Here I present: “Thyroid Hormone Resistance”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 甲状腺激素抗性。(THRB).
INTRODUCTION.
Thyroid hormone receptors are nuclear receptors that mediate gene regulation by thyroid hormone (TH). Thyroid hormone receptors form monomers, homodimers, or heterodimers with retinoid X receptors at target DNA binding sites called TH-responsive elements’. Two different genes, THRA and THRB encode thyroid hormone receptors and both genes produce multiple thyroid hormone receptor isoforms through alternative splicing.
There is evidence autosomal dominant thyroid hormone resistance is caused by heterozygous mutation in the thyroid hormone receptor gene (THRB) encoded on cytogenetic location 3p24.2 and genomic coordinates 3:24,117,153-24,495,708. The screenshot of the THRB gene 378,556 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides THRB in the 3p24.2 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 3:23,805,955 | UBE2E1 | Ubiquitin-conjugating enzyme E2 E1 |
| 3:23,889,951 | NKIRAS1 | NFKB inhibitor-interacting Ras protein 1 |
| 3:23,916,545 | RPL15 | Ribosomal protein L15 |
| 3:23,945,286 | NR1D2 | Nuclear receptor 1, D, 2 |
| 3:24,117,153 | THRB | Thyroid hormone receptor, beta |
| 3:24,829,321 | RARB | Retinoic acid receptor, beta polypeptide |
| 3:25,597,905 | TOP2B | Topoisomerase (DNA) II, beta, 180kD |
| 3:25,718,944 | NGLY1 | N-glycanase 1 |
| 3:25,790,090 | OXSM | 3-oxoacyl-ACP synthase, mitochondrial |
| 3:26,622,772 | LRRC3B | Leucine-rich repeat-containing protein 3B |
