Physiology 4530A/B Lecture Notes - Lecture 1: Exon, Achondroplasia, Cyclin D1
15 Apr 2017
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Genetic: chondrodysplasia, osteogenesis imperfecta: achondroplasia is an example of chondrodysplasia. Head is regular size whereas body is disproportionately small. Gof mutation of fgfr3 which is constitutively active w/o ligand binding. Chondrocytes go straight to hypertrophic phase without proliferating enough. De novo mutation usually since most don"t reproduce; autosomal. Environmental: due to malnutrition, meds, injuries dominant mutation. Mice are economic b/c small and short lifespan. Take a gene promoter and put it in front of coding seq of gene x, insert that construct into oocyte. Used to overexpress wt gene x for gof. Do it many times in a row, and phenotype will differ b/c genome integration is very random. Inefficient b/c resulting phenotype may not necessarily be b/c of gene x; may be from disruption of gene y. So have to do it many times to verify that the phenotype was indeed caused by gene x. Select cells where hr occurs, and make targeting vector w homologous sequences.
