DNA

Its not just for college anymore!

Web Sites
DNA structure and replication animation
http://207.207.4.198/pub/flash/24/menu.swf

Overview of gene expression

http://www.genomicseducation.ca/animations/gene_expression.asp

DNA Models & Translation model

http://www.indigo.com/models/dna-models.html

Learning Goals for DNA & Genetics

Know structure/function of DNA

Know DNA is genetic material
Illustrate how DNA specifies traits
Understand mutations are change in DNA
sequence
Understand relationship between
mutations in DNA and expressed
phenotype

What Is DNA
Deoxyribonucleic acid
Everyone knows this?

Molecule of heredity
Constitutes our genes
Genes are stretches of DNA sequence
DNA is present in each cell
Passed on to gametes and into progeny

What is DNA, Really

Polymer of nucleotides
Polymer? Nucleotides?
Polymer
A large molecule that is a series of joined smaller
molecules

Nucleotides
The small molecules that make up the large DNA
polymer

DNA Concepts

Genes
Chromosomes
Complementary base-paired double helix
Polymer of nucleotides
The sequence of nucleotides is the
information of DNA

DNA Concepts

DNA controls traits of organism

Traits pass from parent to offspring
DNA is copied during cell division
DNA is present in sex cells
DNA is passed from parent to offspring

Why are DNA Concepts Difficult?

Chemical names?
Deoxyadenosine, purine, pyrimidine

Chemical processes?
base pairing, hydrogen bonds

Genetic principles?
DNA replication
Mutations
Chromosome segregation & assortment

Why is DNA So Difficult?

Chemical Names
Deoxyadenosine monophosphate
Pyrimidine

Persons Names
Martina Navratilova
Hakeem Olajuwon

How About Pictures + Names

A

E Hakeem Olajuwon
__
F Purine
__
C Kareem Abdul-Jabbar
__
H Deoxyadenosine monophosphate
__
B Pyrimidine
D
__
G Martina Navratilova
__
D Deoxycytidine monophosphate
__
A Nadia Comaneci
__

Nucleotides
The building blocks of DNA

Nucleotide Structure

Base always
attached here

Phosphates are
attached there

Nucleotides

Adenosine monophosphate
Cytidine monophosphate
Guanosine monophosphate
Uridine monophosphate

Deoxyadenosine monophosphate
Deoxycytidine monophosphate
Deoxyguanosine monophosphate
Deoxythymidine monophosphate

Nucleotide Polymerization Reaction:

Phosphodiester Bond Formation

Order of Nucleotides
As nucleotides join the strand they
generate a sequence
Inherent fidelity of DNA replication

TAAGTGTACACGTA
G
C GATTCACATGTGCAT
TAAGTGTACACGTA
T
C
AAT CGTAAGTGTACACGTA
C
A CCAT
C
TTCA
TCACATCG
TAAGTGTACACGTA
AGTCCGATCGTAACTGGGTCACATCGTAAGTGTACACGTA
AGTCCGATCGTAACTGGG
T
||||||||||||||||||||||||||||||||||||||||
||||||||||||||||||
||||||||||||||||||||||
TCAGGCTAGCATTGACCCAGTGTAGCATTCACATGTGCAT
TCAGGCTAGCATTGACCC
AGTGTAGC
ATTCACATGTGCAT
AGGTG
TG TAG
TA CTAAGTGTACACGTA
GC ATTCACATGTGCAT
ATTCACATGTGCAT

DNA Sequence
Human Genome Project
sequencing the human genome

What does sequencing mean?

To determine the order of the nucleotides in the human DNA
molecules
Human DNA molecules are our chromosomes
Each chromosome is a DNA double helix
Each DNA double helix is two single DNA molecules intertwined
Each single DNA molecule is a chain of nucleotide units
Sequencing is the method to determine what the exact order of
units is in this chain

Gene
Expression

DNA
Gene
Transcription
RNA (messenger RNA)

Translation

Protein
(sequence of
amino acids)

Functioning of proteins within living

cells influences an organisms traits.

A Gene is a Transcription Unit

Promoter & Regulatory

sequences

Terminator

Coding sequences

DNA

Transcription

mRNA 5

3
Start
codon

Ribosome binding site

Open
reading
frame

Stop
codon

Transcription
Coding

Overview of gene expression

AC

Translation

Translation Elongation
aa-tRNA entry

Peptidyl
transferase
Translocation

Termination

Translation

The code is 3 letter words, but what about

punctuation?
cbab

GROWANDNOWTHECATSAWTHEDOGBUTDIDNOTRUNENDSEW

Code written in three letter words - codons

Ribosomes must start at the right place to read
the message
There are three frames, but only one is read to
give an intelligible message
Need a start codon (NOW) and a stop codon
(END) to define the frame to use
frame b
NOW THE CAT SAW THE DOG BUT DID NOT RUN

Reading Frames & Mutation Types

Frame shift mutations
Original reading frame is frame a
Insertions or deletions shift the reading frame

a
b
c

a
b
c

ROWANDNOWTHECATSAWTHEDOGBUTDIDNOTRUNENDSEW

ROWNDNOWTHECATSAWTHEDOGBUTDIDNOTRUNENDSEW

Reading Frames & Mutations

a
b
c

ROWANDNOWTHECATSAWTHEDOGBUTDIDNOTRUNENDSEW

Once a ribosome begins translation in a particular

frame (a) it does not shift frames
Therefore, if a mutation shifts the reading frame in
the mRNA, the ribosome will read the wrong frame.

a
b
c

ROWANDNOWTHECATSAWTHEADOGBUTDIDNOTRUNENDSEW

NOWTHECATSAWTHEADOGBUTDIDNOTRUNENDSEW..

Reading Frames & Mutations

a

ROWANDNOWTHECATSAWTHEDOGBUTDIDNOTRUNENDSEW

A change that creates a stop codon is a

non-sense mutation
Generates a truncated protein
^^

ROWANDNOWTHECATSAWTHEDOGBUTENDNOTRUNENDSEW

NOWTHECATSAWTHEDOGBUTEND

Reading Frames & Mutations

a

ROWANDNOWTHECATSAWTHEDOGBUTDIDNOTRUNENDSEW

A change that creates a different codon is a

mis-sense mutation
Generates a protein with an altered
sequence
^

ROWANDNOWTHECATSAWTHEHOGBUTDIDNOTRUNENDSEW
NOWTHECATSAWTHEHOGBUTDIDNOTRUNEND

Molecular Basis of Phenotype

Effect of Mutations
Sickle cell disease
single nucleotide change AT