在KCTD1中的遗传变异与孤立的牙异常有关
Cholaporn Ruangchan1,2, Chumpol Ngamphiw3, Annop Krasaesin4
1Center of Excellence in Medical Genetics Research, Chiang Mai University, Chiang Mai 50200, Thailand.
International journal of molecular sciences
|May 25, 2024
概括
KCTD1中的遗传变异与孤立的牙异常有关,影响牙发育途径. 这项研究确定了与牙症和牙产生等疾病相关的新型KCTD1变异.
科学领域:
- 遗传学 是一个遗传学.
- 发展生物学 发展生物学
- 牙科 牙科是指牙科的专业.
背景情况:
- KCTD1对于调节Sonic Hedgehog (SHH) 和WNT/β-catenin信号通路至关重要,这对牙发育至关重要.
- 以前的研究强调了KCTD1在发育过程中的作用,但其与孤立的牙异常的具体联系仍然未被探索.
研究的目的:
- 研究KCTD1基因中的遗传变异与孤立的牙异常之间的潜在关联.
- 识别和描述各种牙异常的患者的KCTD1变异.
主要方法:
- 对362名患有单独牙异常的患者进行了临床和放射检查.
- 整体外基因组测序用于识别KCTD1.1中的遗传变异.
- 免疫组织化学分析以评估牙发育组织中的KCTD1表达.
- 功能性研究,以评估已识别的变体对WNT信号传递的影响.
主要成果:
- 发现有两个具有孤立牙异常的家族携带罕见 (p.Arg241Gln) 或新型 (p.Pro243Ser) KCTD1.1变异.
- 这些变体与牙异常分离,包括牛牙,未分离/长根,牙生殖,超数牙和牙.
- 在赫特维格上皮质根盖中观察到高KCTD1表达,支持其在根部发育中的作用.
- 功能性研究表明,p.Arg241Gln变种影响β-catenin水平和正规WNT信号传递.
结论:
- 这项研究提供了第一个证据,将KCTD1基因变异与孤立的牙异常联系起来.
- 在C端域中发现的KCTD1变异可能会破坏蛋白相互作用或SUMOylation,导致异常WNT-SHH-BMP信号和牙缺陷.
- 在某些孤立的牙异常的病因学中,KCTD1被认为是一个重要的基因.
关键词:
这里是海波登西亚.口腔外静脉形成的口腔外静脉.根的异常情况.一个超数的牙.taurodontism taurodontism taurodontism taurodontism taurodontism taurodontism taurodontism taurodontism taurodontism taurodontism taurodontism taurodontism taurodontism taurodontism taurodontism taurodontism taurodontism taurodontism taurodontism taurodontism taurodontism taurodontism taurodontism taurodontism taurodontism taurodontism taurodontism taurodontism taurodontism牙生长过程中的牙.更多相关视频
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