Mutation in genes and DNA, a topic of bioinformatics
- 2. Codon Table
- 3. Review The Central Dogma of Molecular Biology DNA
- 4. Review The Central Dogma of Molecular Biology DNA mRNA
- 5. Review The Central Dogma of Molecular Biology DNA mRNA Proteins CTC
- 6. Review The Central Dogma of Molecular Biology DNA mRNA Proteins CTC GAG
- 7. Review The Central Dogma of Molecular Biology DNA mRNA Proteins CTC GAG Glu
- 8. Review The Central Dogma of Molecular Biology DNA mRNA Proteins CTC GAG Glu CAC
- 9. Review The Central Dogma of Molecular Biology DNA mRNA Proteins CTC GAG Glu CAC GUG
- 10. Review The Central Dogma of Molecular Biology DNA mRNA Proteins CTC GAG Glu CAC GUG Val
- 11. Genetic Mutation • What is a mutation? • A mutation is a change that occurs in our DNA sequence, either due to mistakes when the DNA is copied or as the result of environmental factors such as UV light (google: Thymine dimer) and cigarette smoke.
- 12. Genetic Mutation • Over a lifetime our DNA can undergo changes or ‘mutations’ in the sequence of bases A, C, G and T. • This results in changes in the proteins that are made. This can be a bad or a good thing.
- 13. Genetic Mutation • Mutations can occur during DNA replication if errors are made and not corrected in time. • Mutations can also occur as the result of exposure to environmental factors such as smoking, sunlight and radiation. • Often cells can recognize any potentially mutation-causing damage and repair it before it becomes a fixed mutation.
- 14. Genetic Mutation • Mutations contribute to genetic variation within species. • Mutations can also be inherited, whether they have a positive or a negative effect. • Some well-known inherited genetic disorders include cystic fibrosis, sickle cell anemia and color-blindness, among many others. All of these disorders are caused by the mutation of a single gene.
- 15. Genetic Mutation • For example, the disorder sickle cell anemia is caused by a mutation in the gene that instructs the building of a protein called hemoglobin. This causes the red blood cells to become an abnormal, rigid, sickle shape. • On the contrary, individuals who are carriers for the sickle cell disease have some protective advantage against malaria.
- 16. Genetic Mutation • However, mutation can also disrupt normal gene activity and cause diseases, like cancer. • Cancer is the most common human genetic disease; it is caused by mutations occurring in a number of growth-controlling genes. • Sometimes faulty, cancer-causing genes can exist from birth, increasing a person’s chance of getting cancer.
- 17. Types of Genetic Mutations • Point mutation • Substitution mutation • Inversion mutation • Frame-Shift mutation
- 18. Point Mutation • Point mutation – a change in one base in the DNA sequence.
- 19. Point Mutation – Silent • Point (Silent) mutation – are mutations in DNA that do not have an observable effect on the organism's phenotype. They are a specific type of neutral mutation ATGCATGTA DNA
- 20. Point Mutation – Silent • Point (Silent) mutation – are mutations in DNA that do not have an observable effect on the organism's phenotype. They are a specific type of neutral mutation ATGCATGTA DNA mRNA AUGCAUGUA
- 21. Point Mutation – Silent • Point (Silent) mutation – are mutations in DNA that do not have an observable effect on the organism's phenotype. They are a specific type of neutral mutation ATGCATGTA DNA mRNA AUGCAUGUA Protein Met His Val
- 22. Point Mutation – Silent • Point (Silent) mutation – are mutations in DNA that do not have an observable effect on the organism's phenotype. They are a specific type of neutral mutation ATGCATGTA DNA mRNA AUGCAUGUA Protein Met His Val ATGCACGTA
- 23. Point Mutation – Silent • Point (Silent) mutation – are mutations in DNA that do not have an observable effect on the organism's phenotype. They are a specific type of neutral mutation ATGCATGTA DNA mRNA AUGCAUGUA Protein Met His Val ATGCACGTA AUGCACGUA
- 24. Point Mutation – Silent • Point (Silent) mutation – are mutations in DNA that do not have an observable effect on the organism's phenotype. They are a specific type of neutral mutation ATGCATGTA DNA mRNA AUGCAUGUA Protein Met His Val ATGCACGTA AUGCACGUA Met His Val
- 25. Point Mutation – Non-Sense • Non-Sense mutation – results in a premature stop codon, or a point-nonsense codon in the transcribed mRNA, and in a truncated, incomplete, and usually nonfunctional protein product. ATGTACCATTCTCCT DNA
- 26. Point Mutation – Non-Sense • Non-Sense mutation – results in a premature stop codon, or a point-nonsense codon in the transcribed mRNA, and in a truncated, incomplete, and usually nonfunctional protein product. ATGTACCATTCTCCT DNA mRNAAUGUACCAUUCUCCU
- 27. Point Mutation – Non-Sense • Non-Sense mutation – results in a premature stop codon, or a point-nonsense codon in the transcribed mRNA, and in a truncated, incomplete, and usually nonfunctional protein product. ATGTACCATTCTCCT DNA mRNAAUGUACCAUUCUCCU ProteinMet Tyr His Ser Pro
- 28. Point Mutation – Non-Sense • Non-Sense mutation – results in a premature stop codon, or a point-nonsense codon in the transcribed mRNA, and in a truncated, incomplete, and usually nonfunctional protein product. ATGTACCATTCTCCT DNA mRNAAUGUACCAUUCUCCU ProteinMet Tyr His Ser Pro ATGTAGCATTCTCCT
- 29. Point Mutation – Non-Sense • Non-Sense mutation – results in a premature stop codon, or a point-nonsense codon in the transcribed mRNA, and in a truncated, incomplete, and usually nonfunctional protein product. ATGTACCATTCTCCT DNA mRNAAUGUACCAUUCUCCU ProteinMet Tyr His Ser Pro ATGTAGCATTCTCCT AUGUAGCAUUCUCCU
- 30. Point Mutation – Non-Sense • Non-Sense mutation – results in a premature stop codon, or a point-nonsense codon in the transcribed mRNA, and in a truncated, incomplete, and usually nonfunctional protein product. ATGTACCATTCTCCT DNA mRNAAUGUACCAUUCUCCU ProteinMet Tyr His Ser Pro ATGTAGCATTCTCCT AUGUAGCAUUCUCCU Met STOP His Ser Pro
- 31. Point Mutation - Missense • Missense mutation – in which a single nucleotide change results in a codon that codes for a different amino acid.
- 32. Point Mutation – Missense • Missense (conservative) mutation – A conservative replacement is an amino acid replacement in a protein that changes a given amino acid to a different amino acid with similar biochemical properties ATGGACCATTCTCCT DNA
- 33. Point Mutation – Missense • Missense (conservative) mutation – A conservative replacement is an amino acid replacement in a protein that changes a given amino acid to a different amino acid with similar biochemical properties ATGGACCATTCTCCT DNA mRNAAUGGACCAUUCUCCU
- 34. Point Mutation – Missense • Missense (conservative) mutation – A conservative replacement is an amino acid replacement in a protein that changes a given amino acid to a different amino acid with similar biochemical properties ATGGACCATTCTCCT DNA mRNAAUGGACCAUUCUCCU ProteinMet Asp His Ser Pro
- 35. Point Mutation – Missense • Missense (conservative) mutation – A conservative replacement is an amino acid replacement in a protein that changes a given amino acid to a different amino acid with similar biochemical properties ATGGACCATTCTCCT DNA mRNAAUGGACCAUUCUCCU ProteinMet Asp His Ser Pro ATGGAACATTCTCCT
- 36. Point Mutation – Missense • Missense (conservative) mutation – A conservative replacement is an amino acid replacement in a protein that changes a given amino acid to a different amino acid with similar biochemical properties ATGGACCATTCTCCT DNA mRNAAUGGACCAUUCUCCU ProteinMet Asp His Ser Pro ATGGAACATTCTCCT AUGGAACAUUCUCCU
- 37. Point Mutation – Missense • Missense (conservative) mutation – A conservative replacement is an amino acid replacement in a protein that changes a given amino acid to a different amino acid with similar biochemical properties ATGGACCATTCTCCT DNA mRNAAUGGACCAUUCUCCU ProteinMet Asp His Ser Pro ATGGAACATTCTCCT AUGGAACAUUCUCCU Met Glu His Ser Pro
- 38. Point Mutation – Missense • Missense (conservative) mutation – A conservative replacement is an amino acid replacement in a protein that changes a given amino acid to a different amino acid with similar biochemical properties ATGGACCATTCTCCT DNA mRNAAUGGACCAUUCUCCU ProteinMet Asp His Ser Pro ATGGAACATTCTCCT AUGGAACAUUCUCCU Met Glu His Ser Pro (Acidic, Polar, Hydrophilic) (Acidic, Polar, Hydrophilic)
- 39. Point Mutation – Missense • Missense (non-conservative) mutation – changes a given amino acid to a different amino acid that has different biochemical properties. The protein may lose its function, which can result in a disease in the organism ATGGACCATTCTCCT DNA
- 40. Point Mutation – Missense • Missense (non-conservative) mutation – changes a given amino acid to a different amino acid that has different biochemical properties. The protein may lose its function, which can result in a disease in the organism ATGGACCATTCTCCT DNA mRNAAUGGACCAUUCUCCU
- 41. Point Mutation – Missense • Missense (non-conservative) mutation – changes a given amino acid to a different amino acid that has different biochemical properties. The protein may lose its function, which can result in a disease in the organism ATGGACCATTCTCCT DNA mRNAAUGGACCAUUCUCCU ProteinMet Asp His Ser Pro
- 42. Point Mutation – Missense • Missense (non-conservative) mutation – changes a given amino acid to a different amino acid that has different biochemical properties. The protein may lose its function, which can result in a disease in the organism ATGGACCATTCTCCT DNA mRNAAUGGACCAUUCUCCU ProteinMet Asp His Ser Pro ATGGAACATTTTCCT
- 43. Point Mutation – Missense • Missense (non-conservative) mutation – changes a given amino acid to a different amino acid that has different biochemical properties. The protein may lose its function, which can result in a disease in the organism ATGGACCATTCTCCT DNA mRNAAUGGACCAUUCUCCU ProteinMet Asp His Ser Pro ATGGAACATTTTCCT AUGGACCAUUUUCCU
- 44. Point Mutation – Missense • Missense (non-conservative) mutation – changes a given amino acid to a different amino acid that has different biochemical properties. The protein may lose its function, which can result in a disease in the organism ATGGACCATTCTCCT DNA mRNAAUGGACCAUUCUCCU ProteinMet Asp His Ser Pro ATGGAACATTTTCCT AUGGACCAUUUUCCU Met Asp His Phe Pro
- 45. Point Mutation – Missense • Missense (non-conservative) mutation – changes a given amino acid to a different amino acid that has different biochemical properties. The protein may lose its function, which can result in a disease in the organism ATGGACCATTCTCCT DNA mRNAAUGGACCAUUCUCCU ProteinMet Asp His Ser Pro ATGGAACATTTTCCT AUGGACCAUUUUCCU Met Asp His Phe Pro (Small, Polar, Hydrophilic) (Large, Non-Polar, Hydrophobic)
- 46. Missense - (Non-Conservative) • Sickle cell disease is a group of disorders that affects hemoglobin, the molecule in red blood cells that delivers oxygen to cells throughout the body. In this disease, hemoglobin (Hb) is mutated into a less active form hemoglobin S (Hbs). GAG DNA mRNA GAG Protein Glu GTG GUG Val
- 47. Substitution - Mutation • Substitution – when one or more bases in the sequence is replaced by the same number of bases (for example, a cytosine substituted for an adenine)
- 48. Inversion - Mutation • Inversion – when a segment of a chromosome is reversed end to end.
- 49. Insertion – Frame Shift Mutations • Insertion – when a base is added to the sequence.
- 50. Deletion – Frame Shift Mutations • Deletion – when a base is deleted from the sequence.
- 51. How do we inherit mutations? Each of our genes is a copy from either our mother or our father. If there is a mutation in one of these genes, this can be passed on from parent to child along with the rest of their genes. Even though mutation is common, inherited diseases are relatively rare. This is because inherited diseases are often recessive, which means that a person must have two copies of the mutated gene to get the disease.