KEY CONCEPT Mutations are changes in DNA that may or may not affect phenotype.

1. The student is expected to:6E identify and illustratechanges in DNA and evaluate the significance ofthese changes

2. KEY CONCEPT Mutations are changes in DNA that may or may not affect phenotype.

3. mutated base Some mutations affect a single gene, while others affect an entire chromosome. • A mutation is a change in an organism’s DNA. • Many kinds of mutations can occur, especially during replication. • A point mutation substitutes one nucleotide for another.

4. Substitutions: where one base is changed to another. These usually affect only one amino acid.

5. MISSENSE: only changes one amino acid Original DNA: The fat cat ate the rat. Mutant DNA: The fat hat ate the rat. (substitution) Substitution

6. : Changes a stop codon to appear too soon, shortening the protein

7. SILENT: NO changes in amino acid

8. Many kinds of mutations can occur, especially during replication. • A frameshift mutation inserts or deletes a nucleotide in the DNA sequence.

9. These usually affect a large part of the protein. Remember, bases are read in groups of three, but if one base is added or removed, this shifts the “reading frame” of the genetic code and can change all amino acids after the site of the mutation Original DNA: The fat cat ate the rat. Mutant DNA: The fat cat tat eth era t. (insertion) Insertion

10. Deletion TAG CAT GGA AT AUC GUA CCU UT Ile Val Pro

11. Chromosomal mutations affect many genes. • Chromosomal mutations may occur during crossing over • Chromosomal mutations affect many genes. • Gene duplication results from unequal crossing over.

12. Translocation results from the exchange of DNA segments between nonhomologous chromosomes.

13. Can change the locations of genes on chromosomes Inversion: reverses the direction of parts of the chromosomes Translocation: part of one chromosome breaks off and attaches to another. • Chromosomal mutations: involve changes in the number or structure of the chromosomes. Original Chromosome Inversion Translocation

14. Can change the number of copies of some genes Deletion: a part of the chromosome is lost Duplication: there is an extra copy of part of the chromosome Original Chromosome Deletion Duplication

15. blockage no blockage Mutations may or may not affect phenotype. • Chromosomal mutations tend to have a big effect. • Some gene mutations change phenotype. • A mutation may cause a premature stop codon. • A mutation may change protein shape or the active site. • A mutation may change gene regulation.

16. Some gene mutations do not affect phenotype. • A mutation may be silent. • A mutation may occur in a noncoding region. • A mutation may not affect protein folding or the active site.

17. Mutations in body cells do not affect offspring. • Mutations in sex cells can be harmful or beneficial to offspring. • Natural selection often removes mutant alleles from a population when they are less adaptive.

18. Mutations can be caused by several factors. • Replication errors can cause mutations. • Mutagens, such as UV ray and chemicals, can cause mutations. • Some cancer drugs use mutagenic properties to kill cancer cells.