DNA, Transcription, Translation

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DNA, Transcription, Translation

• Bio Unit 5
• Chapter 11

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FIGURE 11-5
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FIGURE 11-6
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FIGURE 11-7
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FIGURE 11-8
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FIGURE 11-9
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FIGURE 11-10
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FIGURE 11-12
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FIGURE 11-14
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FIGURE 11-13
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FIGURE 11-17
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FIGURE 11-18
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FIGURE 11-19
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MUTATIONS!

• Mistake in DNA
• Could be harmful, beneficial, or no effect
• Several types
• Chromosome
• Substitution
• Deletion/Insertion

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Chromosome Mutation

• Non-disjunction
• Chromosomes dont split
• Down Syndrome
• Translocation
• Chromosomes detach and reattach elsewhere
• Down Syndrome

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Down Syndrome Genotype
Translocation
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Genes on chromosome 21

• Superoxide Dismutase (SOD1)-- overexpression may
  cause premature aging and decreased function of
  the immune system
• COL6A1 -- overexpression may be the cause of
  heart defects
• ETS2 -- overexpression may be the cause of
  skeletal abnormalities
• CAF1A -- overexpression may impair DNA synthesis
• Cystathione Beta Synthase (CBS) -- overexpression
  may disrupt metabolism and DNA repair
• DYRK -- overexpression may be the cause of mental
  retardation
• CRYA1 -- overexpression may be the cause of
  cataracts
• IFNAR -- the gene for expression of Interferon,
  overexpression may interfere with the immune
  system as well as other organ systems

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Down Syndrome Phenotype

• Child has 3 copies of chromosome 21
• Mild mental retardation,
• congenital heart disease,
• leukemias, immunological
• deficiencies, etc.

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Substitution and Deletion Mutations
FIGURE 11-20
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Sickle Cell Anemia

• Cause Missense mutation
• Hydrophillic amino acid is changed to a
  hydrophobic amino acid
• Hemoglobin proteins stick together b/c
  hydrophobic regions interact
• Result Sickle shaped cells

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Phenotype

• Sickle shaped cells block oxygen carrying RBCs
  blocked from reaching tissues
• Pain
• Pain results from tissues dying due to lack of
  oxygen
• Why does lack of oxygen kill cells?
• Fatigue
• Why does lack of oxygen cause fatigue?

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Malaria

• Parasite carried/spread by mosquitoes
• Causes severe fever and death

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Value of Mutations

• Sickle shaped cells are resistant to malaria!
• Survival of genotypes in Africa

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Retinoblastoma Phenotype

• Incidence 1/20,000 births
• Deletion of a portion of the Rb gene
• Rb is a tumor suppressor gene functions in
  controlling cell division
• Rb protein isnt made cells divide out of
  control

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Treatments

• Prior to the 20th century, disease was fatal
• With treatment- 90 survival rate in
  industrialized countries
• Treatments Surgery, cryotherapy, beam radiation,
  chemotherapy

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Without Treatment
And this is why its important to understand DNA,
transcription and translation (Genotype to
Phenotype)