Ch 18 lectures.ppt - Genetics Part II • How to express a gene Brief interlude mutations • How to regulate gene expression • Fancy genetic

Ch 18 lectures.ppt - Genetics Part II • How to express a...

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Genetics Part II How to express a gene How to regulate gene expression Fancy genetic techniques Brief interlude: mutations!
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Gene Mutations and DNA Repair Chapter 18 18.1 – Mutations are inherited alterations in the DNA sequence 18.2 – Mutations are potentially caused by a number of different natural and unnatural factors 18.5 – A number of pathways repair changes in DNA 8.2 – Chromosome rearrangements alter chromosome structure 18.4 – Transposable elements
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The Importance of Mutations Source of all genetic variation, which further provides the raw material for evolution Source of many diseases and disorders Useful for probing fundamental biological processes
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Ways to classify mutations Broad categories of mutations Somatic vs. germ-line Types of mutations Chromosomal rearrangements (chapter 8) Base substitutions Insertions/deletions Expanding nucleotide repeats Causes of mutations Functional effects of mutations
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Categories of Mutations
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Types of Gene Mutations Base pair substitutions Insertions/deletions Expanding nucleotide repeats Chromosomal rearrangements
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Chromosomal Rearrangements Fig. 8.4
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Chromosomal Rearrangements
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Chromosomal Rearrangements
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Cancers are the Kings/Queens of Chromosomal Rearrangements HeLa (cervical cancer) cells: •Many base pair mutations •Many extra copies of chromosomes (46 - > 70+) •May chromosomal rearrangements
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Types of Gene Mutations Base pair substitutions Insertions/deletions Expanding nucleotide repeats Chromosomal rearrangements
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Base Pair Substitutions
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Two types of base pair substitutions
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Types of Gene Mutations Base pair substitutions Insertions/deletions Expanding nucleotide repeats Chromosomal rearrangements
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Base Pair Insertions/Deletions
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Types of Gene Mutations Base pair substitutions Insertions/deletions Expanding nucleotide repeats Chromosomal rearrangements
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Expanding Nucleotide Repeats TABLE 18.1 Examples of human genetic diseases caused by expanding nucleotide repeats Disease Repeated Sequence Number of Copies of Repeat Normal Range Disease Range Huntington disease CAG 9–37 37–121 Amyotrophic lateral sclerosis GGGGCC 2–23 700–1600
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TABLE 18.1 Examples of human genetic diseases caused by expanding nucleotide repeats Disease Repeated Sequence Number of Copies of Repeat Normal Range Disease Range Spinal and bulbar muscular atrophy CAG 11–33 40–62 Fragile-X syndrome CGG 6–54 50–1500 Jacobsen syndrome CGG 11 100–1000 Spinocerebellar ataxia (several types) CAG 4–44 21–130 Autosomal dominant cerebellar ataxia CAG 7–19 37–220 Myotonic dystrophy CTG 5–37 44–3000 Huntington disease CAG 9–37 37–121 Friedreich ataxia GAA 6–29 200–900 Dentatorubral-pallidoluysian atrophy CAG 7–25 49–75 Myoclonus epilepsy of the Unverricht–Lundborg type CCCCGCCCC GCG 2–3 12–13 Amyotrophic lateral sclerosis GGGGCC 2–23 700–1600 Expanding Nucleotide Repeats
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Question: which type of mutation is likely to have the least drastic phenotype? Most?
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