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• W1978408031 endingPage "1953" @default.
• W1978408031 startingPage "1944" @default.
• W1978408031 abstract "A convincing line of evidence is being developed that the congenital nongoitrous hypothyroidism and dwarfism observed in the WIC-rdw rat may indeed be caused by a primary defect in thyroid hormonogenesis. In support of this hypothesis, several recent reports have shown the presence of elevated molecular chaperone levels in the WIC-rdw thyrocytes, the endoplasmic reticulum of which was markedly dilated, suggesting a defect in intracellular protein transport. Here the studies were undertaken to identify the precise molecular defect in the WIC-rdw rat. First, the genetic linkage analysis revealed that the rdw locus was on rat chromosome 7 and was identical to the thyroglobulin (Tg) gene locus. Moreover, the Tg protein level was reduced in the WIC-rdw thyroid despite a similar level of the Tg gene transcripts that were indistinguishable in their size from the normal. Next, the complete sequencing of the rdw and the normal rat Tg cDNAs revealed a single nucleotide change, G6958C, resulting in a G2320R missense mutation in a highly conserved region of the Tg molecule. Finally, transient expression of the intact Tg cDNA containing the rdw mutation in the COS-7 cells showed no detectable Tg in the secreted media, indicating a severe defect in the export of the mutant Tg. Together, our observations suggest that a missense mutation, G2320R, in the Tg gene is responsible for the rdw mutation in the WIC-rdw rat." @default.
• W1978408031 created "2016-06-24" @default.
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• W1978408031 date "2000-12-01" @default.
• W1978408031 modified "2023-09-25" @default.
• W1978408031 title "A Missense Mutation G2320R in the Thyroglobulin Gene Causes Non-goitrous Congenital Primary Hypothyroidism in the WIC-<i>rdw</i>Rat" @default.
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• W1978408031 doi "https://doi.org/10.1210/mend.14.12.0571" @default.
• W1978408031 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/11117525" @default.
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