相关实验视频
Updated: Sep 16, 2025
04:39
Generation of a Mouse Spontaneous Autoimmune Thyroiditis Model
Published on: March 17, 2023
1.9K
将LINE-1转化为小鼠甲状腺蛋白导致先天性甲状腺发育不良
Wendy J Bailey1, Bart M G Smits2, Zoltan Erdos1
1Merck & Co., Inc., Rahway, New Jersey, United States of America.
PloS one
|July 8, 2025
概括
甲状腺蛋白 (Tg) 基因的新奇突变,由LINE-1逆转移素插入引起,导致甲状腺发育不良和小鼠的激素水平变化. 这种遗传变化会影响甲状腺功能和蛋白质的稳定性.
科学领域:
- 遗传学 遗传学 是一个
- 分子生物学分子生物学
- 内分泌学 在内分泌学.
背景情况:
- 鼠标基因组含有丰富的逆转移子DNA,具有能够逆转移的移动元素. 从这些元素中可以产生自发突变,影响基因功能.
- 甲状腺激素的合成依赖于甲状腺蛋白 (Tg) 蛋白质,这对于甲状腺正常功能至关重要.
研究的目的:
- 描述与甲状腺发育不良相关的C57BL/6NTac小鼠中的自发突变.
- 为了研究在甲状腺蛋白 (Tg) 基因中插入逆转移素的分子机制和生理后果.
主要方法:
- 在小鼠中自发突变的遗传分析.
- 甲状腺转录组分析以评估基因拼接.
- 血清荷尔蒙水平测量 (T3,T4,TSH). 血清荷尔蒙水平测量 (T3,T4,TSH). 血清荷尔蒙水平测量 (T3,T4,TSH). 血清荷尔蒙水平测量 (T3,T4,TSH). 血清荷尔蒙水平测量 (T3,T4,TSH). 血清荷尔蒙水平测量 (T3,T4,TSH). 血清荷尔蒙水平测量 (T4,TSH). 血清荷尔蒙水平测量
- 对TG蛋白的计算分子建模.
主要成果:
- 一个LINE-1逆转移子插入Tg基因内核 (Tgtdys-Tac等位基因) 会导致26个前体跳转.
- 同性卵性小鼠表现出渐进的甲状腺毛囊细胞扩张和腺瘤,具有完全的穿透性.
- 受影响的小鼠显示T3和T4水平降低,TSH增加,表明甲状腺功能低下.
- 突26跳转导致TG蛋白的不稳定性和未折叠蛋白质响应 (UPR) 途径的上调.
结论:
- 在Tg基因中自发插入逆转移素与甲状腺发育不良和小鼠激素失调有因果关系.
- Tg蛋白的臂域对细胞分布至关重要,其破坏导致甲状腺病理.
- 这项研究强调了移动遗传元素对宿主基因组完整性和生理功能的影响.
相关概念视频
01:20Synthesis and Regulation of Thyroid Hormones
5.1K
Low blood levels of the thyroid hormones — triiodothyronine (T3) and thyroxine (T4) — signal the hypothalamus to release the thyrotropin-releasing hormone (TRH). TRH then reaches the pituitary gland and stimulates the release of thyroid-stimulating hormone(TSH) into the bloodstream.
Upon reaching the thyroid gland, TSH stimulates the follicular cells' active uptake of iodide ions from the blood. The ions diffuse to the apical surface of the cells and are oxidized to iodine. The...
Upon reaching the thyroid gland, TSH stimulates the follicular cells' active uptake of iodide ions from the blood. The ions diffuse to the apical surface of the cells and are oxidized to iodine. The...
5.1K
03:18Non-LTR Retrotransposons
11.9K
As the name suggests, non-LTR retrotransposons lack the long terminal repeats characteristic of the LTR retrotransposons. Additionally, both LTR and non-LTR retrotransposons use distinct mechanisms of mobilization. Non-LTR retrotransposons are further divided into two classes - Long interspersed nuclear elements (LINEs) and short interspersed nuclear elements (SINEs), both of which occur abundantly in most mammals, including humans. Some of the active non-LTR retrotransposons in humans are L1...
11.9K
01:31Translation
15.6K
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Proteins are...
Translation Produces the Building Blocks of Life
Proteins are...
15.6K
01:28Forced Transdifferentiation
2.0K
Transdifferentiation, also known as lineage reprogramming, was first discovered by Selman and Kafatos in 1974 in silkmoths. They observed that the moths’ cuticle-producing cells transformed into salt-producing cells. Many such cases of natural transdifferentiation occur in organisms. In humans, pancreatic alpha cells can become beta cells. In newts, the loss of the eye’s lens causes the pigmented epithelial cells to transdifferentiate into the lens cells.
Artificial...
Artificial...
2.0K