Modifiers and Readers of DNA Modifications and Their Impact on Genome Structure, Expression, and Stability in Disease

Area of Science:

• Epigenetics and Molecular Biology
• Genomics and Gene Regulation
• Mammalian DNA Modifications

Background:

• Recent expansion of naturally occurring cytosine modifications in mammals.
• Identification of enzymes and proteins involved in reading and translating these modifications.
• Emergence of the 'cytosine code' hypothesis.

Purpose of the Study:

• Summarize the current state-of-the-art on DNA modifications.
• Review enzyme families responsible for setting cytosine modifications.
• Examine protein families that read and translate these modifications, focusing on mouse homologs.

Main Methods:

• Focus on functional and mechanistic studies.
• Analysis of mammalian cell data.
• Inclusion of studies on corresponding mouse models.

Main Results:

• Overview of established and newly identified DNA modification pathways.
• Detailed examination of enzyme and protein families involved.
• Emphasis on conserved mechanisms and functions in mammals.

Conclusions:

• The expanding landscape of cytosine modifications suggests a complex regulatory system.
• The 'cytosine code' plays a crucial role in higher-order chromatin organization, genome activity, and stability.
• Further research in mammalian systems, particularly mouse models, is vital for understanding human diseases.