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Imprinting centers, chromatin structure, and disease.
Hidenobu Soejima1, Joseph Wagstaff
1Division of Molecular Biology and Genetics, Department of Biomolecular Sciences, Saga Medical School, Saga, Japan.
Journal of Cellular Biochemistry
|March 22, 2005
Summary
Genetic imprinting in human diseases like Prader-Willi syndrome/Angelman syndrome and Beckwith-Wiedemann syndrome is regulated by imprinting centers (ICs). These ICs control parent-specific gene expression through epigenetic modifications.
Area of Science:
- Genetics
- Epigenetics
- Human Disease
Background:
- Genetic imprinting plays a crucial role in human diseases.
- Key examples include Prader-Willi syndrome/Angelman syndrome (PWS/AS) and Beckwith-Wiedemann syndrome (BWS).
Purpose of the Study:
- To review the current understanding of imprinting center (IC) function.
- To summarize the epigenetic modifications of ICs in PWS/AS and BWS regions.
Main Methods:
- Review of existing literature on imprinting centers.
- Analysis of epigenetic mechanisms regulating gene expression in specific chromosomal regions.
Main Results:
- Imprinting centers (ICs) in 15q11-q13 (PWS/AS) and 11p15.5 (BWS) regulate long-range, parent-specific gene expression.
- These ICs undergo parent-specific epigenetic marking via DNA and histone covalent modifications.
Conclusions:
- ICs are critical regulatory elements in imprinted disorders.
- Epigenetic modifications of ICs are fundamental to their function in controlling parent-of-origin gene expression.