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Related Concept Videos

Synteny and Evolution02:31

Synteny and Evolution

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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.
Around 80 million years ago, the human and mice lineages diverged from the common ancestor. During the course of evolution, the ancestral...
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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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Gene Duplication and Divergence02:37

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The seminal work of Ohno in 1970 popularized the idea of gene duplication and divergence. DNA sequence comparison studies reveal that a large portion of the genes in bacteria, archaebacteria, and eukaryotes was  generated by gene duplication and divergence, indicating its critical role in evolution.
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Multi-species Conserved Sequences02:51

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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...
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Exon Recombination02:32

Exon Recombination

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The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes. 
Exon shuffling follows “splice frame rules.” Each exon...
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Primer Extension Capture: Targeted Sequence Retrieval from Heavily Degraded DNA Sources
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Selective sweep on human amylase genes postdates the split with Neanderthals.

Charlotte E Inchley1, Cynthia D A Larbey1, Nzar A A Shwan2,3

  • 1Department of Archaeology and Anthropology, University of Cambridge, Cambridge, CB2 3QG, UK.

Scientific Reports
|November 18, 2016
PubMed
Summary
This summary is machine-generated.

Human amylase gene copy number expansion occurred early in our lineage, driven by selection. Some populations later lost copies, linked to low-starch diets.

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Using Phylogenetic Analysis to Investigate Eukaryotic Gene Origin
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Area of Science:

  • Human evolutionary genetics
  • Molecular anthropology
  • Population genetics

Background:

  • Humans possess more amylase gene copies than other primates, suggesting evolutionary adaptation.
  • The timing and selective pressures behind amylase gene copy number expansion remain unclear.

Purpose of the Study:

  • To investigate the evolutionary history of amylase gene copy number variation in humans.
  • To determine when amylase gene copy number expansion occurred and if it was driven by natural selection.

Main Methods:

  • Analysis of amylase gene copy numbers across 480 high-coverage human genomes.
  • Examination of genetic variation in regions flanking the amylase locus.
  • Comparative analysis of genetic diversity in African and non-African populations.

Main Results:

  • Significant depression of genetic diversity was observed in regions surrounding the amylase locus in both African and non-African populations.
  • Evidence supports an early selective sweep after human-Neanderthal divergence, leading to fixation of multiple AMY1 copies.
  • Secondary gene copy number losses were identified, with Northeast Siberian populations showing high frequencies of AMY2A deletion and low AMY1 copy number, correlating with low-starch diets.

Conclusions:

  • The expansion of human amylase gene copy number was an early evolutionary event influenced by positive selection.
  • Dietary shifts, specifically reduced starch intake, are associated with secondary losses of amylase gene copies in certain human populations.