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137A_figsLec2 - epidermolysis bulosa Some keratin OK Some...

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9/27/11 1 Week 1 what genes do 2 assertions All disease has a genetic origin We could cure/eliminate most genetic disease in 2 generations. – Issues are ethical; economic What is a gene? Genes make proteins The information for protein assembly is stored in packets of DNA sequence [genes] DNA -> RNA -> Protein Proteins are: Catalysts [enzymes] Structural proteins Regulatory proteins Hormones Signaling molecules ?Exceptions to genes make proteins =?? Structural gene = keratin
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Unformatted text preview: epidermolysis bulosa Some keratin OK Some not! Conclusion? Structural gene = keratin epidermolysis bulosa Catalytic genes - HGPRT Lesh Nyhan 9/27/11 2 Regulatory genes - FGF/FGFR Achondroplastic Dwarf Regulatory genes - FGF/FGFR thanatophoric dysplasia LOF Regulatory genes – BMP signaling and holoprosencephaly http://-acciobrain.tumblr.com/post/4155637549/holypatricide-agnathia-holoprosencephaly-complex Fibrodysplasia ossi±cans progressiva FOP...
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