mutations - ms pempengco's class site · lethal mutations: mutations that are so damaging that...
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Mutations
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A gene mutation is a change in the sequence of bases that make up the gene
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Three Causes of Mutations:
Errors in Replication× This occurs very rarely due to DNA
polymerase which proofreads the new strand to make sure it’s not missing a nucleotide/replaces false nucleotides
× 1 in 100, 000 nucleotides are added incorrectly
× 1 in 1, 000, 000, 000 pairs go unfixed
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Three Causes of Mutations:
Mutagens× Environmental influences (mutagens)
cause mutations× Ex) radiation, X-rays, UV radiation,
organic chemicals (cigarettes, pesticides)
× DNA repair enzymes prevent drastic irregularities
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Three Causes of Mutations:
TransposonsDNA sequences that are able to move within and between chromosomesTheir movement may alter nearby genes (alters their degree of expression)Studied in corn (purple kernels)Also known as Jumping genes
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Note me: Inherited vs Developed
Why are some mutations inherited and some developed?
Germ line mutations: occur in reproductive cells (sperm and egg). Passed onto offspring.
Which heroes would be examples of Germ line mutations?
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Note me: Inherited vs Developed
Somatic mutations: occur in body cells. NOT passed onto offspring. pring.
Which heroes would be examples of somatic mutations?
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Note me: Inherited vs Developed
Somatic mutations: occur in body cells. NOT passed onto offspring. pring.
Which heroes would be examples of somatic mutations?
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Note me: Inherited vs Developed
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Two types of Mutations:
Frameshift MutationsWhen one or more nucleotides are deleted or inserted into the DNA (causes codons to shift)Ex) THE CAT ATE THE RAT without the C it reads…THE ATA TET HER AT
Why isn’t it THE AT ATE THE RAT?
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Two types of Mutations:
Point Mutations
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Two types of Mutations:
Point Mutations× Nucleotides are substituted for each
other× These may or may not cause major
changes× There are 3 different types of point
mutations
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Point Mutations:
× Silent Mutation- If the C in UAC is substituted for a U we will get the combination UAU. UAC & UAU are both codons for the same amino acid (tyrosine)
× It causes no change to the protein created so it is “silent”
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Point Mutations:
Nonsense Mutation- When a codon is turned into a stop codonUAC is changed to UAG (stop) it could cause dramatic changes
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Point Mutations:
Missense Mutation- affects the shape of the protein.When synthesizing a hemoglobin amino acid chain, a valine amino acid is created instead of a glutamate amino acid. This causes the hemoglobin to have a sickle shape causing them to clog inside of vessels (Sickle Cell Disease)
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Point Mutations:
Missense Mutation- affects the shape of the protein.
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Note me: Sickle Cell Anemia
Missense Mutation- affects the shape of the protein.× This gene also gives a person
carrying it an increased resistance to malaria.
× It is believed that this gene persisted because it results in a greater resistance to a different and serious disease.
× MUTATIONS CAN ALSO BE GOOD!
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Note me: Effects on Individuals
Loss – of – function mutations: mutations resulting in a protein product that has little or no normal function in the cell.
Gain-of-function mutations: the function gained may not be beneficial to the cell.
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Note me: Effects on Individuals
Lethal mutations: mutations that are so damaging that the cell or organism dies as a result of its occurrence.
Morphological mutations: cause a change in the outward appearance of the cell or organism.
Example: Colour or shape of an organism.
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Note me: Effects on Individuals
× Mutations are able to create new alleles/ phenotypes for genes
× This allows for genetic diversity
× Genetic diversity is important in maintaining biodiversity