lecture outline 12/7/05 the human genome –most of our dna is non-coding various types of...
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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 doesn’t mean we can read it . . .
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Overview of the human genomeExons (regions of genes codingfor protein, rRNA, tRNA) (1.5%)
RepetitiveDNA thatincludestransposableelementsand relatedsequences(44%)
Introns andregulatorysequences(24%)
UniquenoncodingDNA (15%) Repetitive
DNAunrelated totransposableelements(about 15%)
Alu elements(10%)
Simple sequenceDNA (3%)
Large-segmentduplications (5–6%)
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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
TransposonNew copy oftransposon
Transposonis copied
DNA of genome
Insertion
Mobile transposon
(a) Transposon movement (“copy-and-paste” mechanism)
RetrotransposonNew copy of
retrotransposon
DNA of genome
RNA
Reversetranscriptase
(b) Retrotransposon movement
Insertion
Figure 19.16
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Many genes occur in gene families
DNA RNA transcripts
Non-transcribedspacer Transcription unit
DNA18S 5.8S 28S
rRNA
5.8S
(a) Part of the ribosomal RNA gene family
28S
18S
Heme
Hemoglobin
-Globin
-Globin
-Globin gene family -Globin gene family
Chromosome 16 Chromosome 11
2 1
2 1 G A
EmbryoFetus
and adult Embryo Fetus Adult
(b) The human -globin and -globin gene families
Figure 19.17
Ribosomal RNA genes
Globin genes
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Histone gene distribution
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Gene duplication due to unequal crossing over
Nonsisterchromatids
Transposableelement
Gene
Incorrect pairingof two homologuesduring meiosis
Crossover
and
Figure 19.18
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Evolution of the human -globin and -globin gene families
Ancestral globin gene
21
2 1 G A
-Globin gene familyon chromosome 16
-Globin gene familyon chromosome 11
Evo
lutio
nary
tim
e
Duplication ofancestral gene
Mutation inboth copies
Transposition todifferent chromosomes
Further duplicationsand mutations
Figure 19.19
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Evolution of a new gene by exon shuffling
EGF EGF EGF EGF
Epidermal growthfactor gene with multipleEGF exons (green)
F F F F
Fibronectin gene with multiple“finger” exons (orange)
Exonshuffling
Exonduplication
Exonshuffling
K
F EGF K K
Plasminogen gene with a“kringle” exon (blue)
Portions of ancestral genes TPA gene as it exists today
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 presentCurrat and Excoffier 2004
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Ovchinnikov et al 2000 Nature 404:490-493
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Poaching Whales?
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Minke whale
Minke whale
Sample #19a
Sample WS3
Sample #9
Sample #15
Sample #29
Sample #30
Sample #36
Sample #6
Minke whale
Sample #18
Sample #19b
Humpback whale
Humpback whale
Gray whale
Gray whale
Blue whale
Blue whale
Sample #41
Sample #3
Sample #11
Sample WS4
Fin whale
Fin whale
Sei whale
Sei whale
Bryde’s whale
Bowhead whale
Bowhead whale
Right whale
Pygmy right whale
Sperm whale
Pygmy sperm whale
Sample #16
Harbor porpoise
Sample #13
Sample #28
Hector’s dolphin
Commerson’s dolphin
Killer whale
www.okstate.edu/artsci/zoology/ravdb/Cons.%20Genet...
Data from Baker and Palumbi 1990
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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?
Mother Father
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The future?
• Patterns of expression?
• Regulatory networks? – Gene-> 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