Mutations are the result of errors*

 Fidelity (lack of
errors) is vital.
 Errors can be deadly.
 Errors can be
important.
 Errors are the source
of “new” variation!

* We think…
 Protein
synthesis: a
brief review

Read Chap. 17
as needed.
 Early thoughts on the genetic
code
 George Gamow, Russian
physicist
 Defected to US in 1934
 With 4 nucleotides,
 2 letter code = 42 = 16
 3 letter code = 43 = 64
 The Genetic Code
 Sets of three bases (triplets) on mRNA =
codon.
 Each codon specifies an amino acid, or
“stop” or “start”.

UAAGCUAGUAC GUAAG C UAGUAAGC UAGUA

READING FRAME
 The Genetic Code - Examples
 GUU - valine
 CAU - histidine
 UGU - cysteine
 AUG - start
 UAA - stop

Understand Table 17-4

 The Genetic Code is
Degenerate
 More than 1 codon can specify the same
amino acid.
 GUU, GUC, GUA, GUG specify valine.

 GCU, GCC, GCA, GCG specify

alanine.
 Redundancy is primarily at the 3rd position
 Genetic code is almost universal among
life.
 some variation: Some ciliates,

mitochondria, chloroplasts
Table 17-4
 Genetic Abnormalities and
Mutations
 Chromosomal aberrations.
 Changes in number or gross structure of
chromosomes.
Karyotype

Cell arrested
In mitosis
and stained
Spectral Karyotype using a series
of flourescent probes
 Range in animal genomes
 Nematode 2n=2  Shortnose
sturgeon 2n=372

 Chinese muntjac  Indian muntjac

 2n=42  2n=6 or 7
 Ploidy = the number of
chromosome sets present
 Haploid = 1 member of each pair of
homologous chromosomes is present
 Diploid = 2 members of each pair are
present
 Polyploid = More than 2 members of each
pair present
 Haplo-diploid = one sex is diploid, the
other is haploid (e.g. bees, ants, wasps)
 Polyploidy
 Polyploidy. Addition of complete sets of
chromosomes. (Triploidy, tetraploidy, etc.)
 Common in plants. Rare, but known, in animals.
 Many animal polyploids are sterile,

spontaneously abort, or do not survive long.

 Genetic Abnormalities and
Mutations
 Polyploidy can be
artificially induced.

Grass Carp - triploid

Some animals are naturally
polyploid
 Aneuploidy = addition or subtraction of 1
chromosome.
 Results from non-disjunction - failure of

members of a homologous pair to separate.

• May result in monosomic or trisomic condition.
(Monosomy or trisomy.)
 Very common. May be responsible for most
early miscarriages in humans.
• Chromosomal aberrations are found in about half
of all first trimester miscarriages.
 Aneuploidy example: Trisomy
21. Down Syndrome.
 Described in 1866. Cause
determined in 1959.
 Most common serious birth
defect in U.S. 1 in 900
births
 Frequently exhibit:
 Epicanthal fold
 Developmental disabilities,
may be severe to
moderate.
Rhinecanthus aculeatus
 Short stature, flatter face,
protruding tongue, heart
problems,
 Leukemia and altzheimer’s
more common.
 Often “mainstreamed”
Incidence

Age 20-24 = 1 in 1562

Age 50 = 1 in 19

Prenatal screening can

detect with high efficiency

92% of Down Syndrome

pregnancies are terminated
 Terminology for Down
Syndrome
 Mongoloid or Mongolian Idiot
 1961 The Lancet supported Down Syndrome
https://lithub.com/learning-to-
unsay-the-r-word/
 Patau Syndrome

Cleft lip, cyclopea, polydactyly are common.

Survival beyond the first year is “rare”.
 Non-disjunction of Sex
Chromosomes
 Generally less severe
than aneuploidy with
autosomes.
 Y Chromosome is
small
 Extra X can be
inactivated (Barr
bodies)
 Sex Chromosome Abnormalities
Physical
Genotype Sex Syndrome
Traits
sterility, small
XXY, XXYY, Klinefelter testicles,
male
XXXY syndrome breast
enlargement
XYY normal male
XYY male
syndrome traits
sex organs
don't mature
Turner at
XO female
syndrome adolescence,
sterility, short
stature

tall stature,
learning
XXX female Trisomy X
disabilities,
limited fertility
 Where do mutations occur?
 Inany cell!
 Contrast somatic mutations with germ line
mutations.
 Deletion. Loss of a
portion of a
chromosome.
 May be due to
radiation, viruses,
chemicals, etc.
 Example: Cri-du-chat
syndrome.
 Missing portion of
chromosome 5
• Some mental
impairment, abnormal
larynx.
 Duplication. Redundancy of a portion of a
chromosome.
 Tend to be named as “Chromosome 15q
duplication syndrome.”
 Duplications may be harmful, but also play a
part in the production of new genes.
Multigene families.
• Examples: actins, hemoglobins, immunoglobulins,
tubulins, interferons
A B C D E F G H

A B C D E F G H

A B D E F G H

A B C C D E F G H
 Translocation. A portion of a
chromosome is moved to a new
location (non-homologous).
 May result in loss of control of a gene

in the translocated portion.

 Example: Translocation of the myc

gene from chromosome 8 to 14.

• Promoter for another gene (antibody
transcription) then controls myc. Results
in malignancy of white blood cells.
• Genes that are modified to cause
cancers are called oncogenes.
 Point mutations. Changes in a single base pair.
 Common, but usually repaired when they occur.
 Initial rate, about 10/billion per generation, but most are
repaired.
 Causes - radiation, chemicals (mutagens) and other
unknown causes.
 Most mutations are random.
 Mutations may be neutral* or non-neutral**.

*silent
** expressed
Many point mutations are neutral.

Why?
Many point mutations are neutral.

Hint
 Many point mutations are neutral.

Hint
EXON EXON EXON

INTRON INTRON
Hint
Most non-neutral mutations are
deleterious.
Why?
Hint
Most mutations are random
 Types of Point Mutations
 Missense mutation. Causes an amino
acid substitution.
 Types of Point Mutations
 Nonsense mutation. Changes a codon for an
amino acid to a stop codon.
 Types of Point Mutations
 Frameshift mutation. Adds or deletes a
base (insertions or deletions).This
changes the reading frame.
UUUCCACAAAUGACAAAACUA
Phe Pro Gln Met Thr Lys Leu

UUUCCAGCAAAUGACAAAACUA
Phe Pro Val Asn Asp Lys Thr
 Examples of Human Disorders
caused by point mutations
 Red-Green
Colorblindness (X-
linked)
 One of 12 men and
one of every 230
women
 Duchenne muscular dystrophy (X-linked)
 Sickle cell anemia
  Hemophilia (X-linked)

Kate Prince Prince Meghan

Middleton William Harry Markel

Prince Princess Prince Princess

George Charlotte Archie Lillibet
 Most
deleterious mutations are recessive.
Why?

A A
 Most
deleterious mutations are recessive.
Why?

A a
 1. Most deleterious mutations are
recessive.
 2. Most mutations are rare.

 What is the genotype of an affected

individual?
AA AA AA
AA AA AA
AA AA
AA AA
AA AA
AA AA
AA AA AA
AA
AA AA AA AA
AA AA
AA AA
AA AA AA AA
AA
AA
Aa
AA AA AA
AA AA AA

AA AA
 Aa X AA

A A

A AA AA

a Aa Aa
AA AA AA
AA AA AA
AA AA
AA AA
AA AA
AA AA
AA AA AA
AA
AA AA AA AA
AA AA
AA AA
AA AA AA AA
AA
AA
Aa Aa
AA AA AA
AA AA AA

AA AA
 Aa X AA

A A

A AA AA

a Aa Aa
 Aa X Aa

A a

A AA Aa

a Aa aa
AA AA AA
AA AA AA
AA AA
AA AA
AA AA
AA AA
AA AA AA
AA
AA AA AA AA
AA AA
AA AA
AA AA AA AA
AA
AA
Aa Aa
AA AA AA
AA AA AA

AA AA
Inbreeding: matings between close
relatives
 Not just a bad
idea……….
 Inbreeding
 Not just a bad
It’s usually against
idea………. the law.
http://en.wikipedia.org/wiki/Cousin_marriage_law_
in_the_United_States_by_state
Blue Fugates of Kentucky
Photo: J. Engman
1369-1332 BC: Amenhotep IV - Akhenaten
1332-1323 Tutankaten - Tutankhamun
http://www.upei.ca/~cidd/intro.htm
The open-air home of Siegfried &
Roy's Royal White Tigers
is available for public viewing
throughout the day and evening.
Siegfried & Roy have dedicated their
lives to preserving these
rare animals, and their efforts have
helped save them from
total extinction.

http://siegfriedandroy.com/?page_id=1
51
80% of white tigers die very early in
life as a result of birth defects
Photo: M.R. Dare

Photo: J. Engman
1 in 165 on Kuna Islands
1 in 35,000 European populations
 Genetic Screening
 A preventative approach to genetic disorders.
 Family history
 Genetic tests to identify undesirable alleles
 Fetal testing
• Amniocentesis (4-16 weeks)
• Chorionic villus sampling (8 weeks)
• Ultrasound
 Pre-implantation genetic screening
 Very few detectable disorders are treatable.
AA AA AA
AA AA AA
AA
What should happen
AA AA to AA
AAadvantageous
AA and AA
AA
deleterious
AA alleles? AA
AA
AA
AA AA AA AA
AA AA
AA Aa
AA AA
AA AA AA AA
AA Aa
Aa Aa aa
AA AA AA
AA AA AA

AA Aa
AA
 What should happen to
advantageous and deleterious
alleles?
 Evolution
 Evolution can be considered the fundamental
organizing principle in modern biology.
 T. Dobzhansky:”Nothing in biology makes sense
except in the light of evolution.”
What IS evolution? Examples of Definitions
 All the changes that have transformed life on
Earth from its earliest forms to the diversity that
characterizes it today.
 A change in the allele frequency in a population.
 Evolution is accepted by virtually all modern
biologists as fact.
 Some of the mechanisms by which it

occurs, and their relative importance, are

still vigorously debated.
 Modern understanding of evolution stems
from Darwin’s Origin of Species by Means of
Natural Selection.
Review of Darwin’s Biography
 Darwin lived 1809-1882.
 Medical training, but was essentially a naturalist. (Was he
a stamp collector?)
 Voyage of HMS Beagle (1831-36)
 Influenced by Lyell’s “Principles of Geology” and the idea
of uniformitarianism.
 “The present is the key to the past.”
 Lyell also argued that species had been created by God in an instant,
and had not changed since. The Earth, however, had been changing
all along.
Uniformitarianism vs. Catastrophism
 Was influenced by Thomas Malthus’s ideas on human
population growth.
 Growth precludes a utopian society
 “The power of population is indefinitely greater than the
power in the earth to produce subsistence for man.”
 Major Observations On and After the Voyage

 Living species had

distinct resemblances to
fossil species that were
different. (Giant
armadillo, giant llama,
rodent as big as a rhino)
 The Earth has changed
drastically over time.
Ocean fossils found high
in mountains.
 In Galapagos, islands
had their own unique
faunas. There were
similarities to South
American species.
 A complex tale that is usually simplified and often misrepresented.
 Darwin thought they were blackbirds, warblers, wrens and finches.
 He mixed up his samples.
 1839 Married Emma
Wedgwood.
House of Wedgwood, est. 1759
 1839 Married Emma Wedgwood.
 Had 10 children, 3 died in infancy.
 Wrote essay on natural selection in 1844, but did not
publish it. Lyell urged him to publish.
 1858 received letter from A.R. Wallace.
 “All my originality..will be smashed.”
 Lyell presented parts of Wallace’s and Darwin’s work at a
meeting.
 1859 published “On the Origin` of Species”
 Theses in Origin of Species
 1. All organisms have descended with
modification from common ancestors.
 “Descent with modification”
 Theses in Origin of Species
 2. The chief agent of
modification is the action
of natural selection on
variation.
Darwin used artificial
selection to introduce the
idea of natural selection.
 Mayr's analysis of Darwin's theory:
"Differential success in reproduction"
 Fact 1: All species
have the ability to
reproduce and
increase exponentially
if all offspring survive.
 Fact 2: Most
populations are
normally stable in size.
 Fact 3: Natural
resources are limited.
 Inference1: Production of more individuals
than can survive leads to a struggle for
existence. Few offspring survive.
 How many offspring?
 Female fly can lay
600 eggs in lifetime
 If all survived, how
many in
 1 generation?
 2 generations?
 3 generations?
 On average, how
many DO survive?
 Fact 4: Individuals in a population vary.
 Fact 5: Much of the observed variation is
heritable.
 Inference 2: Survival in
the struggle for
existence is not random,
but depends in part on
inherited traits.
Individuals with traits
best adapted to their
environments are likely
to leave more offspring.
 Inference 3: Unequal
ability to survive and
reproduce leads to
gradual change in
populations. Favorable
traits accumulate over
generations.
 Important!
 Evolution is not
self-directed.
 Adaptive traits do
not appear
because they are
needed or useful.
 Individuals do not
evolve.
 Individuals survive
and reproduce, or
they don’t.
 Populations and
species evolve.
Evidence for Evolution
Fossil Evidence for Evolution
 Absence of modern forms in ancient rock.
 Absence of ancient forms in life today.
Trilobite – Covington Kentucky, Ordovician Shale
 Fossil Evidence for Evolution
 Intermediate forms
(Transitional
fossils)
DESCENT WITH MODIFICATION

 Fig. 22.8
 The feather
Solnhoffen, Germany
1860
150 mybp
Archaeopteryx
lithographica*
150MYBP
Discovered in 1861
See page 699
Probably not the common
ancestor of birds, but a
relative of it

*Species are under debate

 Teeth
 Flight feathers
 Vertebrate tail
 Unfused digits
in wing, with
claws
 Reptile-like
breast bone
(sternum)
 Hyperextensible
second toes

Gill Fig. 2-4

Featherless reptiles Archaeopteryx Modern Birds

 Many gaps exist in the fossil record

Sinosauropteryx holotype
1996
Sinosauropteryx
 Fukuipteryx prima
Described in November 2019
Excavated in Fukui, Japan
Estimated 120 MYBP
More advanced than Archaeopteryx.
Has robust pygostyle.
Scientists: Velociraptor had feathers
(AP) 21 September, 2007
Many feathered dinosaurs have been found.