相关实验视频
Updated: Jul 4, 2025
09:46
Accessing the Cytotoxicity and Cell Response to Biomaterials
Published on: July 8, 2021
3.7K
一种新奇的ODAPH突变导致非完美的乳腺生成及其在人类牙组织中的表达
Shih-Kai Wang1,2, Zhe-Hao Lee1, Parissa Aref3
1Department of Dentistry, National Taiwan University School of Dentistry, Taipei, Taiwan.
Journal of dental sciences
|February 2, 2024
概括
在ODAPH基因的新型突变导致了自体逆向低化无完美的氨基生成 (AI). 这一发现凸显了ODAPH在牙面膜形成和牙肉质发育中的关键作用.
科学领域:
- 遗传学 是一个遗传学.
- 发育生物学 发展生物学
- 口腔生物学 口腔生物学
背景情况:
- 牙不完美化 (AI) 包含导致牙面膜形的遗传疾病,分为低可塑性,低成熟性和低性类型.
- 自体逆性低化AI在牙健康和美学方面提出了重大挑战.
研究的目的:
- 在一个血缘亲属的伊朗家庭中识别自体逆向低化AI的遗传原因.
- 阐明在牙形成中发现的遗传缺陷背后的分子机制.
主要方法:
- 受影响个体中牙缺陷的临床特征.
- 整体外基因组测序以检测引起疾病的突变.
- 微基因测试和RT-PCR测试以评估突变后果和牙组织中的基因表达.
主要成果:
- 在ODAPH基因 (NM_178497.5:c.67+1del) 中的一种新型同卵性单核酸删除被确定为AI的原因.
- 突变导致ODAPH转录变体 (TV1和TV2) 中的移变体,影响蛋白质生产.
- 发现ODAPH TV2在发育和剥皮母牙的牙肉质中得到表达.
结论:
- 功能丧失的ODAPH突变是AI类型IIIB (低化,自体相衰退) 的原因,而不是IIA4.4类型.
- ODAPH TV2蛋白质异型对牙质形成至关重要,并可能影响牙-肉复合体的发展.
- 基因检测对于诊断遗传性牙缺陷至关重要,因为AI的基因异质性和可变的基因型-表型相关性.
相关概念视频
01:33Pleiotropy
40.5K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
40.5K
03:14Notch Signaling Pathway
4.3K
The Notch signaling pathway is a major intracellular signaling pathway that is highly conserved over a broad spectrum of metazoan species. It stands unique from other intracellular signaling mechanisms in animals because notch protein itself acts as the receptor as well as the primary signaling molecule.
The Notch gene came into the limelight in 1914 after the discovery that its mutation in Drosophila melanogaster leads to a serrated (or "notched") wing margin phenotype. It was not...
The Notch gene came into the limelight in 1914 after the discovery that its mutation in Drosophila melanogaster leads to a serrated (or "notched") wing margin phenotype. It was not...
4.3K
01:43Incomplete Dominance
22.6K
Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
22.6K