12-4 Mutations

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Do Now::

Do Now: Replicate this DNA strand: CATCGG 2. Transcribe this DNA strand in to RNA: CATAGG 3. Write 3 differences between DNA and RNA


What do all of these have in common ?


What do all of these have in common ? They are all Mutants!


Super Power : Spinning/shooting webs . MUTATION : MaSp1 and MaSp2 genes: can produce spider silk proteins Spinning/shooting webs requires extra glands and genes Cause of Mutation: Peter Parker was bitten by an radioactive spider ,


Super Power: Super Regeneration and Retractable Claws Assessment : Regeneration possible but speedy rate unlikely Retractable bones: found in Japanese Otton frog No known gene for regeneration or retractable claws . Cause of Mutation: Birth? Gene X


Super Power: Super Speed Assessment : ACTN3 gene + increase in adrenaline = increased speed . Cause of Mutation: Chemical bath + lightning


SUPER POWER: Super Strength Assessment : super strength from increased testosterone and adrenaline Genes for slight radiation resistance have been found . C ause of mutations: Gamma radiation from botched lab experiment


Super Power: Super Strength and Endurance Assessment: endurance gene found in many Olympians + increase in testosterone = slightly superhuman characteristics . Origin of Mutations: USA Super Soldier Experiment

Good vs. Bad Mutations:

Good vs. Bad Mutations Mutations can be good as well as bad. - A good mutation could lead to a change in a protein that allows an animal to run faster or see better. - A bad mutation could lead to a change in a protein that causes a genetic disease that is harmful to the organism such as cancer or blood problems.


Examples Neutral: Blue eyes was caused by a mutation that first appeared 6-10 thousand years ago! Harmful: An albino person has a frameshift mutation in melanin producing genes. Albinism makes organisms more susceptible to skin cancer. Beneficial: Mutations in the CCR5 gene in humans makes them almost immune to HIV!


A mutation in the thumb joint changed it to an opposable thumb = positive mutation!


Mutations -A mutation is a change in DNA sequence (order of nucleotides). -Mutations are important because they increase genetic variation. -Mutations in body cells cannot be passed on to your children, however, they can cause cancer or other problems in your body. -Mutations in sex cells (sperm and egg cells) can lead to changes in the DNA sequence which will can be passed down to a person’s children. Why are Mutations Important? Because they increase genetic variation!


ERRORS = MUTATION Mutations can occur naturally or through environmental factors. Environmental mutagens include some chemicals (food additives, pesticides, plastics) and radiations (X-rays to UV light).


Mutagens Environmental Mutations: A mutagen is something that causes a mutation. Ex: radiation, chemicals, high temp. Why are Mutations Important? Because they increase genetic variation


ERRORS = MUTATION Natural Mutations: gene mutation is a change of one or more nucleotides in a single gene. There are 2 types. Point Frameshift

GENE MUTATIONS: #1 Point mutation:

GENE MUTATIONS : #1 Point mutation - Point mutation- a change in one base pair in a DNA sequence. -A point mutation can cause an amino acid to change, which will change the structure of the protein being made. Example: |AUG| =Met |AAG| =Lys -Only one letter was changed (the A to a U) and the entire amino acid changed (from methionine to lysine).

Point Mutation:


Picture of A Point Mutation:

Picture of A Point Mutation Normal Point mutation mRNA Protein Stop Stop mRNA Protein Replace G with A Why are Mutations Important? Because they increase genetic variation


Sickle cell anemia Result : red blood cell changed from round shape to sickle (crescent) shape Gets stuck on walls of blood vessels & can cause clog Example of Point Mutations


Cystic fibrosis Point mutation : aa glutamine becomes STOP codon Example of Point Mutations Causing a protein to produce too much mucus which blocks the lungs which causes infections

GENE MUTATIONS: #2 Frameshift mutation:

- Frameshift mutation -adding or deleting nucleotides to a DNA sequence. Q)-Is a frameshift worse than a point mutation? Example: DNA: | ATT | AAA | CCG | TTA | | ATA | AAC | CGT | TA…| GENE MUTATIONS : #2 Frameshift mutation Delete this T A) A frameshift mutation is much worse than a point mutation because it causes the entire DNA sequence to be shifted over!

Example of Frameshift Mutations:

Example of Frameshift Mutations

Frameshift: Deletion:

Frameshift: Deletion The original: THE DOG BIT THE CAT Deletion: THE DOG BIT HEC AT

Frameshift: Insertion:

Frameshift: Insertion The original: THE DOG BIT THE CAT Insertion: THE DO E GBI TTH ECA T


Frameshift Any mutation which causes shift of codon sequences or incorrect amino acid number Caused by two scenarios: Deletion of nucleotide (base) Original: The fat c at ate the wee rat. Mutation: The fat ata tet hew eer at. Insertion of extra nucleotide(s) (base) Original: The fat cat ate the wee rat. Mutation: The fat c a a tat eth ewe erat.


Many diseases caused by frame-shift mutations Huntington’s disease Fragile X Syndrome Muscular Dystrophy Tay -Sachs disease Frameshift Diseases


Huntington’s Disease Huntington’s Normal Mutation : additional CAG in protein Result : early cell death in brain


Fragile X Syndrome Mutation : extra GGG codons inserted on X chromosome Result : intellectual disability in males normal


Muscular dystrophy Mutation : extra CTG or CCTG in muscle protein Result : deteriorating (weakening) muscles


Tay-Sachs Disease Mutation : insertion of TACT in exon 11 Result : enzyme that breaks down fat in the brain & spinal cord allowing. This allows fat to grow on brain & spinal cord, permanently damaging cells & killing child before age 5.

Difference between a point mutation and a frameshift mutation.:

Difference between a point mutation and a frameshift mutation.


Questions: Is this a point mutation or a frameshift mutation? -It’s a point mutation because only one nucleotide changed!


Questions: THE DOG BIT THE CAT THE DOG BIT THE CAR Point or frameshift? Point!


Questions THE DOG BIT THE CAT THE DOB ITT HEC AT Point or frameshift? -frameshift

All mutations are harmful.:

All mutations are harmful. True False False!


Why are Mutations Important? Because they increase genetic variation Last Question!


People With Real Mutant Superhero Powers 1. Liam Hoekstra, the Incredible Hulk Toddler ——————————————————————                                                                                                                                                                                      


When he was just two days old he could… already walk, and at the age of three he could lift his parents sofa. His condition doesn’t make him extremely bulky as the HULK, but his skeletal muscles are in fact 40% stronger then the rest of us mere mortals. Liam Hoekstra, the Incredible Hulk Toddler


Liam’s extremely rare genetic disorder… called : myostatin related muscle hypertrophy ,  blocks the production of a protein called myostatin that normally limits muscle growth. While a disorder to some, others might consider his situation as being blessed, since there are no known downsides to this condition.


Multiple hot dog-eating contest champion, Takeru Kobayashi attributes some of his unique "ability" to the fact that his stomach sits far lower than that of the average human, thus giving it more room to expand upwards.  Ability to Eat Many Hot Dogs! Kobayashi set the world record at the Taco Challenge by eating 130 tacos in 10 minutes. Kobayashi set the new world record at the  Texas State Fair  for eating 60 hot dogs in 2 minutes 35 seconds.



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