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Lecture 22:

Quantitative
genetics



Estimating broad
(H2)and narrow sense
(h2)heritabilities



(1)Problems for
next week are on the
Moodle site

A!
2

3

4

5

6

7

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Additive effects at
some or all loci
B

coding for
enzymes A-G
C!
where there are:

Partial loss of function
D!
mutations

or, enzyme over
D !
expression,

or some net expression
of a pathway - a
F!
character variant
in a population

G!
and

Environmental effects
(temperature,
nutrients, ph) on
the rate of pigment
production

Broad sense heritability (H2) indicates the influence (%) of inherited variation,

variation transmitted from parents to offspring,

variation segregating in a population sharing a defined environment.


Broad-sense heritability (H2) measures what proportion of phenotype ( a
character e.g. height) variation is due to differences in genotype (all sources of
transmitted genetic variance: (1) ancestry; (2)number and kind of interacting genes
and ; (3) for each of these, the effects of different alleles, of substituting alleles one for
another )

Variance Components

V = variance: variances
are squared, so they may
be added (s2 or 2).

VG - genetic variance

VE - environmental
variance

VP - phenotypic variance

VG
VG
H =
=
(VG + VE ) (VP )
2



There are 2 pure-breeding varieties or strains of

wheat that a farmer wants to cross, trying to breed a

mid-sized strain of grain with low size variation.





Broad sense heritability H2 ?

Generation

Mean
Phenotypic
height (in)
variance
(in height)

P1 Ramona
Strain

13.0

11.0

P2 Baart
Strain

27.6

10.0

F1

18.5

5.0

F2

21.2

40.0

(1) Variance Components



VP = VG + VE


VE=



VP=



VG= (VP - VE)=



H2 =


Method 2

Expected and observed H2, based on familial relationships:

There is an expected positive genetic correlation among individuals in
a family (relatives) due to their (high) proportion of shared alleles
(100%, 50%, 25% etc.).

TRC is one of several fingerprint characters.

Genetic Contribution to Variation in IQ tests 


IQ tests , score word use, number problems, memory processes, spatial configuration
matrices and reaction times and are thought to measure both cognitive abilities and a
general inherited intelligence. 
IQ heritability is estimated using sib data, preferred estimates use monozygotic
estimates, assuming they represent minimize environmental differences:

Different kinds of twin and other familial studies find that IQ heritability estimates
center on 0.75 (Nessier et al. 1996. American Psychologist 51: 77 - 101), although the
range is from 0.4 to 0.9. This suggests that variation due to environmental differences
(education) has less influence on IQ than inheritance.

The problem with this argument is the progressive gains in IQ scores, about 6 IQ points
per decade (Flynn, J.R. 1999 Am. Psychologist 54 5-20). How would you explain this ?

Note: the differences


between countries indicate
how the tests were
standardized, gain can be
compared among nations
but IQ score cannot.

VG
VG
H =
=
(VG + VE ) (VP )
2

VA
h =
VE + (VA + VEp + VGxE + VD )
2



There are other influences some which are genetic but are not directly
inherited : dominance (VD); genotype/ environment interaction (VGE);
epistatic variation or inter-locus interaction (VEp).


All of these variance components are in the numerator of broad
sense heritability (H2) of monozygotic twins, clones or inbred strains,
or they inflate the size of H2 compared to h2.

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Broad sense heritability
(H2) is estimated from:!
1) Partitioning components of variance in breeding designs!
2) expected genetic correlations among relatives, !
3) In particular, monozygotic and dizygotic twin studies.!
!
Broad-sense twin heritability estimates make assumptions :!
!
(a) Ignoring treatments that decrease the environmental
variance of a group - maternal effects, socially treating twins
the same.!
(b) Ignoring differences between monozygotic and dizygotic
twins (dizygotic differences in sex, monozygotic same).!
(c) dominance effects are unimportant. !
!
(d) genotype - environment interaction is insignificant.!
!
!

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VG
VG
H =
=
(VG + VE ) (VP )
2

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VA
h =
VE + (VA + VEp + VGxE + VD )
2

VEp

Epistatic variance

VD Dominance variance

Dominance variance is the variance that is due to interactions between


alleles: effects due to two alleles interacting to make the trait greater (or lesser)
than the sum of the two alleles acting alone (non-additive), and it is not

transmitted,
because gametes are haploid. !

Interactions between different genes, is called epistasis variance, by


definition it is also non additive and it depends on genotype which is partly
recombined each generation!



GE interactions depend on genotype and environment which are not
transmitted directly.

H2 indicates the proportion of phenotype variation attributable to


genotype differences in a population, but it does not tell us how
estimate or predict the fraction of inherited resemblance
transmitted between generations, unless VG = VA.



Narrow sense heritability (VA/VP = h2) is a measurement of the extent
to which variation in phenotypes is determined by the sum of allelic
differences of genes with additive effects, segregating in the parental
generation, transmitted to offspring in a population.



In other words, h2 represents the reliability of the phenotypic value of
the parents as an index of the phenotypic value of the offspring
(breeding value).

3 ways of estimating VA :(1) regression of the offspring average on
the mid-parental average

: (2) selection

(3) variance components in a breeding design.



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A regression line expresses the general linear


trend of y with increasing x (y = mx + b)

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(1) The first method for estimating narrow heritability, h2, using
Parent - offspring regressions. The regression of breeding value
(offspring average) on phenotypic value (parental mean)

h2 represents the
reliability of the
phenotypic value of the
parents as an index of
offspring phenotypic
expression .

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Narrow sense heritability (VA/VP = h2) is a measurement of the
extent to which variation in phenotypes is determined by genes
with additive effects, transmitted by parents to offspring in a
population.



In other words, h2 represents the reliability of the parental
phenotypic value as a predictor of offspring value or expression.



2 ways of estimating VA:(1) regression of the offspring average on
the mid-parental average

(2) selection

Both estimates assume you have approximately normally-distributed
character measurements.



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Method of estimating h2 (2)



How the average character expression of selected individuals
are related to the average size of their offspring is measured by
the heritability (h2) of the character being selected.

R=h2*S

S=Selection differential (difference between the mean of the original
parental population, and the mean of the parental population subset
selected to breed) .

R=Response to selection or the difference between the mean of the
parental population overall and the average of their offspring)

R= h2 * S

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h2 = R/S = 0.71

Parentals

S= difference between
the mean of the
selected and the
whole parental
population


Offspring

R= difference between
the mean of the
offspring and parental
generations



R= 0 ?

R=1.0 ?

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h2 represents the reliability


of the phenotypic value of
the parents as a guide to the
phenotypic value of their
offspring, it tells you how
much of the phenotypic
variation is governed by
inheritance but it does not
tell you anything about
specific genes or alleles

h2 = R/S

If R= S, h2 = 1.0

If R= 0, h2 = 0

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h2 = ?

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If h2=0.64, S=5,

What do you predict will be corolla length
in the next generation (i.e. R)?

Long - term selection for increased oil content in corn (left)


altered bristle number in Drosophila (right)

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Sometimes you select on one character and affect another,


because they share the same genes, they are negatively
genetically correlated or are in a tradeoff.

Alternatively they may be positively correlated because of


non-random assortment of genes or pleiotropic effects of
genes on more than one character

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Flight muscle (DLM) and the number of eggs in


cricket ovaries (ovary weight) have a negative
genetic correlation, wing muscle size (DLM) and
mobile energy reserves (acylglycerol) are
positively correlated.

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Narrow sense heritability (h2), an estimate of


response to selection in populations of non-inbred,
sexually-reproducing families.


VA
h =
VE + (VA + VGxE + VD )
2

VA= additive genetic variation


VGxE= genotype by environment interaction



VD = dominance variance

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Genotype (or Family) by Environment Interaction, VGxE,



different families or clones have different responses to a
change in environment.

2
P

2
G

2
E

2
GxE

= + +

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Sometimes, different genotypes have the same (a) or (b) different


responses to a change in environment.

Figure 18-10

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Fig. 15.10.
Genotype-byenvironment
interaction in maize.
[Data from W. A.
Russell. 1974.
Annual Corn &
Sorghum Research
Conference 29: 81]

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How do you recognize GXE ?


Relations between
environment and
character state of
different inbred fly lines
(colors). Each line
connecting the character
states expressed at each
temperature is called a
norm of reaction.

Note that different strains
in this population have
different norms of
reaction, although in
general, the population
optimum is at 21 degrees.

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!Our understanding of Genetics, summarized by the authors of your text book,


pre-eminant geneticist of our generation, is.. Genes cannot generate or even
dictate the structure of an organism by themselves. The environment
(internal or external) has a crucial ongoing effect and sometimes it is a
controlling component of expression. Ch 1, Griffiths et al 9thedition.!

!
!Model I: genetic determination - a set of instructions for turning
undifferentiated environmental materials into a specific organism.!
!
!Model II: environmental determinism - genes determine proteins , but a
specific environment determines the actual course of development.!
!
!Model III: genotype - environment interaction - the trajectory of
development depends on genes an individual inherits from its parents, and the
sequence of specific environments an individual encounters.!
!
!Model IV: genetic noise - the random element of expression that cannot
be attributed to specific genotype or environmental differences.!

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? VP =VG, VE, or VGxE



1

large

large

size

size

small

small

E1

3

large

E1

E2

E2

4

large

size

size

small

small

E1

E2

E1

E2

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Example Problem

In a quest to make bigger frogs, scientists started with a
random bred population of frogs with an average weight of
500 g. They chose a group with average weight 600 g to
be the parents of the next generation. A few other facts:
VE = 1340, VA = 870, VD = 410.

What is the genetic variance?



What is the phenotypic variance?

What is the broad sense heritability? H2

What is the narrow sense heritability? h2

What is the mean weight of the next generation?


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