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Understanding a Gene List

Understanding a Gene List. Gene Lists. Genome-scale instruments generally produce lists of genes that distinguish among conditions An important informatics task is making sense of them. Infected Control. What will you learn today?. What kinds of explanations of genetic differences are there?

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Understanding a Gene List

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  1. Understanding a Gene List

  2. Gene Lists • Genome-scale instruments generally produce lists of genes that distinguish among conditions • An important informatics task is making sense of them Infected Control

  3. What will you learn today? • What kinds of explanations of genetic differences are there? • Where do you find information about genes that is relevant to understanding their effects? • How do you put together information about multiple genetic differences into a coherent story about mechanism?

  4. Gene functions • All organisms must: • Grow: turn available substances into living parts • Reproduce • To do this, their genes must: • Manage energy • Synthesize biochemicals (DNA, protein, lipids) • Sense the state of the environment • Maintain homeostasis • These are the functions that explain change

  5. A simple example • Phenylalanine hydroxylase (PAH) is a gene whose product catalyzes transformation the amino acidphenylalaninetotyrosine.  • If there isn’t enough PAH, then phenylalanine accumulates, and can be toxic. This happens in a disease called phenylketonuria. • We test newborns for this gene defect, since avoiding phenylalanine in the diet can avoid the toxicity…

  6. How to find out? Entrez Gene http://www.ncbi.nlm.nih.gov/gene

  7. Transcriptional Regulation • Transcription factors (TFs) • DNA-binding proteins • Control the expression of other genes • Changes in TFs have very widespread effects

  8. Downstream consequences Transcription factors tend to influence many “downstream” genes BMP4 plays a key role in bone development

  9. Signal Transduction

  10. Describing functions • Functions • As biochemical effect • As process participation • As interaction with other proteins • How to name them? • Hierarchy (function is manifold) • Ontology (cross organisms)

  11. Gene Ontology

  12. Multiplicity • Gene products have multiple functions • Multiple genes work together • Modern experimental results generate lists of genes relevant to a phenomenon • How do we understand the integrated functioning of many genes together?

  13. Function enrichment

  14. Mapping genes to pathways

  15. Combining functions into a story

  16. But that’s the ideal… • I’ve shown you some of the best known, best studied pathways. • Most pathways have lots of missing pieces • Many functions cannot be assembled easily into a reasonable story • Some protein functions remain unknown, too • Most assay methods don’t identify all the relevant genes anyway…

  17. Review • An important task is making sense of lists of genes implicated by experiment • Databases of genes centralize knowledge • Genes function together in groups • Transcription, Signal transduction, pathways • Gene function can be described formally • Hierarchical structure • Formal descriptions help make sense of lists • Enrichment, pathway maps

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