相关实验视频
Updated: Jul 19, 2026

10:20
Single-cell Profiling of Developing and Mature Retinal Neurons
Published on: April 19, 2012
14.1K
结合基因和单细胞表达数据,揭示了细胞类型和新型候选基因,用于 orofacial 裂
Anna Siewert1, Simone Hoeland2, Elisabeth Mangold2
1Institute of Human Genetics, School of Medicine & University Hospital Bonn, University of Bonn, Bonn, Germany. anna.siewert@uni-bonn.de.
Scientific reports
|November 3, 2024
概括
非综合征裂唇与/没有裂 palates (nsCL/P) 涉及特定的上皮和喉弧细胞类型. 对nsCL/P的遗传风险因素集中在这些关键发育细胞群中.
科学领域:
- 发展生物学 发展生物学
- 遗传学 遗传学是一种遗传学.
- 出生缺陷的研究研究研究.
背景情况:
- 带有/没有裂口的非综合性裂口 (nsCL/P) 是一种常见的出生缺陷,其原因复杂.
- 已经确定了与nsCL/P风险相关的45多个遗传基因位点,但具体的基因和受影响的细胞类型基本上是未知的.
研究的目的:
- 为了确定特定的细胞类型和基因参与发展的非综合征裂口与/或没有裂口 (nsCL/P).
- 确定nsCL/P.遗传风险的细胞基础.
主要方法:
- 综合全基因组关联研究 (GWAS) 数据与来自人类胚胎头的单细胞RNA测序 (scRNA-seq).
- 应用单细胞疾病相关性评分 (scDRS) 方法来识别涉及的细胞类型.
- 利用共同表达网络和差异基因表达分析来优先考虑候选基因.
主要成果:
- 鉴定了表皮和HAND2+喉弧 (PA) 细胞作为nsCL/P发育中的关键细胞类型.
- 优先考虑的候选nsCL/P基因,包括CTNND1,PRTG,RPL35A,RAB11FIP1和KRT19,其中一些由GWAS数据支持.
- 证明,很大一部分nsCL/P遗传风险存在于特定的上皮和PA亚细胞类型中.
结论:
- 特定的上皮和喉弧 (PA) 亚细胞类型在非综合征裂唇与/或没有裂 palates (nsCL/P) 发病过程中具有关键作用.
- 这些已识别的细胞类型承担了NSCL/P的遗传风险的很大一部分.
- 这些发现为了解nsCL/P.的遗传病因提供了细胞背景.
相关概念视频
Pleiotropy
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,...
Cell Specific Gene Expression
Multicellular organisms contain a variety of structurally and functionally distinct cell types, but the DNA in all the cells originated from the same parent cells. The differences in the cells can be attributed to the differential gene expression. Liver cells, whose functions include detoxification of blood, production of bile to metabolize fats, and synthesis of proteins essential for metabolism, must express a specific set of genes to perform their functions. Gene expression also varies with...
Combinatorial Gene Control
Combinatorial gene control is the synergistic action of several transcriptional factors to regulate the expression of a single gene. The absence of one or more of these factors may lead to a significant difference in the level of gene expression or repression.
The expression of more than 30,000 genes is controlled by approximately 2000-3000 transcription factors. This is possible because a single transcription factor can recognize more than one regulatory sequence. The specificity in gene...
The expression of more than 30,000 genes is controlled by approximately 2000-3000 transcription factors. This is possible because a single transcription factor can recognize more than one regulatory sequence. The specificity in gene...
Cell Specific Gene Expression
Multicellular organisms contain a variety of structurally and functionally distinct cell types, but the DNA in all the cells originated from the same parent cells. The differences in the cells can be attributed to the differential gene expression. Liver cells, whose functions include detoxification of blood, production of bile to metabolize fats, and synthesis of proteins essential for metabolism, must express a specific set of genes to perform their functions. Gene expression also varies with...

