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Evolution of hemoglobin loci and their regulatory elements.

Sjaak Philipsen1, Ross C Hardison2

  • 1Department of Cell Biology Ee1071b, Erasmus MC, P.O. Box 2040, 3000 CA Rotterdam, The Netherlands.

Blood Cells, Molecules & Diseases
|August 17, 2017
PubMed
Summary

Vertebrate hemoglobin genes are regulated by conserved epigenetic features, including enhancers and transcription factors, ensuring proper gene expression across evolution. These mechanisms, linked to the NPRL3 gene, are vital for hemoglobin production in erythroid cells.

Keywords:
EvolutionGlobin genesLocus control regionsSuper-enhancersTranscriptional regulation

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Area of Science:

  • Evolutionary biology
  • Genetics
  • Molecular biology

Background:

  • All vertebrate species produce multiple hemoglobin forms in erythroid cells.
  • Hemoglobin genes are encoded in two globin gene clusters, with one cluster linked to the NPRL3 gene conserved across vertebrates.
  • This conserved synteny suggests a potential enhancer within the NPRL3 gene regulating globin expression.

Purpose of the Study:

  • To investigate the conserved epigenetic features of globin gene regulatory regions across vertebrate evolution.
  • To understand the role of these features in regulating hemoglobin gene expression.
  • To highlight the availability of resources for studying these epigenetic maps.

Main Methods:

  • Comparative analysis of noncoding DNA sequences and epigenetic features across mammalian species.
  • Identification of conserved elements such as DNase hypersensitive sites and transcription factor binding sites.
  • Correlation of epigenetic maps with gene regulatory activity.

Main Results:

  • Several epigenetic features in globin gene regulatory regions are preserved across vertebrates despite DNA sequence divergence.
  • Key conserved features include multiple DNase hypersensitive sites, with at least one acting as an enhancer.
  • Lineage-restricted transcription factors (GATA1, TAL1) and coactivators (P300) bind to these regions, mediating histone acetylation.

Conclusions:

  • Conserved epigenetic mechanisms play a crucial role in regulating hemoglobin gene expression throughout vertebrate evolution.
  • The NPRL3-linked globin gene cluster and its associated regulatory elements are fundamental for hemoglobin production.
  • Available resources facilitate community access to epigenetic maps for further research and education.