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CMMB 403

Decent Essays
CMMB 403 Paper
Topic – Gene FGFR3
Using these three articles (or more), you should tell the story of the discovery and developmental function (including the relevant signaling pathway) -
One of your additional papers should concern the discovery of the function of the gene in humans (i.e. the human mutant phenotype)
Introduction
Achondroplasia is when cartilage during development is not developed into bone, which results in dwarfism. This condition also characterized by short limbs is initiated by a gain of function mutation in the FGFR3 gene. This mutation is a point mutation. When this mutation occurs, the receptor of the FGF does not need the FGF signal to be activated. This causes the chondrocytes to stop dividing and start differentiating into cartilage prematurely and the bones fail to grow to their proper length, thus resulting in the short limbs that result from this mutation. (textbook) The FGFR3 gene encodes for the Fibroblast growth factor receptor 3 protein. Textbook
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Initially called protein 17B, FGFR3 was discovered based on the similarities Paper 1 discovered FGFR3 through the use of homologous genes of other FGFRs. Regions such as the kinase domain and the C terminus were used to test the extent of homology between Protein 17B and the FGFRs. Paper 1 used a human cDNA library which was hybridized in low stringency. Then under high stringency, a partial FGFR3 clone was used as a probe. The DNA was cloned using dideoxynucleotide chain termination method. A mutation in the FGFR3 gene causes a premature activation of the STAT pathway which also leads to the premature production of phoshorylated Stat1 protein. The phophorylated Stat1 protein encodes genes for cell cycle inhibition, these leads to a decreased number of chondrocytes and hence shorter skeletal
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