Introduction
Video has been updated here: youtu.be/vl6Vlf2thvI Music used with permission from Adrian Holovaty (www.youtube.com/adrianholovaty). This video has a handout here: www.amoebasisters.com/handouts.html
We appreciate the feedback we get for clarification or improvements on our videos. At 2:11, we try make the A (adenine) base look upset now that the complementary base T (thymine) has been replaced with a G (guanine) in a point mutation. But we wish we had put more distance between the cartoon bases to clarify, that now, they cannot bond in this way. Note: This can sometimes be fixed by a polymerase in proofreading- but if not fixed- the G may be be matched with a C and the mutation will remain. You may enjoy our updated mutation GIF: twitter.com/AmoebaSisters/status/930472869343191041
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Content
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Do you think of when you think of the word mutation? Do, you think about X-men and some really awesome.
Ability? Or...the, ninja, turtles? We loved the ninja turtles when we were little! We might be showing our age a little bit..
But mutations are really not that glamorous.
Most people understand that a mutation is a change of genetic material---more, specifically a nucleic acid., RNA and DNA are both types of nucleic acids.
So.
How does a change happen? Remember that in DNA, the base adenine (A) goes with thymine (T).
And the base? Cytosine (C) goes with Guanine (G).
And, that’s all good.
But what happens if the wrong base matches up? Many things can cause an error like that----external factors like chemicals and radiation…or internal things like something goes wrong during DNA replication in interphase, which is a stage that prepares cells to divide during mitosis.
Now.
While these things can increase the chance that a mutation is going to happen, it is important to understand that mutations are random.
If, a mutation is going to be a helpful thing for an organism---which is rare, as very few are helpful----.
It can’t just “will” itself.
The get that mutation.
An organism can't just "will" itself to get this.
It's.
Definitely not like X-men either.
More about that in natural selection.
Many mutations are actually neutral in their effect.
Meaning.
They neither help nor harm an organism.
And.
Some mutations are harmful.
So we're going to talk about the different kinds of mutations.First.
We're going to talk about gene mutations., So DNA makes up genes.
And genes code for proteins that influence different traits.
So.
When DNA has changes----aka a mutation----then, different proteins can be produced and this can affect an organism’s traits.
So.
Let's look at the gene, mutations.
So, first, substitution.That means you have the wrong base.
Matched.
So, instead of A with T...you, can have A with G.
Scandalous.
You can have an insertion, which means an extra base.
(Or bases) are added, in.
You can have a deletion, which means a base is removed.
Insertions and deletions.
Have the potential to be especially dangerous because remember in protein synthesis, we talked about how bases are read in threes? Well.
If you add a base or remove a base.
Suddenly, the number of bases total has changed, right? So.
If you read in threes---depending on where it happened---- everything that is read afterwards, could get really messed.
Up.
We call this a frameshift.
Now.
These were all types of gene mutations, but we also have something called chromosome mutations.
Remember, that chromosomes are made up of DNA and protein----highly organized---and.
They have lots of genes on them.
All of the body cells in your body.
Each have 46, chromosomes., Human, sperm and egg cells have 23 chromosomes.
Well changes can occur at that large chromosome scale, too.
So.
Let's talk about these chromosome mutations.
Just, like insertion in a gene mutation---where bases can get added-----you have something called duplication in chromosomes.
These are mutations where extra copies of genes are generated.
So extra copies of that chromosome are generated.
There is deletion, where some of the genetic material from the chromosome breaks, off.
Inversion---when, a broken chromosome segment gets inversed.
(Which means reversed) and put back on the chromosome.
Or translocation (we weren’t kidding back when we said there are a lot of “trans” words in biology)---that’s when a fragment from one chromosome breaks off and attaches to another chromosome.
There’s more mutations than what we covered.
But the idea is that there are many kinds of different changes that can happen.
If.
A mutation is going to happen.
There are vulnerable times like when DNA replication happens during interphase and also other times too…like meiosis.
In humans, meiosis produces sperm and egg cells that have 23 chromosomes.
But, sometimes those chromosomes, when they're separating, don't separate completely.
We call this nondisjunction.
This results in an egg or sperm that has too many or too few chromosomes…and that can cause a genetic disorder depending on which chromosome we’re talking about.
Different chromosomes contain different genes.
So the specific chromosome that is affected does make a difference.
In the result.
Let’s talk about some real life examples of mutations.
Remember.
We said that a lot of times, mutations can have a neutral effect.
Not.
All of your DNA codes for a direct protein and other genes in your body can influence whether genes will even be turned on or turned off.
Let’s talk about sickle cell anemia.
First-.
A little background.
Hemoglobin is a protein in your red blood cells that helps you carry oxygen.
Well in the disorder, sickle cell anemia, the gene that codes for hemoglobin is mutated.
If.
You inherit two copies of this mutated gene (one from each parent).
You can have this disorder.
This disorder can make it difficult for your red blood cells to carry oxygen because the shape of the red blood cell is affected from this mutated hemoglobin protein.
This can lead to anemia and other problems.
But get this---if.
You inherit one copy of the mutated gene from one parent.
You are a carrier, but you don’t officially have the disease.
Usually.
You do not have symptoms.
But.
Those that are carriers appear to have a protective factor against malaria.
Malaria is a disease caused by a protist that can be transmitted by mosquitoes.
These individuals can still get malaria, but usually their symptoms are less severe.
So, in a way.
This one copy of a mutation can be an advantage if you happen to live in an area where malaria is really present.
Studying mutations and genetic disorders is a huge field right, now.
If, this kind of thing interests you.
There are a lot of careers to look into., In fact, there's a career known as a genetic counselor.
They work to help families that may be at risk or affected by genetic disorders.
They do a lot of good in the world.
Well.
That's it for the amoeba sisters and we remind you to stay curious!.
FAQs
(OLD VIDEO) Mutations: The Potential Power of a Small Change? ›
Point Mutations
A point mutation is a change in a single nucleotide in DNA. This type of mutation is usually less serious than a chromosomal alteration.
Point Mutations
A point mutation is a change in a single nucleotide in DNA. This type of mutation is usually less serious than a chromosomal alteration.
At the short end of the spectrum, indels of one or two base pairs within coding sequences have the greatest effect, because they will inevitably cause a frameshift (only the addition of one or more three-base-pair codons will keep a protein approximately intact).
What mutation causes the greatest change? ›Answer and Explanation: The type of mutation that is likely to have the greatest effect on a protein is B. Nonsense mutation. This is because a nonsense mutation creates a premature stop codon, leading to an incomplete formation of a protein, severely affecting protein structure and function.
What are the 4 types of mutation? ›In Summary: Major Types of Mutations
Mutations can be of many types, such as substitution, deletion, insertion, and translocation.
Small-scale mutations are a type of mutation where one or few nucleotides of a gene are affected. These are further classified into substitution mutations, insertions, and deletions.
What are the three 3 types of mutations? ›There are three types of DNA Mutations: base substitutions, deletions and insertions. Single base substitutions are called point mutations, recall the point mutation Glu -----> Val which causes sickle-cell disease. Point mutations are the most common type of mutation and there are two types.
Which of the following mutations is potentially the most harmful? ›Answer and Explanation: A nonsense mutation would do the most harm of all of these types of mutations. A nonsense mutation is a mutation which causes the ending of a coding sequence, by changing an mRNA nucleotide to one which changes the codon from a coding codon to a stop codon.
Which type of mutation is usually more harmful and why? ›Because an insertion or deletion results in a frame-shift that changes the reading of subsequent codons and, therefore, alters the entire amino acid sequence that follows the mutation, insertions and deletions are usually more harmful than a substitution in which only a single amino acid is altered.
Which type of mutation has the highest mutation rate? ›The highest per base pair per generation mutation rates are found in viruses, which can have either RNA or DNA genomes.
What is the most common mutation? ›
In fact, the G-T mutation is the single most common mutation in human DNA. It occurs about once in every 10,000 to 100,000 base pairs -- which doesn't sound like a lot, until you consider that the human genome contains 3 billion base pairs.
Which 3 of the following are known causes of mutations? ›Mutations can result from errors in DNA replication during cell division, exposure to mutagens or a viral infection.
What is the rarest type of mutation? ›- Hutchinson-Gilford Progeria Syndrome (HGPS) Frequency: Occurs in 1 in 4 million newborns worldwide. ...
- Alkaptonuria. Frequency: Occurs in 1 in 250,000 -1,000,000 live births. ...
- Ribose-5-phosphate isomerase deficiency. ...
- Ogden syndrome. ...
- KAT6A syndrome.
There are three possible outcomes from a mutation event: (i) the mutant spreads through the population and replaces the residents, (ii) the mutants coexist with the residents, or (iii) the mutants go extinct.
What are the 6 mutations? ›Six new mutations have been identified in the CFTR gene. These mutations, representing three different categories--missense (R31L, W1098R), nonsense (E1104X), and frameshift (441delA, 681delC, 1461ins4)--are located in exons 2, 4, 5, 9, and 17b of the gene and presumed to cause cystic fibrosis (CF) in patients.
What is any agent that causes a mutation called? ›A mutagen is a chemical or physical agent capable of inducing changes in DNA called mutations. Examples of mutagens include tobacco products, radioactive substances, x-rays, ultraviolet radiation and a wide variety of chemicals.
What mutation causes a minor change in the amino acid sequence? ›Missense Mutation
A missense mutation is a DNA change that results in different amino acids being encoded at a particular position in the resulting protein. Some missense mutations alter the function of the resulting protein.
Major mutations are predominantly located in the active site of the HIV-1 protease and can directly interfere with inhibitor binding. Minor mutations, in contrast, are typically located distal to the active site.
What is a mutation that causes a change in DNA sequence? ›A gene variant is a permanent change in the DNA sequence that makes up a gene. This type of genetic change used to be known as a gene mutation, but because changes in DNA do not always cause disease, it is thought that gene variant is a more accurate term.
What causes a mutation child development? ›A gene can mutate because of: a change in one or more nucleotides of DNA. a change in many genes. loss of one or more genes.