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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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Related Experiment Video

Updated: Dec 5, 2025

A Genetic Screen to Isolate Toxoplasma gondii Host-cell Egress Mutants
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Frequent birth-and-death events throughout perforin-1 evolution.

Miguel Araujo-Voces1, Víctor Quesada2,3

  • 1Departamento de Bioquímica y Biología Molecular - IUOPA, Universidad de Oviedo, C/ Fernando Bongera S/N, Oviedo, 33006, Spain.

BMC Evolutionary Biology
|October 20, 2020
PubMed
Summary
This summary is machine-generated.

Perforin-1 gene evolution reveals complex birth-and-death events across diverse species. Analysis of over 400 perforin genes shows gene duplication, pseudogenization, and amplification in mammals, reptiles, and fish.

Keywords:
Assisted annotationBirth-and-deathImmunePerforin-1Tandem duplication

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Area of Science:

  • Genomics
  • Evolutionary Biology
  • Immunology

Background:

  • Perforin-1 is crucial for the immune system by creating pores in cell membranes.
  • The perforin gene has undergone complex evolutionary events like amplification and pseudogenization.
  • Recent genomic data has enabled detailed annotation of perforin-1 homologs across many species.

Purpose of the Study:

  • To annotate perforin-1 homologs in over eighty species.
  • To investigate the evolutionary history and patterns of the perforin gene.
  • To understand the diversity of perforin gene structures and copy numbers across vertebrate classes.

Main Methods:

  • Assisted annotation of new genomic assemblies.
  • Comparative genomics analysis of perforin-1 homologs.
  • Identification and characterization of perforin gene loci and pseudogenes.

Main Results:

  • Over 400 perforin genes were annotated across mammals, reptiles, birds, amphibians, and fishes.
  • Mammals typically have one perforin locus, with some showing gene expansions.
  • Reptiles and fish exhibit multiple perforin loci with varying copy numbers and exon/intron structures.

Conclusions:

  • The evolution of perforin is characterized by complex birth-and-death processes.
  • Gene duplication, pseudogenization, and amplification are key events in perforin evolution.
  • Perforin-1 loci are conserved across mammals, reptiles, amphibians, and teleosts, indicating shared ancestry.