1. 8.7 Mutations TEKS 6E The student is expected to: 6E identify and illustrate changes in DNA and evaluate the significance of these changes

2. 8.7 Mutations TEKS 6E KEY CONCEPT Mutations are changes in DNA that may or may not affect phenotype.

3. 8.7 Mutations TEKS 6E 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. mutated base

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

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

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

7. SILENT: NO changes in amino acid

8. 8.7 Mutations TEKS 6E 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 Insertion Original DNA: The fat cat ate the rat. Mutant DNA: The fat cat tat eth era t. (insertion)

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

11. 8.7 Mutations TEKS 6E Chromosomal mutations affect many genes. –Chromosomal mutations affect many genes. –Gene duplication results from unequal crossing over. Chromosomal mutations may occur during crossing over

12. 8.7 Mutations TEKS 6E Translocation results from the exchange of DNA segments between nonhomologous chromosomes.

13. c.Can change the locations of genes on chromosomes i.Inversion: reverses the direction of parts of the chromosomes ii.Translocation: part of one chromosome breaks off and attaches to another. Original Chromosome Inversion Translocation 2.Chromosomal mutations: involve changes in the number or structure of the chromosomes.

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

15. 8.7 Mutations TEKS 6E 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. blockage no blockage

16. 8.7 Mutations TEKS 6E 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. 8.7 Mutations TEKS 6E 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. 8.7 Mutations TEKS 6E 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.