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MutatioMutationsns
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What Are Mutations?
A change in the structure or amount of an organisms genetic material
This mutation can be a tiny change in DNA structure or can be a large scale change in chromosome structure or number
When a change in genotype produces a change in phenotype, then the mutation is apparent
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What Are Mutations?What Are Mutations?
• Changes in the nucleotide sequence of DNA
• May occur in somatic cells (aren’t passed to offspring)
• May occur in gametes (eggs & sperm) and be passed to offspring
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Frequency of Mutation
• In the absence of outside influences, gene mutations arise spontaneously .
• Mutation rate varies from species to species, allele to allele.
• Most mutant alleles are recessive-expressing themselves when two recessive alleles meet in future generations.
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Are Mutations Helpful or Harmful?
• Mutations happen regularly
• Almost all mutations are neutral
• Chemicals & UV radiation cause mutations
• Many mutations are repaired by enzymes
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Are Mutations Helpful or Harmful?
• Some type of skin cancers and leukemia result from somatic mutations
• Some mutations may improve an organism’s survival (beneficial)
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Types of Mutations
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Chromosome Mutations
• May Involve:– Changing
the structure of a chromosome
– The loss or gain of part of a chromosome
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Chromosome Mutations
• Five types exist:–Deletion– Inversion–Translocation–Nondisjunction
–Duplication
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Deletion
• Due to breakage• A piece of a
chromosome is lost
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Inversion
• Chromosome segment breaks off
• Segment flips around backwards
• Segment reattaches
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Duplication
• Occurs when a gene sequence is repeated
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Translocation
• Involves two chromosomes that aren’t homologous
•Part of one chromosome is transferred to another chromosomes
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Translocation
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Nondisjunction
•Failure of chromosomes to separate during meiosis
• Causes gamete to have too many or too few chromosomes
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Chromosome Mutation Animation
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Gene Mutations
• Change in the nucleotide sequence of a gene
• May only involve a single nucleotide
• May be due to copying errors, chemicals, viruses, etc.
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Types of Gene Mutations
• Include:–Point Mutations–Substitutions– Insertions–Deletions–Frameshift
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Point Mutation
• Change of a single nucleotide
• Includes the deletion, insertion, or substitution of ONE nucleotide in a gene
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Point Mutation
•Sickle Cell disease is the result of one nucleotide substitution
• Occurs in the hemoglobin gene
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Frameshift Mutation
• Inserting or deleting one or more nucleotides
• Changes the “reading frame” like changing a sentence
•Proteins built incorrectly
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Frameshift Mutation
• Original:–The fat cat ate the wee rat.
• Frame Shift (“a” added):– The fat caa tet hew eer at.
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Amino Acid Sequence Changed
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Gene Mutation Animation
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