2020

Lecture 16
Use the following information for questions 1-3 below: In dragons, there are three
alleles for scale color: B, R, and C. The B and R alleles are codominant with B

DNA Structure and Replication, giving blue colored scales and R giving red colored scales. When both B and R
are expressed equally, the dragon has scales that are both blue and red. The C
allele is recessive, giving colorless scales.
Transcription and Translation _____ 1. If a dragon has the genotype RC, what color are its scales?
a) red b.) colorless c.) red and blue combination d.) blue

_____ 2. If a dragon with the genotype BR mates with a dragon with the
genotype CC, what phenotypes may be present in their offspring with
regard to scale color?
a) Colorless only b.) Blue OR red only
c) Blue OR red OR colorless d.) Blue OR red OR blue/red combination

_____ 3. If I changed the problem above to say that blue was the dominant allele
and phenotype for scale color, red was the recessive allele and phenotype,
and that heterozygotes exhibited purple scales, what would the scale color
genes be an example of?
a) Codominance b.) Mendelian inheritance c.) Incomplete dominance
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_____ 4. Wings and claws are inherited in a Mendelian fashion in dragons.

Wings (W) are a dominant trait in dragons with wingless being the _____ 5. If a family has four children, what is the probability that all four will be
recessive allele (w). Long claws (L) are dominant over short claws (l). If a girls? (Note: These events are independent of each other.)
cross is made between a purebred wingless, long-clawed dragon (wwLL), a) 1/8 b.) 1/16 c.) 2 d.) ½
and a purebred winged, short-clawed dragon (WWll), what is the result?

a) All winged, long-clawed dragons

b) All wingless, short-clawed dragons _____ 6. If a family has two children, what is the probability that both are girls OR
c) 50% winged, long-clawed dragons and 50% wingless, short-clawed dragons both are boys? (Note: These events are mutually exclusive. If the family
has two girls, then they cannot have two boys and vice versa.)
a) 1/16 b.) 1/8 c.) ½ d.) 3/4

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Question Question
A female human with 47 chromosomes, including only two X chromosomes has:

A. Sex chromosome aneuploidy

Inheritance of a dominant autosomal disorder differs from
B. Sex chromosome polyploidy inheritance of an autosomal recessive disorder because
C. Autosomal polyploidy

D. Autosomal aneuploidy A. a dominant disorder may be passed on only if both parents

are affected.
A human embryo with 69 chromosomes would: B. a dominant disorder is evident only if the offspring is
homozygous for the allele.
A. Be considered polyploid
C. a dominant disorder is more often seen in females.
B. Die in the womb
D. a dominant disorder may be passed on even if only one
C. Both A and B
parent has an allele for the disorder.
D. Neither A nor B

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Today: Characteristics of Genetic Material

• DNA Structure
1. Must have informational content
• DNA Replication
2. Must replicate faithfully
• Transcription
– DNA to mRNA
3. Must be able to translate information into a phenotype
• Translation
– mRNA to protein 4. Must be able to exhibit variation

• Genetic Regulation

• Mutations
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DNA Structure – A History

http://www.pbs.org/wnet/dna/timeline/

• 1930’s – one molecule likely is the basis of inheritance

• 1940’s – chromosomes pass on information (DNA or protein?)
• 1952 - Wilkins and Franklin take X-ray images of DNA crystals
• 1953 – Watson and Crick describe DNA structure as a double helix Molecular Biology
• 1962 – Nobel prize to Watson, Crick, and Wilkins (not Franklin)

James Watson (left) Rosalind Franklin

and Francis Crick 9 10

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DNA Structure – DNA Structure –

Components Double helix
• Like a “spiral ladder”
• Nucleotides • ______________- Outside
1. Phosphate group “rails” are alternating sugar and
phosphate connected by
2. Deoxyribose sugar covalent bonds
3. Nitrogenous base • _______________- Inner “steps”
(1 of 4) are DNA bases that are linked by
hydrogen bonds
– A pairs with T
– G pairs with C

Hydrogen bonds
Covalent bonds
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DNA Structure – DNA Structure – Reveals how replication and

Double helix genetic code work
• __________– the two DNA 5’ 3’
strands are parallel but run in • Complementary nature – means a single DNA strand can
opposite directions serve as a template for the second
– This is the only way – Requires splitting of the old DNA strands, a new complementary
hydrogen bonding can occur strand can be added to each of the old strands
between base pairs
• The code of base pairs: A, G, C, and T – arrangement codes for
• _____________ proteins
– A pairs with T
– C pairs with G
3’ 5’ • Life maintains continuity, because old strands remain  new
strands are added to the old

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Figure 10.6

Parental (old)
DNA Replication DNA molecule

• Enzymes:
– _________– unwind
the DNA double helix
– __________________
move along each
strand of DNA, joining Daughter
(new) strand
nucleotides as they are
added one by one to Parental
form the new, (old) strand
complementary DNA
strand, always 5’ to 3’
• Can move
backwards to
correct mismatches
Daughter DNA
molecules
15 (double
© helices)
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Figure 10.7
Origin of
replication
Origin of
replication
Overview of Protein
Parental strands Synthesis

• Transcription
Origin of – In the nucleus
replication – DNA  mRNA
Parental strand
Daughter strand

• Translation
Bubble – In the cytosol (cytoplasm
outside the nucleus)
– mRNA  protein

Two daughter DNA molecules

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RNA and DNA are both nucleic acids but they Transcription
have key 3 differences

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Transcription
• Enzyme = ______________ Question
– Functions:
• Unwinds DNA
• Strings together complementary RNA = primary transcript If a sequence of DNA reads 5’-ATGCCA-3’, what will the mRNA
– Primary transcript undergoes editing to become mRNA read?
• _______= messenger RNA
– Encodes and carries the A. 5’-UGGCAU-3’
message/information for
protein synthesis to the
ribosomes in the cytosol B. 5’-UACGGU-3’
– Each 3 mRNA bases codes
for 1 amino acid  triplet C. 5’-AUGCCA-3’
code = ________
– _____________– all the
linkages between
nucleotide triplets and the
amino acids they code for
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Transcription makes mRNA for Protein structure

translation and translation
makes proteins
• Protein
– Made of ______________– amino acids amino acid
linked in a linear fashion, fold to make
proteins R-group
– Most proteins are hundreds of amino acids
strung together
– _________ polypeptide chain
• “building blocks” of protein
• _______ (combine like the letters of the
alphabet  order matters, determines
unique proteins
• 3 letter abbreviation and single letter
abbreviation for each protein
– Ex.) glycine gly G
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Figure 10.14
Amino acid attachment site

Translation – mRNA to protein

• _______= transfer RNA

– The translator
– ________ binds to mRNA codon Hydrogen bond
– Other end has amino acid
attachment site (specific tRNAs for
each amino acid)
RNA polynucleotide chain

Anticodon
tRNA
tRNA polynucleotide (simplified
25 (ribbon model) © 2017 Pearson Education, Ltd. representation)

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Figure 10.10
Second base of RNA codon
U C A G
UUU
Phenylalanine
UCU UAU
Tyrosine
UGU
Cysteine
U Translation – mRNA to protein
UUC (Phe) UCC UAC (Tyr) UGC (Cys) C
U Serine • __________– organelle that makes proteins
UUA UCA (Ser) UAA Stop UGA Stop A
Leucine – 2 subunits (1 large, 1 small)
UUG (Leu) UCG UAG Stop UGG Tryptophan (Trp) G
– Subunits are apart until needed for translation
CUU CCU CAU CGU U
Histidine – Consists of proteins and______= ribosomal RNA
Third base of RNA codon
First base of RNA codon

CUC CCC CAC (His) CGC C

C Leucine Proline Arginine
CUA (Leu) CCA (Pro) CAA CGA (Arg) A
Glutamine
CUG CCG CAG (Gln) CGG G

AUU ACU AAU AGU U

Asparagine Serine
AUC Isoleucine ACC AAC (Asn) AGC (Ser) C
A (Ile) Threonine
AUA ACA (Thr) AAA AGA A
Lysine Arginine
AUG Met or start ACG AAG (Lys) AGG (Arg) G

GUU GCU GAU GGU U

Aspartic
GUC GCC GAC acid (Asp) GGC C
G Valine Alanine Glycine
GUA (Val) GCA (Ala) GAA GGA (Gly) A
Glutamic
GUG GCG GAG acid (Glu) GGG G
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Translation
Steps of Translation
1. __________
1. Initiation
– mRNA binds to ribosome, then tRNA arrives
– mRNA binds small subunit of ribosome
– Usually AUG is “start codon” on mRNA
– tRNA with anticodon UAC (codes for Methionine) binds to mRNA
2. ___________
– Polypeptide chain is elongated
– Ribosome large subunit binds, provides A, P, and E binding sites (aminoacyl,
2. Elongation
peptidyl, exit)
– 2nd tRNA brings in 2nd amino acid, 2nd amino acid binds to the 1st amino acid • Eukaryotic ribosomes string 4 amino
which then breaks its bond with its tRNA acids per second and can have multiple
– Ribosome shifts over one codon, tRNAs move down from P to E site ribosomes per transcript
– This continues…
3. _____________ 3. Termination
– 3 codons for STOP signals instead of amino acids, severs linkage between P-
site tRNA and polypeptide chain

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Genetic Regulation Genetic Regulation

• _____________– full complement of DNA found in the nucleus of each 1. Promoters, enhancers, and transcription factors
human cell – _________– region of DNA upstream from a gene, controls base level
– Less than 2% codes for proteins (2003) of transcription
– What else? – _________– region of DNA that binds proteins to position them to
position RNA pol on promoter, increases rate of transcription
1. Junk?
– Transcription factors – proteins that bind DNA, help RNA pol line up,
2. Regulatory function can affect what genes are “on”, “off”, primed
2. Micro-RNAs
– Micro-RNAs- Non-coding regulatory RNA sequences
– Interfere with mRNAs before they can be translated and/or target
them for destruction (by the slicer enzyme)
3. Alternative splicing
– _______ – protein coding portion of genes
– _______– intervening sequences, 90% of the average gene
– How 20-25,000 genes in humans produce 90,000 proteins
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Figure 11.5
Genetic Regulation – Promoters, Figure 10.13
Genetic Regulation – RNA splicing
Enhancers, Transcription Factors DNA
Enhancers (DNA control sequences) Transcription
Cap Addition of cap and tail
RNA
transcript
with cap
and tail
Introns removed Tail

Exons spliced together

RNA polymerase mRNA

Coding sequence
Gene Nucleus
Bend in
the DNA
Transcription Cytoplasm
Transcription Promoter
factors

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Mutations in DNA
Figure 11.6-s3

• ____________– permanent alteration of a DNA base sequence

Exons
– Germ-line mutation – in germ-line cell, heritable
Somatic mutation – in somatic cell, non-heritable
DNA 1 2 3 4 5 – ____________– a mutation in a single base pair in the genome;
usually inconsequential but in rare cases can have an effect
Introns • Causes:
– ___________ – substances that can mutate DNA; Ex.)
chemicals in cigarette smoke, UV light, free radical
– Random or spontaneous - errors by DNA replication
RNA 1 2 3 4 5
transcript machinery

RNA splicing
or

mRNA 1 2 3 5 1 2 4 5

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Sickle Cell Anemia: Mutations in DNA

Sickle-cell Disease Caused by mutation
(an example in DNA
of mutation) • Mutation – permanent alteration of a DNA base sequence
– ______________– a mutation that results in the insertion or deletion of a
point
 In Sickle-cell disease the hemoglobin gene contains a _____ number of nucleotides not divisible by 3, which results in a change in the
mutation a single nucleotide change
__________: reading frame (Insertions or Deletions)
– Example:
THE FAT CAT
ATE THE RAT

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Mutations - Results
• Results of mutations:
1. Neutral: No change
2. Beneficial: Evolutionary adaptations
3. Harmful: Diseases
• Heritable genetic diseases (Huntington disease, cystic fibrosis, etc.)
• Cancer

Sorry sci-fi fans,

mutagens don’t really
cause this much change
in a single organism
http://www.livefitthrive.com/health/doctors-guide-skin-cancer/
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