PHYSICAL ANTHROPOLOGY
CHAPTER 4
PROFESSOR SOLIS
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Heredity and Evolution
Research on principles of heredity
How do physical traits like color and
height become expressed?
Experimented with garden plants and
created hybrids.
Hybrids: offspring of individuals that
differ with regard to certain traits or
certain aspects of genetic makeup;
heterozygotes.
Gregor Mendel, July 20,
1822– January 6, 1884
How are traits inherited?
Mendel believed that a genetic
traits were a combination, a T
blending, of a traits passed on S
by their parents.
For example – one tall parent
and one short parent, would
produce offspring of medium
height.
M
How are traits inherited?
As Mendel kept cross
hybridizing plants –
He realized that the first
generation were tall, and
the second generation were
¾ tall and ¼ short
What this means, is that
genes for both traits get
passed on, but some are
expressed and some are
not.
How are traits inherited?
Since genes occur in pairs,
and separate and then
come together during
fertilization – this is called,
the Principle of
Segregation.
Homozygous/Heterozygous
Homozygous: Having the same allele (gene)
Heterozygous: Having different alleles (gene)
For our purposes we will use the terms “allele”,
“zygote” and “gene(s)” synonymously
How are traits inherited?
Dominance vs. Recessive
When a trait was expressed, Mendel
called this: dominant.
Dominant: Describes a trait governed
by an allele that’s expressed in the
presence of another allele (i.e. in
heterozygotes). Dominant alleles
prevent the expression of recessive
alleles in heterozygotes.
How are traits inherited?
Dominance vs. Recessive
When the trait is not expressed and
appears to be lost, Mendel called this:
recessive.
Recessive: Describes a trait that isn’t
expressed in heterozygotes; also
refers to the allele that governs the
trait. For a recessive allele to be
expressed an individual must have two
copies of it (i.e. the person must be
homozygous).
Recent studies have indicated that
recessive genes may also act to
reduce the phenotype or biology of a
dominant trait.
How are traits inherited?
The combination of genetic traits is called a person’s
“genotype”: The genetic makeup of an individual.
Genotype can refer to an organism’s entire genetic makeup
or to the alleles at a particular locus.
Tall / Short
How are traits inherited?
The expressed version of
the genes are called a
person’s “phenotype”.
When we look at
inheritance we view it as a
Punnett Square – this Parental gametes
illustrates the proportions of T t
the phenotypes
TT Tt
T
The genes make up the Tall Tall
genotype Tt tt
t
Tall Short
How are traits inherited?
Some genetic traits are
not inherited together….
Meaning that height and
eye color are (for
example are not a
package deal). They are
independently inherited.
This is called, ‘Principle of
Independent Assortment”
How are traits inherited?
Various Recessive and
Dominant traits are referred to
as Mendelian Traits, after
Gregor Mendel. (list on page
70)
camptodactyly
Dwarfism
Patterns of Inheritance
Patterns of Inheritance are displayed as a Pedigree Chart.
= female = affected female
= male = affected male
= =
=
Patterns of Inheritance
Probability of genetic inheritance is shown as a
Punnett square
Patterns of Inheritance
Autosomal Dominant Traits –
Anyone who inherits just one
copy of this gene will
express the trait.
(brachydactyly- shortness of
the fingers and toes.)
Autosomal Recessive Traits –
Genetic traits that are not
expressed if received from
only one parent, but
expressed if received from
both. (albinoism)
How are traits inherited?
Some genes are located on the
X and Y chromosomes. These
are called, “sex linked traits”.
An example of a sex linked
trait, is Hemophilia.
impair the body's ability to control
blood clotting or coagulation, which
is used to stop bleeding when a
blood vessel is broken
Icthyosis- The severity of symptoms
can vary enormously, from the mildest
types such as ichthyosis vulgaris which
may be mistaken for normal dry skin
up to life-threatening conditions such
as harlequin type ichthyosis.
Non-Mendelian Inheritance
Mendelian traits (as we have seen) are
discrete…
The traits are either expressed or
recessive and they fall into particular
categories.
Some genetic traits do show a “graded
expression” – meaning in a way, they are a
combination of the inherited traits. These are
called, polygenic.
Non-Mendelian Inheritance
Polygenic: Referring to traits that are
influenced by genes at two or more loci.
Stature, skin color, eye color, and hair color
are examples of polygenic traits. Many,
but not all (eye color for example)
polygenic traits are influenced by
environmental factors such as nutrition.
Best example is skin color.
Melanin production influences skin
color. The more pigment reducing
alleles or genes you inherit, the
lighter your skin color.
Non-Mendelian Traits (polygenic)
Scientists treat polygenic traits
statistically, because they can be
measured. 50
45
Treated statistically 40
Find the average (average
35
30
height, average weight, 25
US
etc.) 20 Eu r o p e
15
Find the standard deviation 10
(the amount of variation in 5
a group) 0
<5 f t <5 . 5 <6 f t < 6.5
ft ft
Pleiotropy
Pleiotropy – a situation that occurs when the action of a
single gene influences several seemingly unrelated
phenotypic effects.
One of the most widely cited examples of pleiotropy
in humans is phenylketonuria (PKU).
This disorder is caused by a deficiency of the enzyme
phenylalanine hydroxylase, which is necessary to
convert the essential amino acid phenylalanine to
tyrosine.
A defect in the single gene that codes for this enzyme
therefore results in the multiple phenotypes associated
with PKU, including mental retardation, eczema, and
pigment defects that make affected individuals lighter
skinned (Paul, 2000).
Mitochondrial Inheritance
All cells contain several hundred mitochondria
It is distinct, or separate from regular DNA.
The entire cell has been sequenced and it
contains about 40 genes
Animals of both sexes get all their mtDNA from
their mother.
Inherited from only one parent – therefore
meiosis and recombination don’t occur.
Any variation that occurs, can only come from
mutations in the cell.
Because of this, it is possible for scientists to
study genetic change over time, rates of
mutation, and relationships between
populations.
Genetic and Environmental Factors
Are biological conditions always the result of
internal biological factors? NO.
Theenvironment plays a role in biological
conditions.
Stature: Stature can change as a result of
environmental conditions, such as diet.
Sunlight: Too much exposure increases risks
for many cancers
Toxic waste, airborne pollutants. (Owens
Valley)
Modern Evolutionary Theory
The Modern Synthesis
Mutation and Natural Selection don’t work
against each other, they work with each other.
New definition of evolution; (modern genetic
definition) A change in the frequency of alleles from
one generation to the next.
A two stage process
1. The production and redistribution of
variation (inherited differences among
individuals)
2. Natural selection acting on this variation,
whereby inherited differences, or
variation, among individuals differentially
affect their ability to successfully
reproduce.
Factors that Produce/Redistribute Variation
Mutation : point mutation; a chemical
change in a single base of a DNA
sequence.
Mutations have to occur in the sex
cells if they are going to be
important from an evolutionary
perspective (i.e. passed on in order to
be manifested)
They need to occur from one
generation to the next.
They need time.
Mutation rates for any given trait are
relatively low.
Mutation remains the basic creative
force in evolution because it’s the only
way to create new genetic variation
Gene Flow
Other factors that contribute to genetic change
Gene flow
Exchange of genes between populations
Americans with mixed ancestry
African Americans living in northern and
western U.S. have a 20 to 25%
proportion of non-African genes.
Genetic drift
Evolutionary changes – that is, changes in allele
frequencies produced by random factors.
Genetic drift is a result of small population size.
Founder effect: A type of genetic drift in which
allele frequencies are altered in small
populations that are taken from, or are remnants
of larger populations. (Blue Fugates of
Appalacia)
Recombination
When paired chromosomes
exchange DNA segments, they
can alter other genes.
The combining of genes don’t
cause evolution, but they can
affect the way other cells
operate, just by being reshuffled
close to another gene.
Can determine whether some
genes become expressed or
not.
Natural Selection Acts on Variation
Mutation, Gene Flow, Genetic Drift, and Recombination are all
evolutionary factors that produce variation within and between
human populations.
As these variations occur and become expressed, some are
beneficial (i.e. immunity to malaria), and some expressions are not
(i.e. sickel cell anemia).
Change takes place over time…
We don’t look at individuals, but entire groups of
individuals; or populations. It is the populations that change
over time.