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Related Concept Videos

Phylogeny01:23

Phylogeny

Phylogeny is concerned with the evolutionary diversification of organisms or groups of organisms. A group of organisms with a name is called a taxon (singular). Taxa (plural) can span different levels of the evolutionary hierarchy. For instance, the group containing all birds is a taxon (comprising the class Aves), and the group of all species of daisies (the genus Bellis) is a taxon. Phylogenies can likewise include just one genus (i.e., depict species relationships) or span an entire kingdom.
Limits to Natural Selection01:38

Limits to Natural Selection

Organisms that are well-adapted to their environment are more likely to survive and reproduce. However, natural selection does not lead to perfectly adapted organisms. Several factors constrain natural selection.
Convergent Evolution01:54

Convergent Evolution

Evolution shapes the features of organisms over time, ensuring that they are suited for the environments in which they live. Sometimes, selection pressure leads to the rise of similar but unrelated adaptations in organisms with no recent common ancestors, a process known as convergent evolution.
Evolutionary Relationships through Genome Comparisons02:54

Evolutionary Relationships through Genome Comparisons

Genome comparison is one of the excellent ways to interpret the evolutionary relationships between organisms. The basic principle of genome comparison is that if two species share a common feature, it is likely encoded by the DNA sequence conserved between both species. The advent of genome sequencing technologies in the late 20th century enabled scientists to understand the concept of conservation of domains between species and helped them to deduce evolutionary relationships across diverse...
Synteny and Evolution02:31

Synteny and Evolution

John H. Renwick first coined the term “synteny” in 1971, which refers to the genes present on the same chromosomes, even if they are not genetically linked. The species with common ancestry tend to show conserved syntenic regions. Therefore, the concept of synteny is nowadays used to describe the evolutionary relationship between species.
Around 80 million years ago, the human and mice lineages diverged from the common ancestor. During the course of evolution, the ancestral chromosome underwent...
Multi-species Conserved Sequences02:51

Multi-species Conserved Sequences

Next-generation sequencing technologies have created large genomic databases of a variety of animals and plants. Ever since the human genome project was completed, scientists studied the genome of primates, mammals, and other phylogenetically distant living beings. Such large-scale  studies have provided new insights into the evolutionary relationship between organisms.
Although the genome of each species varies greatly from each other, a few sequences are highly conserved. Such conserved DNA...

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Related Experiment Video

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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

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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
PubMed
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.

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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.