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Mutations

Mutations. A mutation is a permanent change in the DNA sequence of a gene . Mutations in a gene's DNA sequence can alter the amino acid sequence of the protein encoded by the gene. GOOD BAD NEUTRAL.

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Mutations

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  1. Mutations • A mutation is a permanent change in the DNA sequence of a gene. • Mutations in a gene's DNA sequence can alter the amino acid sequence of the protein encoded by the gene.

  2. GOOD BAD NEUTRAL

  3. What base was mutated in DNA?The substitution was a T but it is suppose to be _____.

  4. Gene Mutations on DNA

  5. Examples of Gene Mutations Each word represents an amino acid in a PROTEIN (SENTENCE) THE FAT CAT ATE THE RAT THE HAT CAT ATE THE RAT THE ATC ATA TET HER AT THE FFA TCA TAT ETH ERA T Normal protein or sentence Substitution causes Point mutation Sentence or Protein is still readable. Deletion causes Frame shift Sentence makes No sense due to Frame Shift Duplication or Insertion causes Frame shift Sentence makes NO sense due to Frame Shift

  6. Chromosome Mutations (point, deletion, translocation, )

  7. Definitions • Somatic cell mutation- mutation in body cell *Not passed to offspring ex. Lung cancer Q. If a mother has lung cancer or skin cancer and gets pregnant will her child be born with lung or skin cancer? • Germline mutation – mutation in the sex cells, the egg and sperm or gametes. ex. BRCA1 and BRCA2 (breast cancer and ovarian cance genes) *Can be passed to offspring generation after generation, less common.

  8. EOC Question • Which would most likely produce a mutation that is passed on to offspring? a. Radiation changing the DNA sequence in skin cells b. A gamete with an extra chromosome forming c. Tobacco smoke altering the genes in lung cells d. Exposure to chemicals altering nerve cell function

  9. Effects of germ line mutations • No change occurs in phenotype. No noticeable effect of the phenotype. • Small change occurs in phenotype. ex. Can cause cat's ears to curl backwards slightly. • Big change occurs in phenotype. Really important phenotypic changes. ex. DDT resistance in insects or are lethal (causing death)

  10. Evolution and Mutation • Mutations are the raw materials of • evolution. • Evolution absolutely depends on mutations • because this is the only way that new • alleles and new regulatory regions are’ • created.

  11. Pepper Moths

  12. EOC Question • Which will most likely cause variations to occur within a species? a. Competition b. Mutation c. Mutualism d. Predation

  13. Random or Spontaneous Mutations

  14. Spontaneous Mutation of MSTN Gene • MSTN is the myostatingene • TheMSTN gene provides instructions for making a protein called myostatinwhich is active in muscles used for movement. • This protein normally restrains muscle growth, ensuring that muscles do not grow too large. • Mutations lead to an overgrowth of muscle tissue.

  15. Spontaneous Mutation

  16. Myostatin protein is not working to maintain normal muscle size. Question: The reason the myostatin protein is not working correctly is due to a ____________________. What does the MSTN gene instruct the ribosome to make?_________ ______________

  17. Other Conditions due to Mutations Tree Man Condition caused by a Mutation in the EVER1 Or EVER2 gene on Chromosome 17. Wolf Man Wolf Man Syndrome is caused by a mutation on chromosome 17 which causes abnormal hair growth all over the body.

  18. Strange Sighting in Asheboro, N.C. 2013 It is believed that this is the same animal several folks spotted in their backyards. The picture on the left was taken in the day time when the animal would be seen. The picture on the right was taken by a hunting camera mounted on a tree at night. Q. What is this animal? Is a combination of animals?

  19. Desirable Mutations in Animals Scottish Fold

  20. The name of the mystery animal –SAMPSON FOX A Sampson fox is an abnormal Red Fox who has a MUTATION that prevents the animals guard hairs from growing. Normal Red Fox with guard hairs. Sampson fox are very rare and usually die due to environmental conditions.

  21. Desirable Mutation for future

  22. U Causes of Induced Mutations Radiation Chemicals Smoking Ultra-violet Rays

  23. SKIN CANCER • Skin cancer occurs when errors (mutations) occur in the DNA of skin cells. • The mutations cause the cells to grow out of control forming cancer cells.

  24. Melanoma (BRAF mutation)

  25. Mutations caused possibly by parasites

  26. Mutations Caused by RadiationFallout

  27. Mutations Caused by Chemicals Mercury in the environment

  28. Lesson for Drug Safety-Thalidomide

  29. Other Mutations in Animals

  30. EOC Question • A large population of cockroaches was sprayed with an insectide. A few of the cockroaches survived and produced a population of cockroasches that was resistant to this spray. What can best be inferred from this example? a. A species will adapt no matter what the environment B. The environment has no effect on the survival of an organism c. Insecticides cause mutations that are passed on to the next generation. d. Individuals with favorable variations survive and reproduce

  31. EOC (tricky one!) • The use of pesticides on crops has been a common farming practice for decades. What has been the greatest effect of natural selection through the use of pesticides on certain insect population? a. Natural selection has been altered because the insects and their predators are killed. b. The rate of selection is increased because the pesticides do not kill the insects that are naturally resistant to it. c. The rate of selection has decreased because the pesticides kill only young insects. d. The pesticides have altered natural selection by causing the insect DNA to spontaneously mutate.

  32. Hemophilia • Hemophilia is caused by mutation in the X sex chromosome. • Hemophilia can be inherited, or it may be caused by a spontaneous mutation of the factor gene. • Approximately 30% of cases of hemophilia are caused by a spontaneous mutation of the gene. In these cases, the mother is not a carrier of hemophilia and the child affected is the first in the family to have hemophilia and to carry the defective factor gene.

  33. Hemophilia

  34. Do you recognize any genes that can cause a disorder on this sex chromosome?

  35. Sickle Cell Anemia Is this mutation a point or frame shift mutation?

  36. Sickle cell disease, hereditary blood disorders, occurs almost exclusively among black Americans and black Africans..

  37. Sickle Cell causes a great deal of pain fatigueand an enlarged spleen

  38. Cystic Fibrosis Caused by mutation in Protein in plasma Membrane.

  39. CF Mutation causes over production of mucus which clogs lungs and intestines (breeding ground for bacteria)

  40. Cystic fibrosis (CF) is the most common inherited fatal disease of children and young adults in the United States. CF occurs in about 1 out of 3,200 whites, 1 out of 15,000 African-Americans, and 1 out of 31,000 Asian-Americans.

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