Developmental and species-divergent globin switching are driven by BCL11A

Nature. 2009 Aug 27;460(7259):1093-7. doi: 10.1038/nature08243. Epub 2009 Aug 5.

Abstract

The contribution of changes in cis-regulatory elements or trans-acting factors to interspecies differences in gene expression is not well understood. The mammalian beta-globin loci have served as a model for gene regulation during development. Transgenic mice containing the human beta-globin locus, consisting of the linked embryonic (epsilon), fetal (gamma) and adult (beta) genes, have been used as a system to investigate the temporal switch from fetal to adult haemoglobin, as occurs in humans. Here we show that the human gamma-globin (HBG) genes in these mice behave as murine embryonic globin genes, revealing a limitation of the model and demonstrating that critical differences in the trans-acting milieu have arisen during mammalian evolution. We show that the expression of BCL11A, a repressor of human gamma-globin expression identified by genome-wide association studies, differs between mouse and human. Developmental silencing of the mouse embryonic globin and human gamma-globin genes fails to occur in mice in the absence of BCL11A. Thus, BCL11A is a critical mediator of species-divergent globin switching. By comparing the ontogeny of beta-globin gene regulation in mice and humans, we have shown that alterations in the expression of a trans-acting factor constitute a critical driver of gene expression changes during evolution.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Carrier Proteins / genetics
  • Carrier Proteins / metabolism*
  • DNA-Binding Proteins
  • Embryo, Mammalian / metabolism
  • Evolution, Molecular
  • Fetus / metabolism
  • Gene Expression Regulation, Developmental*
  • Gene Silencing
  • Globins / genetics*
  • Hematopoiesis
  • Humans
  • Mice
  • Nuclear Proteins / genetics
  • Nuclear Proteins / metabolism*
  • Repressor Proteins
  • Species Specificity
  • beta-Globins / genetics
  • gamma-Globins / genetics

Substances

  • BCL11A protein, human
  • Bcl11a protein, mouse
  • Carrier Proteins
  • DNA-Binding Proteins
  • Nuclear Proteins
  • Repressor Proteins
  • beta-Globins
  • gamma-Globins
  • Globins