PHIL 2015 Chapter 7.6: PHIL 2015 Chapter 7.: RXR as a dimerization partner

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If you only have one of them, you won"t get activation. Rar, tr and vdr must have their ligand to activate transcription. If the rxr ligand is present only, it will not activate transcription. If rxr has ligand bound, it will activate transcription, even if the partner"s ligand is not there. Mutations in the vitamin d receptor and hereditary vitamin d-resistant rickets. Mutations along the projections of the zinc fingers that interface with. One of the mutations is from cysteine to tyrosine. If this mutation happens, we can no longer have the shape of the zinc finger that you would expect, and we cannot properly contact dna, mediating the expression of genes in the presence of vitamin d. The vitamin d binding to the vitamin d receptor ligand binding domain is normal. 11 missense mutations in the vdr dna binding domain as the cause of hereditary vitamin d resistant rickets. The ligand binding domains of nuclear receptors are highly conserved.

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