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Related Concept Videos

The Central Dogma01:25

The Central Dogma

Overview
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Gene Families

Gene families consist of groups of genes proposed to have originated from a common ancestor. Typically these arise through events in which a gene or genes are mistakenly duplicated during cell division. Unlike their parent genes (which are subject to selection pressure to maintain function), these gene copies do not need to preserve their sequences and may evolve at a relatively faster rate.
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Analysis of LINE-1 Retrotransposition at the Single Nucleus Level
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Protein-Coding Genes' Retrocopies and Their Functions.

Magdalena Regina Kubiak1, Izabela Makałowska2

  • 1Department of Integrative Genomics, Institute of Anthropology, Faculty of Biology, Adam Mickiewicz University in Poznan, 61-614 Poznan, Poland. magdalena.kubiak@amu.edu.pl.

Viruses
|April 14, 2017
PubMed
Summary

Transposable elements drive genome evolution by creating functional gene copies (retrocopies). These retrocopies impact gene expression, protein diversity, and are linked to human diseases like cancer.

Keywords:
gene duplicationgenome evolutionretrocopyretrogeneretrotranspositionretrotransposon

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Area of Science:

  • Genomics
  • Molecular Biology
  • Evolutionary Biology

Background:

  • Transposable elements (TEs) are DNA sequences capable of changing their position within a genome.
  • Reverse transcriptase, an enzyme encoded by some TEs, facilitates the creation of DNA copies from RNA templates.
  • The functional significance of TEs in genome evolution is increasingly recognized.

Purpose of the Study:

  • To explore the significant role of transposable elements in shaping transcriptomes, promoters, and proteomes.
  • To investigate the mechanisms and consequences of retrotransposition of protein-coding genes.
  • To highlight the involvement of retrocopies in gene regulation, protein evolution, and human diseases.

Main Methods:

  • Analysis of retrotransposition mechanisms involving reverse transcriptase from non-LTR and LTR transposons.
  • Examination of the evolutionary fate of retrocopies, including relaxed selection, dormancy, and acquisition of function.
  • Investigation of functional roles of retrogenes, such as protein coding, alternative splicing, and regulatory functions.

Main Results:

  • Transposable elements significantly contribute to transcriptome, promoter, and proteome evolution.
  • Functional retrocopies (retrogenes) arise from retrotransposition and can acquire novel functions or replace ancestral genes.
  • Retrogenes participate in diverse biological processes, including encoding proteins, alternative splicing, and epigenetic regulation.
  • Many retrocopies are implicated in human diseases, particularly various forms of cancer.

Conclusions:

  • Transposable elements are crucial drivers of genome evolution, generating novel genetic and functional diversity.
  • Functional retrocopies play multifaceted roles in gene regulation and protein evolution.
  • The study underscores the link between retrocopies derived from transposable elements and human pathologies, especially cancer.