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Related Concept Videos

Evolutionary Relationships through Genome Comparisons02:54

Evolutionary Relationships through Genome Comparisons

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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...
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Synteny and Evolution02:31

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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.
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Comparing Copy Number Variations and SNPs02:26

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Gene Evolution - Fast or Slow?02:05

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The genomes of eukaryotes are punctuated by long stretches of sequence which do not code for proteins or RNAs. Although some of these regions do contain crucial regulatory sequences, the vast majority of this DNA serves no known function. Typically, these regions of the genome are the ones in which the fastest change, in evolutionary terms, is observed, because there is typically little to no selection pressure acting on these regions to preserve their sequences.
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Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration
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Comparative Genomic Analysis Identifies Great-Ape-Specific Structural Variants and Their Evolutionary Relevance.

Bin Zhou1,2,3, Yaoxi He1,2, Yongjie Chen1,2,3

  • 1State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, Yunnan, China.

Molecular Biology and Evolution
|August 11, 2023
PubMed
Summary

Great apes evolved unique traits through genetic changes. Researchers found thousands of great ape-specific structural variants (GSSVs) that may explain these evolutionary innovations, particularly in brain development.

Keywords:
body sizebraincomparative genomicsgreat apesstructural variant

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Area of Science:

  • Genomics
  • Evolutionary Biology
  • Primate Genetics

Background:

  • The genomic underpinnings of phenotypic innovations during great ape evolution remain largely unknown.
  • Key great ape traits include increased body size, larger brain volume, enhanced cognition, and dietary diversification.

Purpose of the Study:

  • To identify the genomic basis of evolutionary changes in the great ape lineage.
  • To investigate the role of structural variants in shaping unique great ape characteristics.

Main Methods:

  • Comparative genomic analysis of high-quality genome assemblies from great apes (including humans), gibbons, and macaques.
  • Identification and functional annotation of great ape-specific structural variants (GSSVs).
  • Analysis of brain-related GSSVs, including enhancer activity and gene expression.

Main Results:

  • Discovered 15,885 great ape-specific structural variants (GSSVs).
  • Identified eight coding GSSVs that create novel proteins (e.g., ACAN, CMYA5).
  • Found enrichment of GSSV-related genes in development, morphogenesis, neurogenesis, and neural network formation.
  • Observed great ape-specific alterations in brain enhancer activity and gene expression linked to GSSVs, affecting genes like NOL3.

Conclusions:

  • Structural variants played a significant role in the phenotypic innovations observed during the origin of the great ape lineage.
  • GSSVs likely contributed to altered brain development and function, shaping unique great ape traits.
  • This study provides insights into the evolutionary impact of structural variants on primate evolution.