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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
Published on: August 15, 2019
A high-resolution map of human evolutionary constraint using 29 mammals.
Kerstin Lindblad-Toh1, Manuel Garber, Or Zuk
1Broad Institute of Harvard and Massachusetts Institute of Technology, 7 Cambridge Center, Cambridge, Massachusetts 02142, USA. kersli@broadinstitute.org
Nature
|October 14, 2011
Summary
Comparative genome analysis of 29 eutherian species reveals conserved elements, identifying potential regulatory regions and disease-associated variants. This study enhances our understanding of genome evolution and function.
Area of Science:
- Genomics
- Evolutionary Biology
- Bioinformatics
Background:
- Comparative genomics is crucial for interpreting genome function.
- Understanding conserved genomic elements provides insights into evolutionary pressures.
Purpose of the Study:
- To sequence and comparatively analyze 29 eutherian genomes.
- To identify and characterize conserved genomic elements and their functions.
Main Methods:
- Whole-genome sequencing of 29 eutherian species.
- Comparative genomic analysis utilizing evolutionary signatures.
- Integration with experimental datasets to infer function.
Main Results:
- Confirmed purifying selection acting on at least 5.5% of the human genome, with constrained elements covering ~4.2%.
- Identified candidate functions for ~60% of constrained bases, including new coding exons, RNA structures, and regulatory elements (promoters, enhancers, insulators).
- Discovered primate- and human-accelerated elements, positively selected amino acid residues, and exapted mobile elements.
Conclusions:
- The study provides a comprehensive catalog of conserved elements across eutherian genomes.
- Findings offer insights into genome evolution, regulatory element function, and potential roles in human health and disease.
- Identified disease-associated variants within conserved regions highlight clinical relevance.
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