BIO 2133 GENETICS

WEDNESDAY JANUARY 13TH, 2021

SECTION A – 1130AM

SECTION B – 230PM

Exploring the gene, its expression, and transmission

Classical genetics merges the knowledge of DNA, genes, mutations and inheritance
with the scientific method to deduce information about genes, alleles, and gene
function from analyses of genetic crosses, pedigrees, and patterns of inheritance.

It also helps us understand how the results of molecular studies help us understand
aspects of human genetics and genetic disease.
 Today’s session…

1. Announcements
2. Recap….
3. FOXP2 gene Case Study….
4. Transcription and Translation…
5. Expectations….
 How you do feel mentally and physically?

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 Learning objectives
Compare different types of mutations and describe how each can
affect genes and the corresponding mRNAs and proteins.

• Explain gene expression and phenotype expression in terms of DNA transcription

and translation.
• Defend how each strand of DNA of a chromosome can serve as template to
express RNA (and thus proteins).
• Discuss how various factors might influence the relationship between genotype
and phenotype.
• Draw a simple line diagram showing a segment of DNA from a gene and its RNA
transcript, indicating which DNA strand is the template, the direction of
transcription and the polarities of all DNA and RNA strands.
• Describe the process of transcription, and translation. How are mistakes in these
processes identified and corrected?
 FOXP2 DNA, RNA, and Protein

DNA Promoter
(Adapted from Fisher and Marcus, 2006)

mRNA

Protein
Identification of the “speech gene” – FOXP2
The story: In 1990, scientists became interested in the KE family in London, half of
whose family members have speech disorders.
 TRANSCRIPTION

DNA T G AA C C A G T G C A
Transcription
Nucleus

mRNA ACUUGGUCACGU
Translation
Cytoplasm

Protein – Thr – Trp – Ser – Arg-

 Transcription

http://www.youtube.com/watch?v=WsofH466lqk
 How RNA is Produced - Transcription
Step 1: RNA polymerase binds to promoter.

RNA
polymerase
Promoter

Step 2: RNA polymerase unwinds the double-stranded DNA and

begins assembling RNA nucleotides.

GCAT Base
DNA
pairing
DNA CGTA

RNA GCAU
Step 3: Release the RNA transcript.
Q3: For the figure below, which strand is the coding strand?
GCAT i
CGTA ii
GCAU iii

A. i
B. ii
C. iii
D. Both i and ii
Consider the following figure. Draw the directions of the
DNA strands below. What end is (i) at?
i iii
ii

iv

A. 5’ of the coding strand

B. 3’ of the coding strand
C. 5’ of the template strand
D. 3’ of the template strand
 Promoter coding strand
template strand: will Neighbor gene
be transcribed
Transcription start site
5’CG…TATA TATG…ATTA3’ 5’GG…CAT3’
unaffected
3’GC…ATAT ATAC…TAAT5’ 3’CC…GTA5’

5’CG…TATA TATG…ATTA3’ 5’GG…AAT3’

John
3’GC…ATAT ATAC…TAAT5’ 3’CC…TTA5’

5’TATG…ATTA3’ 5’GG…CAT3’
Athena
3’ATAC…TAAT5’ 3’CC…GTA5’
5’CG…TATA TATT…CCTA3’ 5’GG…CAT3’
Phil
3’GC…ATAT ATAA…GGAT5’ 3’CC…GTA5’
5’CG…TTTA TATG…ATTA3’ 5’GG…CAT3’
Cathy
3’GC…AAAT ATAC…TAAT5’ 3’CC…GTA5’
Q5:Which baby is less likely to have severe
speech disorder problems? (“X” indicates a
mutation.)

Coding Strand
Promoter Template Strand
A neighbor gene

A. John

B. Athena

C. Phil

D. Cathy
 Transcriptional Regulation

• Cell Differentiation • Stress Response

Single
No Stress Stress
Cell
mitosis
Daughter
Cells
Expression Expression No expression of
of skin cell of muscle stress response
specific cell specific genes
genes genes

Skin Cell Muscle Cell

FOXP2 Protein

15
 TRANSLATION

DNA T G AA C C A G T G C A
Transcription
Nucleus

mRNA ACUUGGUCACGU
Translation
Cytoplasm

Protein – Thr – Trp – Ser – Arg-

 RNA Brief Review - II
On average, a growing mammalian cell consists of:
5% mRNA (messenger RNA, codes for protein)

15% tRNA (transfer RNA, transfer amino acids during

protein synthesis)

80% rRNA (ribosomal RNA, part of the

ribosome)

17
Identify the players at work
1 3

4
2
Q6: Steps in Translation: The pictures
below show the production of a growing
peptide chain. Place the steps in order.

A B C
1. A, B, C
2. C, B, A
3. B, C, A
4. C, A, B
The Genetic Code
• Codons (triplets)
• Unambiguous
• Degenerate
• Initiation and termination codons
• Nearly universal
Different initiation points create
overlapping genes
 Triplet Code
U C A G

U UUU Phe UCU UAU Tyr UGU Cys

UUC UCC Ser UAC UGC
UUA Leu UCA UAA Stop UGA Stop
UUG UCG UAG UGG Trp
C CUU CCU CAU His CGU
CUC Leu CCC Pro CAC CGC Arg
CUA CCA CAA Gln CGA
CUG CCG CAG CGG
A AUU ACU AAU Asn AGU Ser
AUC Ile ACC Thr AAC AGC
AUA ACA AAA Lys AGA Arg
AUG Met ACG AAG AGG
G GUU GCU GAU Asp GGU
GUC Val GCG Ala GAC GGC Gly
GUA GCA GAA Glu GGA
GUG GCG GAG GGG

22
 Identifying ORFs in DNA sequence
Coding or sense strand of
DNA
STOP

…GGATATGACTTCAGTAACCATCTA
…CCTATACTGAAGTCATTGGTAGAT
Template strand
of DNA

mRNA
Reading Frame: the ribosome establishes the
grouping of nucleotides that
correspond to codons by the first
AUG encountered.
Start counting triplets
from this base

5’…AUAUGACUUCAGUAACCAUCUAACA… 3’
Open Reading Frame: ORF: from the first AUG to the
first in-frame stop. The ORF is the
information for the protein.
More generally: a reading frame with a
stretch of codons not interrupted by
stop
Looking for ORFs
- read the sequence 5’ → 3’, looking for stop
- try each reading frame
- since we know the genetic code—can do a virtual
translation if necessary

Something to think about…

- what might the presence of introns do to our virtual
translation?
 Post-translational
modification
• Removal or modification of the N-terminus;

• Individual a.a. are sometimes modified;

• Carbohydrate side chains are added;

• Polypeptides chains may be trimmed; (see

examples – next slides

• Signal sequences are removed;

• Polypeptides complexed with metals

Post-translational modification
Insulin example