| First Author | Toyoda N | Year | 1996 |
| Journal | J Clin Endocrinol Metab | Volume | 81 |
| Issue | 6 | Pages | 2121-4 |
| PubMed ID | 8964838 | Mgi Jnum | J:46326 |
| Mgi Id | MGI:1197641 | Doi | 10.1210/jcem.81.6.8964838 |
| Citation | Toyoda N, et al. (1996) The structure of the coding and 5'-flanking region of the type 1 iodothyronine deiodinase (dio1) gene is normal in a patient with suspected congenital dio1 deficiency. J Clin Endocrinol Metab 81(6):2121-4 |
| abstractText | We analyzed the exon-intron structure of the human type 1 deiodinase gene (dio1) and compared it with that of a patient with suspected congenital type 1 deiodinase (D1) deficiency. The hdio1 gene is identical in exon-intron arrangement to the mouse gene, with coding sequences and a selenocysteine insertion sequence (SECIS) element contained in four exons. There were no mutations in the sequences of exons 1-4 of the patient's genomic DNA. Functional studies by transient expression techniques showed no difference in basal promoter activity or T3 responsiveness between the patient's and the normal dio1 gene. A structural abnormality in the dio1 gene is not a likely explanation for this patient's D1-deficient phenotype. |
