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Frameshift Mutations

Fidaa Janoudi

Essential Questions
How

do changes in the genetic material of


organisms influence phenotypes?

What

can those phenotypic changes teach


us about Evolution?

How can a frame shift in DNA


cause Fragile X Syndrome?

Vocabulary Terms

Insertion mutation

Deletion mutation

Frameshift mutation

Reading frame

Key Concept
Biologists can now often connect the dots
all the way from classic morphological and
physiological traits in plants and animals to
specific changes in the atoms of the DNA
double helix (Kingsley, 56).

Frameshift Mutations
Mutations that lead up to an alter in the
reading frame of a sequence.
Two major types:
Insertion mutations
Deletion Mutations

Maladaptive Mutation- hurts the protein


production during translation of mRNA.

Frame Shift Mutations- Effects


Changing

the order of the nucleotide sequences means to change


the order of the lettered codons.

Codons

are what allow for amino acids to get together and form
proteins.

Messing
Wrong

up codon order messes up amino acid specificity.

amino acid creates a new not needed protein.

Sometimes,
*All

frameshifts can alter with the way an organism looks.

occurring with mRNA*

Usually

hurtful to an individuals phenotype

Popular Analogy
ONE MAN CAN RUN SIX LAP
Insertion
DON EMA NCA NRU NSI XLA P
Deletion
ONM ANC ANR UNS IXL AP

Details: Insertions

Insertion is when an extra


nucleotide is added to the
DNA sequence.
This alters the way the
gene sequence looks.
This can happen when the
replicating strand slips or
wrinkles, which allows the
extra nucleotide to be
incorporated (Nature
Education).

Detail: Deletions
Deletion is when a single
nucleotide is removed from
the DNA sequence.
This alters the way the gene
sequences looks.
Adeletion mutationoccurs
when a wrinkle forms on the
DNA template strand and
subsequently causes a
nucleotide to be omitted
from the replicated strand
(Nature Education).

Fragile X Syndrome

Genetic disorder that is hurtful to an individuals


development.

Usually impairs learning abilities and messes with the


brain. (memory, concentration, and decision making)

This genetic disease usually occurs with males, but some


females are prone to getting it too.

Such phenotypical changes include..

Long and narrow face, large ears, noticeable jaw and


forehead, flexible fingers, and flat feet.

Fragile X Syndrome- Causes

Occurs as a mutation in a gene called FMRI.

When FMRI is being produced, a protein called FMRP is


created to prevent mental illnesses.

CGG codon is inserted with repetition.

On average, codon should repeat about 5-40 times.


An insertion causes it to repeat more than 200 times, frame
shifted to the max.

This genetic disease is an X- linked dominant pattern.


The reason why it is more visible in males.

Connection to Evolution
V- The frameshifting allows for more probability of different
phenotypes, keeping variation in tact.
I- When the mutations occur in the DNA, they stay as part of the
organisms genome and get passed down (inherited) to future offspring.
S- While there may be more phenotypes to choose from, different
environments still select for and favor different phenotypes.
T- Over time, mutations can change the frequency of population alleles.
A- When mutations create new phenotypes for different organisms,
organisms are forced to adapt to their environment in order to survive
and reproduce.

Works Cited
Campbell, Neil A. Biology: Concepts & Connections. New York: Pearson
Learning Solutions, 2009. Print.
"DNA Is Constantly Changing Through The Process of Mutation."
Nature.com. Nature Publishing Group, n.d. Web. 03 Apr. 2015.
"Fragile X Syndrome." Genetics Home Reference. US National Library of
Medicine, Apr. 2012. Web. 08 Apr. 2015.
Kingsley, David M. "From Atoms to Traits." (2009): n. pag. Rpt. in
Scientific American. N.p.: n.p., n.d. 52-59. Print.

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