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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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Multi-species Conserved Sequences02:51

Multi-species Conserved Sequences

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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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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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Gene Evolution - Fast or Slow?02:05

Gene Evolution - Fast or Slow?

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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.
In contrast, regions which code...
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Next-generation Sequencing03:00

Next-generation Sequencing

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The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....
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Gene Duplication and Divergence02:37

Gene Duplication and Divergence

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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.
The duplicated copies of the gene are called Paralogs. Paralogs with similar sequences and functions form a gene family. Across several species, a large number of gene families are...
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Related Experiment Video

Updated: Apr 7, 2026

Immunostaining for DNA Modifications: Computational Analysis of Confocal Images
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Immunostaining for DNA Modifications: Computational Analysis of Confocal Images

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The interplay between DNA methylation and sequence divergence in recent human evolution.

Irene Hernando-Herraez1, Holger Heyn2, Marcos Fernandez-Callejo3

  • 1Institute of Evolutionary Biology (UPF-CSIC), PRBB, 08003 Barcelona, Spain irene.hernando@upf.edu.

Nucleic Acids Research
|July 15, 2015
PubMed
Summary
This summary is machine-generated.

Human epigenome evolution is illuminated by identifying differentially methylated regions (DMRs) compared to primates. These regions, often outside genes, reveal interplay between genetic and epigenetic changes driving human-specific DNA methylation.

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Methodology for Accurate Detection of Mitochondrial DNA Methylation
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Area of Science:

  • Genomics
  • Epigenetics
  • Evolutionary Biology

Background:

  • Understanding human epigenome evolution is limited.
  • DNA methylation plays a crucial role in gene regulation.

Purpose of the Study:

  • To identify and characterize human-specific differentially methylated regions (DMRs).
  • To explore the interplay between genetic and epigenetic variation in human evolution.

Main Methods:

  • Whole genome bisulfite sequencing in humans and non-human primates.
  • Analysis of histone modifications and regulatory element enrichment.
  • Investigation of genetic variation within DMRs.

Main Results:

  • Hundreds of human-specific DMRs were identified, with ~25% conserved across human tissues.
  • DMRs were enriched for specific histone modifications and located distal to transcription start sites.
  • Human-specific hypomethylation was associated with endogenous retroviruses.
  • Interplay between genetic variation (substitutions) and epigenetic changes (hypermethylation) was observed in regulatory regions.

Conclusions:

  • Human-specific DNA methylation patterns are influenced by genetic alterations in regulatory motifs.
  • Epigenetic changes, like DNA hypermethylation, are coupled with rapid nucleotide evolution.
  • These findings provide mechanistic insights into human-specific epigenome evolution and non-coding variation interpretation.