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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
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 • 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 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 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 • 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)
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.