Gen2011_TheBigPicture

Gen2011_TheBigPicture - Genetics The Big Picture Objectives...

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Genetics – The Big Picture Objectives be motivated to learn the material in the course! have some understanding of the Human Genome Project. What do we know so far, and what more do we need to learn? How does understanding classical genetics and molecular biology help? What are model systems and genetic screens , and what use are they in understanding human disease? By the end of this lecture, you will
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The Central Dogma of Molecular Biology: Genes Encode Proteins Figure 1-12
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The Central Dogma of Molecular Biology: Genes Encode Proteins ATGGTC AUGGUC Met-Val DNA RNA Protein Genome Transcriptome Proteome GACCAT
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The Genetic Code
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Amino acids fall into different classes… Amino Acid Classes Non-polar (hydrophobic) G - Glycine (Gly) P - Proline (Pro) A - Alanine (Ala) V - Valine (Val) L - Leucine (Leu) I - Isoleucine (Ile) M - Methionine (Met) F - Phenylalanine (Phe) W - Tryptophan (Trp) Uncharged polar C - Cysteine (Cys) Y - Tyrosine (Tyr) Q - Glutamine (Gln) N - Asparagine (Asn) S - Serine (Ser) T - Threonine (Thr) Hydrophilic -- acidic E - Glutamic Acid (Glu) D - Aspartic Acid (Asp) Hydrophilic -- basic H - Histidine (His) K - Lysine (Lys) R - Arginine (Arg) … so some DNA mutations matter more than others.
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Example from Celera Human Genome Sequence Colors in top two and bottom two lines (expanded transcripts) show function of protein encoded by gene Note: many white genes (unknown function)
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What are some functions that proteins can have? 1. 2. 3. 4. 5. 6. 7. 8.
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An example of protein function Phosphorylation can change the shape, and thus the function, of the red protein To understand what Kinase X really does, we need to know what happens when the red protein is phosphorylated Kinase X P
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Protein Kinase Cascade Kinase X P P P Kinase Y Kinase Z Kinase A
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Signal Transduction Pathway P P Response (e.g. proliferation) No growth factor Growth factor This pathway utilizes a protein kinase cascade that is activated when a growth factor is present. Many other proteins involved in the response are not shown.
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Biosynthetic Pathway Protein A Protein B Initial Substrate Intermediate Substrate Final Product
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