hTRa1 RTH Abstract

Thyroid hormone receptors (TRs) contain nuclear localization signals (NLSs) and nuclear export signals (NESs), which allow them to undergo nucleocytoplasmic shuttling. Mutations in TRs have been associated with Resistance to Thyroid Hormone Syndrome (RTH). This proposal examines two separate mutations in the THRA gene, which encodes a major subtype of TR, called TRa1, that causes RTHa. These mutations were found in two patients who exhibited hypothyroidism and hypercalcemia with severe bone malformations. One mutation leads to an amino acid change from alanine to serine at position 263 (A263S) in TRa1, and the other mutation changes asparagine to tyrosine at position 359 (N359Y). Both amino acid substitutions are located near known NESs in TRa1. I will characterize how these amino acid mutations influence the intracellular localization of TRa1, and use structural models to understand structure-function relationships.

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Update 3/20: Introduction to Summer Research Project

Dear all, I am thrilled to announce the commencement of my summer research project on early-twentieth-century Chinese constitutionalism. I wish you enjoyed the following introduction of my project and discussion of the topic’s historical significance.

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