Related Experiment Video
Updated: Jun 3, 2026
10:16
Promoter Capture Hi-C: High-resolution, Genome-wide Profiling of Promoter Interactions
Published on: June 28, 2018
The human POMC gene promoter: where do we stand?
F Pecori Giraldi1, F Cassarino, L Pagliardini
1University of Milan, Milan, Italy. fpg@auxologico.it
Journal of Endocrinological Investigation
|April 6, 2011
Summary
Regulation of proopiomelanocortin (POMC) gene expression involves complex interactions of transcription factors and repressors. Understanding POMC promoter activity aids in diagnosing and treating conditions like ACTH deficiency and Cushing's disease.
Area of Science:
- Endocrinology
- Molecular Biology
- Genetics
Background:
- Proopiomelanocortin (POMC) is vital for numerous physiological functions.
- POMC gene regulation is complex, involving promoter elements and transcription factor interplay.
- Recent insights include the role of repressors like Bmp4 in POMC transcription.
Purpose of the Study:
- To review the current understanding of human POMC promoter regulation.
- To focus on POMC promoter activity specifically within corticotropes.
- To highlight the clinical implications of POMC gene regulation knowledge.
Main Methods:
- Review of existing literature on POMC gene regulation.
- Analysis of identified promoter response elements (e.g., glucocorticoid, Nur).
- Examination of transcription factor cooperation and repressor involvement (e.g., Bmp4).
Main Results:
- Key response elements and transcription factor interactions governing POMC promoter activity have been identified.
- Constitutive repressors like Bmp4 play a significant role in regulating POMC transcription.
- Understanding these regulatory mechanisms is crucial for clinical applications.
Conclusions:
- Knowledge of POMC promoter regulation has advanced significantly.
- This understanding facilitates genetic testing for congenital ACTH deficiency (e.g., TPIT mutations).
- It also informs potential therapeutic strategies for conditions like Cushing's disease.
Related Concept Videos
02:40The Eukaryotic Promoter Region
The eukaryotic promoter region is a segment of DNA located upstream of a gene. It contains an RNA polymerase binding site, a transcription start site, and several cis-regulatory sequences. The proximal promoter region is located in the vicinity of the gene and has cis-regulatory sequences and the core promoter. The core promoter is the binding site for RNA polymerase and is usually located between -35 and +35 nucleotides from the transcription start site. The distal promoter regions are...
02:40The Eukaryotic Promoter Region
The eukaryotic promoter region is a segment of DNA located upstream of a gene. It contains an RNA polymerase binding site, a transcription start site, and several cis-regulatory sequences. The proximal promoter region is located in the vicinity of the gene and has cis-regulatory sequences and the core promoter. The core promoter is the binding site for RNA polymerase and is usually located between -35 and +35 nucleotides from the transcription start site. The distal promoter regions are...
01:58Cell 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...
02:11Reporter Genes
Reporter genes are a type of protein-coding gene that are often tagged to a gene of interest. Once inside a target cell, reporter genes usually produce visually identifiable characteristics like fluorescence and luminescence when expressed along with the gene of interest. Thus, reporter genes “report” the presence or absence of genes of interest in an organism, determine the gene expression pattern, or track the physical location of a DNA segment or protein in the cell.
Commonly used reporter...
Commonly used reporter...
02:35Chromatin Position Affects Gene Expression
Chromatin is the massive complex of DNA and proteins packaged inside the nucleus. The complexity of chromatin folding and how it is packaged inside the nucleus greatly influences access to genetic information. Generally, the nucleus' periphery is considered transcriptionally repressive, while the cell's interior is considered a transcriptionally active area.
Topologically Associated Domains (TADs)
The 3-dimensional positioning of chromatin in the nucleus influences the timing and level of...
Topologically Associated Domains (TADs)
The 3-dimensional positioning of chromatin in the nucleus influences the timing and level of...
01:37Epigenetic Regulation
Epigenetic changes alter the physical structure of the DNA without changing the genetic sequence and often regulate whether genes are turned on or off. This regulation ensures that each cell produces only proteins necessary for its function. For example, proteins that promote bone growth are not produced in muscle cells. Epigenetic mechanisms play an essential role in healthy development. Conversely, precisely regulated epigenetic mechanisms are disrupted in diseases like cancer.
X-chromosome...
X-chromosome...