Global properties and functional complexity of human gene regulatory variation

Area of Science:

• Genomics
• Systems Biology
• Molecular Biology

Background:

• Identifying gene regulatory variants is crucial in modern genomics.
• Genetic mapping of molecular and cellular traits has uncovered widespread regulatory variation.
• Diverse regulatory architectures exist across species.

Purpose of the Study:

• To review insights from a decade of genetic mapping of gene expression variation.
• To discuss extensions of genetic mapping using alternative molecular phenotypes.
• To highlight future directions in understanding gene regulation.

Main Methods:

• Genetic mapping of gene expression variation.
• Analysis of genome-wide regulatory variation.
• Application of alternative molecular phenotypes.

Main Results:

• Genetic mapping has revealed extensive regulatory variation and diverse architectures.
• Alternative molecular phenotypes illuminate biological mechanisms driving expression differences.
• Significant progress has been made in understanding gene regulation.

Conclusions:

• A decade of genetic mapping has significantly advanced our understanding of gene expression variation.
• Future research should focus on integrating diverse molecular phenotypes to elucidate regulatory mechanisms.
• Outstanding problems remain in the functional interpretation of regulatory variants.