Reduced beta-globin gene expression in adult mice containing deletions of locus control region 5' HS-2 or 5' HS-3

Ann N Y Acad Sci. 1998 Jun 30:850:45-53. doi: 10.1111/j.1749-6632.1998.tb10461.x.

Abstract

To gain insights into the functions of individual DNA'se hypersensitive sites within the beta globin locus control region (LCR), we deleted the endogenous 5' HS-2 and HS-3 regions from the mouse germline using homologous recombination techniques. We demonstrated that the deletion of either murine 5' HS-2 or 5' HS-3 reduced the expression of the embryonic epsilon y and beta h1 globin genes minimally in yolk sac-derived erythrocytes, but that both knockouts reduced the output of the adult beta (beta-Major + beta-Minor) globin genes by approximately 30% in adult erythrocytes. When the selectable marker PGK-Neo cassette was retained within either the HS-2 or HS-3 region, a much more severe reduction in globin gene expression was observed at all developmental stages. PGK-Neo was shown to be expressed in an erythroid-specific fashion when it was retained in the HS-3 position. These results show that neither 5' HS-2 nor HS-3 is required for the activity of embryonic globin genes, nor are these sites required for correct developmental switching. However, each site is required for approximately 30% of the total LCR activity associated with adult beta-globin gene expression in adult red blood cells. Each site therefore contains some non-redundant information that contributes to adult globin gene function.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Animals
  • Crosses, Genetic
  • Female
  • Fetal Death
  • Globins / biosynthesis*
  • Globins / genetics*
  • Heterozygote
  • Homozygote
  • Locus Control Region*
  • Male
  • Mice
  • Multigene Family
  • Recombinant Fusion Proteins / biosynthesis
  • Recombination, Genetic
  • Sequence Deletion*

Substances

  • Recombinant Fusion Proteins
  • Globins