Aim: How are Traits Inherited?

What is
genetics?
 Traits
•Characteristics an
organism possesses
•Examples
•Hair color
•Eye Color
•Height
•Dimples
•Hitchhikers Thumb
•Widow’s Peak
•Freckles
•Colorblindness
 Trait Inventory
Which of the
following
characteristics
do you possess?
 Genetics
• Study of heredity
– Passing of traits from
parent to offspring

http://learn.genetics.utah.edu/content/begin/traits/tour_heredity.html
How Mendel's Pea Plants Helped Us
Understand Genetics
http://www.youtube.com/watch?v=Mehz7tCxjSE

• Each father and mother pass down

traits to their children, who inherit
combinations of their dominant or
recessive alleles. But how do we know so
much about genetics today? Hortensia
Jiménez Díaz explains how studying pea
plants revealed why you may have blue
eyes.
Gregor Mendel (1822-1884)
• Father of Genetics
• Experiments involved
cross-pollinating
PEA PLANTS
• Traits studied: height,
seed color, seed shape
Cross Pollination
• Male sex cells in the
pollen from one
plant fertilizes the
egg cells of a flower
on another plant
– This sexual
reproduction
leads to variation
 Gene
•Genetic material that codes for a trait

•Allele – different versions of a gene

•Example: Height Gene

•Tall Allele
•Short Allele

•One allele is inherited

from each parent
 Law of Dominance
• Dominant Allele
– Stronger Gene – One that
appears when the allele is
present
– Capital letter
– Example: T - Tall

• Recessive Allele
– Weaker gene – One that is
hidden by the dominant
allele
– Lowercase letter
– Example: t - short
 Phenotype Vs. Genotype
• Difference between how an organism
“looks” & its genetics

• Phenotype - Physical appearance

– Tall, short, Brown eyes, Blonde hair

• Genotype - Genetic Makeup - Genes

– Homozygous/Pure Dominant (TT)
– Homozygous/Pure Recessive (tt)
– Heterozygous/Hybrid (Tt)
Comparing Genotype with Phenotype
 Law of Segregation
• During meiosis, genes randomly separate
leading to variation
 Law of Recombination
• During
fertilization, genes
from the female
and male
randomly come
together to form
new combinations
leading to
variation.
 Punnett Square
• Allows you to determine possible gene
combinations from a genetic cross

Possible
Possible sperm cells
egg cells
 Punnett Squares
1. Determine the genotypes of the parent organisms

2. Write down your cross (i.e. BB X bb)

3. Draw a punnett square

4. “Split" the letters of the genotype for each parent & put
them "outside" the punnett square

5. Determine the possible genotypes of the offspring by

filling in the punnett square

6. Summarize results (genotypes & phenotypes of offspring)

Example #1: Garden Pea Plant – Seed Coat (R – round, r
– wrinkled)
Mother – Homozygous Round R R
Father – Homozygous Wrinkled

Cross RR X rr
r Rr Rr
Results:
Genotypes: Round Round
Rr : 100%
100% Heterozygous r Rr Rr
Phenotypes:
Round : 100%
Round Round
100% Round
Example #2: Garden Pea Plant
– Height (T – tall, t – short)
Mother – Heterozygous Tall T t
Father – Heterozygous Tall
Cross Tt X Tt
T T T tT
Results:
TALL TALL
Genotypes:
TT : Tt (or) tT: tt
** 1 : 2 : 1 ** t T t tt
Phenotypes:
Tall : Short TALL SHORT
*** 3 : 1 ***
Aim: How are genes
“linked” together?
Do Now: Heredity Do Now
 The Drosophilia Era
• AKA the fruit fly
• Studied by Thomas H Morgan
– Why?
• Short Life Cycle – 14 days
• Many Offspring – 300+
• Small Size
• Modest Food Requirement
• Few Chromosomes – 4 pairs
• Giant Chromosomes
• Mutant Forms
 Gene Linkage
• Traits inherited together
– Genes located on the same chromosome
are more likely to be inherited together

• Example: Red hair and Freckles

 Crossing Over
• Swapping of genetic material between
chromosomes
– Breaks up linked genes leading to variation
 Sex Linked Traits
• Traits that occur more
often in one sex than
another
• Traits are located on the
sex chromosomes (X or
Y).
– XX – female
– XY - male

• Examples: Hemophilia
and Colorblindness
 Hemophilia
• Blood clotting disorder
• X – normal clotting
• XD - abnormal clotting
• Females
– XX – normal clotting
– X XD – carrier, normal
clotting
– XD XD – abnormal clotting
• Males
– X Y – normal clotting
– XD Y – abnormal clotting
 Colorblindness
•Condition where you can’t
see certain colors due to a
change in the DNA of
special cells called cones
that help you see color.

•Gene carried on the X

chromosome.

•Males are colorblind if they receive one copy of the allele

XC Y
•Females need two copies of the allele to be colorblind.
XC XC = colorblind female
XC X = not colorblind, carrier.
 12 2 8
29 45 5
6 56 7
http://www.metacafe.com/watch/1484492/test_your_eye_color_
 Aim: How does DNA
carry the genetic code?

Do Now:
If you unraveled all
your chromosomes
from all of your
cells and laid out
the DNA end to
end, the strands
would stretch from
the
Earth to the
Moon about
6,000 times.
 DNA: The Book of You
http://ed.ted.com/lessons/dna-the-book-of-you-joe-hanson

• Let's Begin…
• Your body is made of cells -- but how does a single
cell know to become part of your nose, instead of
your toes? The answer is in your body's instruction
book: DNA. Joe Hanson compares DNA to detailed
manual for building a person out of cells -- with 46
chapters (chromosomes) and hundreds of
thousands of pages covering every part of you.
Genetic Information
 Inside the Nucleus…
• Deoxyribonucleic Acid (DNA) - the
genetic code that determines your
proteins/traits.
 Chromosomes
• Portions of DNA wound up and organized
• Humans have two sets of 23 chromosomes.
 Genes
• Segments of
DNA, which
GENE
code for specific
PROTEINS.

• Humans have
approximately
GENE
20,000 genes!
 The Structure of DNA
•Double-Helix (twisted ladder) made of
repeating nucleotides

•James Watson and Francis Crick are

credited with the discovery. They used X-ray
images produced by Rosalind Franklin
 Nucleotides in DNA
• Made up of three portions:
•Phosphate group
•5-carbon sugar - Deoxyribose
•4 Molecular Bases
–Adenine (A)
–Thymine (T)
–Guanine (G)
–Cytosine (C)
 DNA
A T
Nucleotide

C G

Sugar phosphate T A
backbone
Where’s the:
•Phosphate?
G •Molecular Base?
C
•Sugar?
 The Genetic Code- (mistake on your
packet . Copy all of this down)
•The molecular bases (A, T, C, G) determine an
organism’s proteins , which determines their
traits.
•Each organism contains the same 4 bases, but
in a different sequence (order)
 Let’s Review
1. Where is DNA found?
a. nucleusb. ribosome c. cytoplasm
2. Arrange the following in order of largest to smallest:
chromosome, nucleus, gene

Largest 🡪 Smallest
Nucleus🡪Chromosome🡪Gene
3. Which scientist(s) are given credit for discovering the
double helix DNA model?
a. Franklin b. Watson and Crick c. Wilkins

4. What part of DNA carries the genetic code?

Genes
a. phosphate b. sugar c. molecular bases (A, T, C, G)

Chromosome
Aim: How is DNA replicated?
Do Now:

http://www.stolaf.edu/people/giannini/flashanimat/mol
genetics/dna-rna2.swf
http://www.youtube.com/watch?v=dIZpb93NYlw
 Why does DNA Replicate?
• So the cell can pass on
IDENTICAL copies of its
genetic information to its
daughter cells during
mitosis.
 DNA and Base Pairing Rules
• Molecular bases (A, T, C, G) match together
according to the base pairing rules.
– A pairs with T; C pairs with G

Adenine (A) Thymine (T)

Guanine (C) Cytosine (C)

Base Pairing Rules in Action!

G C A T G G C T T A T
 DNA Replication
1. DNA starts as a double-stranded
molecule, where the bases match up
according to the base pairing rules (A:T,
C:G)

Bases
A:T, C:G
 DNA Replication
2. An enzyme unzips the DNA!
 DNA Replication
3. The enzyme, DNA polymerase, adds new
bases to synthesize a new strand of DNA
– Uses the original DNA strand as
“template”

DNA Bases
in Nucleus
DNA
Polymerase
 End Result of DNA Replication
• Produces 2 EXACT (identical) copies of DNA to
split between new cells during mitosis

DNA
polymerase

DNA
polymerase
DNA Replication Summary
 Aim: How are Proteins
Synthesized using the Genetic
Code?

Do Now: Regents Review Questions

HW #8.4: Protein Synthesis

How Cells Make Proteins

DNA

mRNA

Protein
Protein

(amino acids)

Trait - Phenotype
 Protein Synthesis – Overview
▪ The cell uses information from a gene on a
chromosome to synthesize a specific protein.
▪ Protein synthesis takes place in the ribosomes.

Nucleus

Amino Acid Amino

mRNA
Amino Acid Acid

Ribosome

mRNA
 RNAi Discovered
http://www.teachersdomain.org/asset/lsps07_vid_rnai/ (5:00)
 The Role of RNA
• Type of Nucleic Acid

• RNA differs from DNA

– RNA is single stranded.
– RNA contains Ribose
NOT deoxyribose.
– RNA contain A, C, G,
and U (Uracil).
 Types of RNA
• Messenger RNA (mRNA) – copies sections
of the DNA code in the nucleus and carries
the message to the ribosome
• Transfer RNA (tRNA) – carries amino
acids to the ribosome and adds them to the
growing protein.
 Protein Synthesis
1. mRNA Production
• In the nucleus,
segments of DNA are
copied into mRNA
according to the base
pairing rules:
– A:U -T:A
– C:G -G:C
 Protein Synthesis
2. mRNA Attaches to a Ribosome where Proteins
are Synthesized
NUCLEUS

tRNA mRNA

Amino Acid

RIBOSOME

mRNA Start CODON

 Protein Synthesis
3. tRNA carries specific amino acids to the
ribosomes
Amino
acid
• tRNA matches up with a
specific codon –
three-letter code of protein
mRNA bases.

tRNA with
 Protein Synthesis
4. Amino Acids are bonded together to synthesize a
Protein.

Protein
tRNA ribosome

mRNA

CODON
 NUCLEUS

mRNA
tRNA
Amino Acid

RIBOSOME

mRNA Start CODON

Click me!
 Quick Check
1. List one difference between RNA and DNA.

2. What is the role of mRNA?

3. What is the role of tRNA?

4. In what structure/organelle is DNA located in?

5. Where does protein synthesis occur?

6. Three letter codes of bases such as ATC are referred

to as .
Aim: How does the Genetic Code
Determine a Protein’s Shape and
Function?
Do Now: DNA Regents Questions
HW #8.5: Codon Chart
 Review: Protein Synthesis
1. In the nucleus, DNA is copied into mRNA
2. mRNA attaches to a ribosome
3. tRNA brings amino acids to the ribosome by attaching to
specific mRNA codons
4. When amino acids bond together, a protein is made.
 mRNA Codons – Codon Chart
• All organisms use the same 4 molecular bases
– Strongest support for a common origin for all
life
• Code has duplicates
to minimize
mutations
▪ Start codon
◆ AUG
◆ methionine
▪ Stop codons
◆ UGA, UAA,
UAG
 Codon Chart: Transcribe then Translate!

Gene 1 – Lactase Enzyme

Variation 1: Lactose Intolerant
DNA: CCC – CTG – CCG
RNA:
Amino Acid:
Variation 2: Lactose Tolerant
DNA: TCC – CTG – CCG
RNA:
Amino Acid:
 Codon Chart: Transcribe then Translate!

Gene 2 – Hemoglobin Gene

Variation 1: Normal Hemoglobin

DNA: GGA – CTC – CTC
RNA:
Amino Acid:

Variation 2: Abnormal Hemoglobin – Sickle Cell

DNA: GGA – CAC – CTC
RNA:
Amino Acid:
 Protein Shape
•The sequence of amino
acids determine the
protein’s shape.

•Proteins fold into specific

shapes due to the order of
the amino acids, which is
determined by the DNA
base sequence.
 Protein’s Specific Shape
•A protein’s shape determines its function
– Enzymes, Hormones, Antibodies, Receptors
Aim: How do Errors in the Genetic Code
Effect Protein Synthesis?

Do Now: DNA Regent Questions

CFTR: The Gene Associated with Cystic Fibrosis
The Cystic Fibrosis gene is found
on chromosome 7. It takes 2 copies
of the gene to show symptoms.

The CF gene directs the body’s

cells to make a defective form of a
protein called CFTR in cells that
line the lungs and pancreas. This
causes cells to be unable to
regulate balance of water and salts
to maintain normal amounts of
fluids and mucus.
This is a transport protein in the cell membrane that regulates
salts and water moving in and out of the cells. If this protein is
not synthesized correctly, it will not function correctly.
Therefore salts and water cannot move in/out of the cell and
cause a thickening and build-up of mucus.
 Mutations

http://io9.com/10-unusual-genetic-mutations-in-humans-470843733
 Mutations
•Changes in the DNA base sequence (A, T, C, G) leads
to changes in protein shape

•Different order of bases 🡪 different amino acids 🡪

different protein shape 🡪 different protein function

http://www.brainpop.com/science/cellularlifeandgenetics/geneticmutations/
 Types of Mutations

• Substitution - Single base change

– Example: ATC TAG 🡪 ACC TAG

• Deletion – removing one or more bases

– Example: ATC TAG 🡪 ATT AG

• Addition/Insertion – adding one or more bases.

– Example: ATC TAG 🡪 ATT CTA G
What type of mutation causes Cystic Fibrosis?
What type of mutation causes Huntington’s Disease?
What type of mutation causes Breast
Cancer?
 When Do Mutations Occur?
• Mutations commonly occur during DNA
replication
 How are Mutations Passed On From
One Generation to the Next?
• Mutations must be present in the gametes (sperm
and egg) to be passed onto the next generation.
 Environmental Sources of Mutations
•Mutagenic Agents (carcinogens) cause cancer.
– Chemicals, UV Radiation, X-Rays
 Aim: Why do Different Cells
Synthesize Different Proteins?
Do Now: Protein Synthesis Review
 DNA and Your Cells

•Every cell in your body has the SAME

DNA – every cell is IDENTICAL
•ALL cells come from one single cell - a
ZYGOTE
•The zygote then undergoes MITOSIS
making all the other cells in your body.
 Gene Expression
•Cells have IDENTICAL
DNA, but different
functions – WHY???
•DIFFERENTIATION
•Each cell EXPRESSES
different segments of DNA
 How Does a Gene Express Itself?
•Each cell selectively activates specific genes
•Activated genes determine which specific
proteins are made by a cell
*DNA🡪RNA🡪Amino Acid 🡪 Protein🡪Trait**
 Melanocytes If UV rays
produce exceed what can
melanin to be blocked by
protect the your level of
skin from UV melanin,
rays sunburn results

Melanocytes

•Certain genes are turned on/activated by

environmental factors
•Examples in Humans: Freckles, brown eyes
 Protein A
Protein B

In this image:
a.What genes are activated (expressed)? Explain.

b.What genes are NOT expressed? Explain.

 The human liver contains many specialized cells
that secrete bile. Only these cells produce bile
because

(1) different cells use different parts of the genetic

information they contain
(2) cells can eliminate the genetic codes that they do not
need
(3) all other cells in the body lack the genes needed for
the production of bile
(4) these cells mutated during embryonic development
 GENES Vs.
ENVIRONMENT
Because identical twins
are genetically the same
but their environments
become more unique as
they age, identical twins
are an excellent model for
studying how
environment and genes
interact.
 Environmental Effect
•Environmental factors influence
how genes are expressed
•Genes + Environment = Trait
Examples:
–Identical Twins
–Himalayan Rabbits
–Hydrangea

Epigenetics – Nova Science NowEpigenetics – Nova Science Now:

 Identical Twins
• Identical twins have the same DNA, but as they get
older more and more differences appear. WHY?
– The expression of genes is modified by
environmental factors
Although identical twins inherit exact copies
of the same genes, the twins may look and act
differently from each other because
(1) a mutation took place in the gametes that
produced the twins
(2) the expression of genes may be modified by
environmental factors
(3) the expression of genes may be different in
males and females
(4) a mutation took place in the zygote that
produced the twins
 Himalayan Rabbits
•A Himalayan rabbit’s fur is shaved.
•If the rabbit is exposed to cold, it will grow
back black.
• If the rabbit is exposed to warm, it will grow
back white.
 Hydrangea Flower
• Depending on the pH of the soil,
hydrangea can range in color from blue to
pink.
In the summer, the arctic fox appears brown
because its cells produce dark pigment. However,
in winter the arctic fox appears white because the
dark pigment is not produced. The color change
is most likely due to the effect of

(1) different genes produced during the

different seasons
(2) increased pollution on genetic mutations
(3) environmental conditions on gene
expression
(4) poor nutrition on cell growth and
development.
Aim: How Can We Determine
Genetic Disorders?
Do Now: Take a sheet from the bin ☺

HW #8.8: Karyotyping
Test Friday
 99 Balloons
1. What disease did Eliot have?

2. What caused Eliot’s disease?

3. How could you determine if Eliot had

this disease?

http://video.google.com/videoplay?docid=-4324974671412264298&ei=i6WZSe33PJPiqQLArJz8CA&q=edward+syndrome&hl=en
 Karyotype
•All 46 chromosomes are
arranged by size
(number)
– 22 homologous pairs
– 1 pair of sex chromosomes
• Male XY
• Female XX

•Used to diagnose
genetic disorders due
to chromosomal
abnormalities.
 NONDISJUNCTION
• Chromosomes do NOT
separate properly during
meiosis
• Sex cells have the
incorrect number of
chromosomes
– TRIsomy - cells have
3 copies of a
chromosome
– MONOsomy - cells
have only 1 copy of a
chromosome
 Down Syndrome
• Trisomy 21 - 3 copies of
chromosome 21
– 1 in 700 children born in U.S.
• Syndrome - Characteristic set
of symptoms
• Frequency of Down
syndrome is related to
the age of the mother
Down Syndrome & Age of Mother
Incidence of Down
Mother’s age Syndrome
Under 30 <1 in 1000
30 1 in 900
35 1 in 400
36 1 in 300
37 1 in 230
38 1 in 180
39 1 in 135 Rate of miscarriage due to
40 1 in 105 amniocentesis:
▪ 1970s data
42 1 in 60
0.5%, or 1 in 200 pregnancies
44 1 in 35
▪ 2006 data
46 1 in 20
<0.1%, or 1 in 1600
48 1 in 16 pregnancies
49 1 in 12
 Edward’s Syndrome
• Trisomy 18
– 3 copies of chromosome 18
– 1 in 6,000 children born in
U.S
• Of all babies born with
trisomy 18:
– 50% do not survive one week
of age
– 90% do not survive past the
first year of life

http://video.google.com/videoplay?docid=-4324974671412264298&ei=i6WZSe33PJPiqQLArJz8CA&q=edward+syndrome&hl=en
 Sex Chromosomes Abnormalities

• XXY = Klinefelter’s syndrome male

• XXX = Trisomy X female
• XYY = Jacob’s syndrome male
• XO = Turner syndrome female
Klinefelter’s Syndrome
• XXY male
– one in every 2000 live births
– have male sex organs, but are
sterile
– feminine characteristics
• some breast development
• lack of facial hair
– tall
– normal intelligence
 Jacob’s Syndrome Male
• XYY Males
– 1 in 1000 live male
births
– extra Y chromosome
– slightly taller than
average
– more active
– normal intelligence, slight learning disabilities
– delayed emotional immaturity
– normal sexual development
 Trisomy X
• XXX
– 1 in every 2000 live births
– produces healthy females
• Why?
• Barr bodies
– all but one X chromosome is inactivated
 Turner Syndrome
• Monosomy X or X0
– 1 in every 5000 births
– varied degree of effects
– webbed neck
– short stature
– sterile