FIT) can be partitioned
into that due to:
inbreeding of individuals relative to their sub-population or fragment,
FIS
inbreeding due to differentiation among sub-populations, relative
to the total population, FST.

FIT, FIS and FST are referred to as


F statistics.

FIS is the inbreeding coefficient, F, averaged


across all individuals from all population
fragments.
FIS is the effect of the population subdivision on
inbreeding.