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[Epigenetics and development: genomic imprinting].
1Equipe Empreinte parentale, Département Génétique et Développement, Institut Cochin, 24, rue du Faubourg Saint-Jacques, 75014 Paris, France.
Medecine Sciences : M/S
|April 7, 2005
Summary
Genomic imprinting is a process where genes are expressed based on parental origin. This review summarizes its characteristics, regulation, and links to human diseases.
Area of Science:
- Epigenetics and Gene Regulation
- Mammalian Genomics
Context:
- Genomic imprinting, discovered 20 years ago, involves parent-of-origin-specific gene expression.
- Approximately 60 imprinted genes are known in the mammalian genome.
Purpose:
- To review the main characteristics of genomic imprinting.
- To explore the mechanisms of imprinting, including its epigenetic nature and resetting during gametogenesis.
Summary:
- Imprinting involves differential chromatin structure and DNA methylation, reset during gamete formation.
- Imprinted genes are often clustered and regulated by imprinting centers, CTCF, and non-coding RNAs.
- The exact nature of the imprinting mark remains unknown.
Impact:
- Abnormalities in imprinted gene clusters are linked to human developmental disorders.
- Examples include Prader-Willi, Angelman, and Beckwith-Wiedemann syndromes.
- Understanding imprinting is crucial for diagnosing and potentially treating imprinting-related diseases.