Lecture Outline 12705

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Lecture Outline 12/7/05

• The human genome
• Most of our DNA is non-coding
• Various types of repetitive elements
• Gene families
• Some applications of genetic technologies
• Future of genomics?
• Course Review

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On February 11, 2001, two groups published the
sequence of the entire human genome
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But that doesnt mean we can read it . . .
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Overview of the human genome
Exons (regions of genes coding for protein, rRNA,
tRNA) (1.5)
Repetitive DNA that includes transposable elements
and related sequences (44)
Introns and regulatory sequences (24)
Unique noncoding DNA (15)
Repetitive DNA unrelated to transposable elements
(about 15)
Alu elements (10)
Simple sequence DNA (3)
Large-segment duplications (56)
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Numbers and types of genes in different eukaryotes
Most genes have uknown function
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Areas of high and low gene density
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 Movement of eukaryotic transposable elements
Figure 19.16
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 Many genes occur in gene families
Ribosomal RNA genes
Globin genes
Figure 19.17
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Histone gene distribution
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Gene duplication due to unequal crossing over
Figure 19.18 
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 Evolution of the human ?-globin and ?-globin
gene families
Figure 19.19
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Evolution of a new gene by exon shuffling
Figure 19.20 
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Some other uses of genetic technology
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Replacement of Neanderthals by Modern Humans
Generations before present
Currat and Excoffier 2004
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Ovchinnikov et al 2000 Nature 404490-493
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Poaching Whales?
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Data from Baker and Palumbi 1990
www.okstate.edu/artsci/zoology/ravdb/Cons.20Genet
...
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Particularly variable regions of DNA can be used
as genetic fingerprints

• Can any of these children be excluded from being
  the biological child of the father?

Father
Mother
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The future?

• Patterns of expression?
• Regulatory networks?
• Gene-gt phenotype
• Patterns of variation?
• What is all the non-coding DNA?

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Patterns of Gene Expression

• Gene Chips or microarrays can compare
  expression levels of 1000s of genes at once

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Understanding Variation