Mutations.

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Defined: any change in an organism’s DNA Where: Single genes or entire chromosomes – Some gene mutations change phenotype (physical characteristics)

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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. Example: Could be silent or occur in a non-coding region When: Throughout the life of the cell

Gene: Point Mutations A C A G T G T G T C A A A U G U C A A C C A G U DNA U G U C A A C C A G U U U mRNA Amino acids cysteine histidine glutamine glutamine phenylalanine 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)

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 C A G T T G T C A A A C DNA U G U C A A C A G U U U G mRNA Amino acids cysteine glutamine histidine glutamine serine phenylalanine leucine 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”

Gene: Frame Shift Mutation C A G T C G G T C A A A DNA U G U C A G C C A G U U U mRNA cysteine histidine glutamine phenylalanine Amino acids glutamine proline valine

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 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)

Example: ATTCGAGG is mutated to ATTCGTGG 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.