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Mutations - PowerPoint PPT Presentation


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Mutations. Mutations. Defined : any change in an organism’s DNA Where: Single genes or entire chromosomes Some gene mutations change phenotype (physical characteristics) Example: Can cause a premature stop codon Some gene mutations don’t change phenotype.

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Mutations

  • Defined: any change in an organism’s DNA
  • Where: Single genes or entire chromosomes
    • Some gene mutations change phenotype (physical characteristics)
      • Example: Can cause a premature stop codon
    • Some gene mutations don’t change phenotype.
      • Example: Could be silent or occur in a non-coding region
  • When: Throughout the life of the cell
gene point mutations
Defined: one nucleotide is substituted for another

Often repaired by spellchecker enzyme

May lead to amino acid change

See animation

May not lead to any change (Silent Mutation)

Ex: DNA “CCC” is mutated into “CCG”

Same amino acid is created (glycine)

Gene: Point Mutations

T

A

C

A

G

T

G

G

T

C

A

A

A

DNA

U

G

U

C

A

C

A

C

A

G

U

U

U

mRNA

cysteine

glutamine

histidine

glutamine

phenylalanine

Amino acids

point mutation and sickle cell disease
Point Mutation and Sickle Cell Disease
  • Hemoglobin (protein) is made from 574 amino acids
  • Sickle cell disease is caused because of 1 wrong amino acid
gene frame shift mutation
Gene: Frame Shift Mutation

C

A

C

A

G

T

T

G

T

C

A

A

A

DNA

  • Defined: insertion/deletion of a nucleotide
  • Entire sequence of DNA/RNA after the mutation is shifted (see animation)
  • Much more serious to the structure/function of the final protein
    • mRNA sequence may have an early or late “stop codon”

G

U

G

U

C

A

A

C

A

G

U

U

U

mRNA

cysteine

glutamine

glutamine

phenylalanine

Amino acids

histidine

serine

leucine

gene frame shift mutation1
Gene: Frame Shift Mutation

C

A

C

A

G

T

G

G

T

C

A

A

A

DNA

U

G

U

C

A

C

C

A

G

U

U

U

G

mRNA

histidine

glutamine

phenylalanine

cysteine

Amino acids

glutamine

proline

valine

impact on offspring
Impact on Offspring
  • Somatic cell mutations
    • Affect only the individual
    • Not passed on to future generations
    • Ex: Muscle cell mutation
  • Germ cell mutations
    • Germ cells = the diploid cells that undergo meiosis to make sperm & egg
    • May be passed to future generations

If the mutated sperm above were to fertilize this egg…

mutation causes
Mutation Causes
  • Mutagen: agents in the environment that can change DNA
        • Speed up replication process
        • Break apart nucleotides
  • Ex: UV from sunlight breaks hydrogen bond between thymine (T) and adenine (A)
review
Review
  • How are proteins affected if the DNA code is mutated?

Example: ATTCGAGG is mutated to ATTCGTGG

  • What is the difference between a point mutation and frame shift mutations?
  • When are mutations passed on to future generations?
  • What are germs cells?
  • What is a mutagen and how do they cause problems?
  • Are all mutations considered bad/dangerous? Explain.