Understanding Mutations: Types and Impact

1. Mutations

2. What Are Mutations? • Changes in the nucleotide sequence of DNA • May occur in somatic cells (aren’t passed to offspring) • May occur in gametes (eggs & sperm) and be passed to offspring

3. Are Mutations Helpful or Harmful? • Most mutations are neutral, but • Some are harmful like skin cancers and leukemia • Some are beneficial and improve an organism’s survival

4. Gene Mutations • Change in the nucleotide sequence of a gene • May only involve a single nucleotide • May be due to copying errors, chemicals, uv radiation, viruses, etc.

5. Types of Gene Mutations • Include: • Point Mutations • Substitutions • Insertions • Deletions • Frameshift

6. Point Mutation • Change of a single nucleotide • Includes the deletion, insertion, or substitution of ONE nucleotide in a gene

7. Point Mutations - Change of a single nucleotide • Deletion – a nucleotide is removed from the DNA sequence • Insertion – a nucleotide is added to the DNA sequence • Substitution – a nucleotide base is swapped out with a different nucleotide base

8. Point Mutation • Sickle Cell disease is the result of one nucleotide substitution • Occurs in the hemoglobin gene

10. SUBSTITUTION(one base is substituted for another) • MISSENSE mutation – when a substitution changes the amino acid • SILENT mutation – when a substitution does not change the amino acid • NONSENSE mutation – when a substitution changes the amino acid to a “stop”

11. Frameshift Mutation • Inserting or deleting one or more nucleotides • Changes the “reading frame” like changing a sentence • Proteins built incorrectly

12. Frameshift Mutation • Original: • The fat cat ate the wee rat. • Frame Shift (“a” added): • The fat caa tat eth ewe era t.

13. Amino Acid Sequence Changed

14. Gene Mutation Animation