相关实验视频
Updated: Jan 16, 2026

09:26
Quantification of Orofacial Phenotypes in Xenopus
Published on: November 6, 2014
10.2K
在CALD1,ESRP1和RBFOX1的变异与口腔裂风险相关
Jenna C Carlson1,2, Xinyi Zhang2, Zeynep Erdogan-Yildirim3
1Department of Human Genetics, School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania, United States of America.
PLoS genetics
|September 30, 2025
概括
这项研究确定了与耳鼻口腔裂 (OFC) 相关的新遗传区域,这是常见的出生缺陷. 这些发现提供了关于胚胎面部发育的分子基础和潜在的新治疗点的见解.
科学领域:
- 遗传学 是一个遗传学.
- 发展生物学 发展生物学
- 出生缺陷的研究研究研究.
背景情况:
- 非综合征性口腔裂 (OFC) 是一种常见的,具有不完全理解的遗传和分子基础的遗传性出生缺陷.
- 虽然胚胎面部发育有特征,但导致OFCs的精确分子机制在很大程度上是未知的,这阻碍了因果因素的识别.
研究的目的:
- 通过进行全基因组,多祖先的研究来确定与非综合征性口腔口腔裂 (OFCs) 相关的新型遗传位置.
- 分析不同的OFC表型 (CLO,CPO,CLP,CL/P,ANY) 以检测亚型特定和共享的遗传影响.
- 发现胚胎面部发育和OFC病因学的新分子机制.
主要方法:
- 在使用METAL.的三个队列 (>14,000个体) 中,对五种OFC表型进行了全基因组的元分析.
- 在特定染色体区域复制已知的OFC风险位点并识别新的关联 (1p36.32,7q33,16p13.3,8q22.1).
- 使用s-MulTiXcan的多组织转录组宽关联研究 (TWAS) 来识别与OFC风险相关的基因预测转录的基因.
主要成果:
- 复制了13个已知的OFC风险位点,并确定了与OFC风险相关的三个新位点 (1p36.32,7q33,16p13.3).
- 在已知的8q22.1位点 (ESRP1) 中发现了一种独立的新兴关联.
- 通过TWAS确定了四个重叠的基因 (CALD1,ESRP1,TANC2,NTN1),这些基因被遗传预测会被转录并与OFC风险相关,有监管效应和面增强剂活性的证据.
结论:
- 该研究成功地确定了新的遗传基因位点和促进OFC风险的基因,扩大了这些常见的出生缺陷的已知的遗传结构.
- 新发现的位置,特别是那些在面发育中具有调节潜力的位置,为胚胎面部发育背后的分子机制提供了关键的见解.
- 这些发现为更深入地了解OFC病因学铺平了道路,并可能为未来的诊断和治疗策略提供信息.
相关概念视频
Cis-regulatory Sequences
11.6K
Cis-regulatory sequences are short fragments of non-coding DNA that are present on the same chromosomes as the genes that they regulate. These fragments serve as binding sites for transcriptional regulators, proteins that are responsible for controlling gene transcription and differential gene expression across cell types in eukaryotes. Cis-regulatory sequences can be close to the gene of interest or thousands of bases away in the DNA sequence; however, those sequences that are further away are...
11.6K
Pleiotropy
43.2K
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,...
43.2K
The Ras Gene
7.0K
The Ras-gene-encoded proteins are regulators of signaling pathways controlling cell proliferation, differentiation, or cell survival. The Ras-gene family in humans constitutes three primary members—the HRas, NRas, and KRas. These genes code for four functionally distinct yet closely related proteins—the HRas, NRas, KRas4A, and KRas4B. The involvement of mutant Ras genes in human cancer was first discovered in 1982 and is among the most common causes of human tumorigenesis.
Ras is a...
Ras is a...
7.0K
Determination
20.8K
During embryogenesis, cells become progressively committed to different fates through a two-step process: specification followed by determination. Specification is demonstrated by removing a segment of an early embryo, “neutrally” culturing the tissue in vitro—for example, in a petri dish with simple medium—and then observing the derivatives. If the cultured region gives rise to cell types that it would normally generate in the embryo, this means that it is specified. In...
20.8K
The Retinoblastoma Gene
4.7K
Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
4.7K
Genetic Lingo
113.8K
Overview
113.8K

