The position of integration affects expression of the A gamma-globin-encoding gene linked to HS3 in transgenic mice

Gene. 1995 Jul 28;160(2):165-71. doi: 10.1016/0378-1119(95)00202-h.

Abstract

Proper expression of the human beta-globin (beta Glb) locus is dependent on the presence of a major regulatory element located upstream from the beta Glb gene cluster, the locus control region (LCR). The LCR, as well as the individual DNase-I-hypersensitive sites from which it is composed, have been shown to provide position-of-integration-independent expression in transgenic mice. Here, we report that a transgenic founder carrying multiple integrations of a hypersensitive site 3::A gamma globin gene (HS3::A gamma) construct produced three types of progeny, one with zero A gamma expression in the adult stage, one with minimal A gamma expression (1% of A gamma-expressing cells) and one with abundant A gamma expression (100% A gamma-expressing cells). The possibility that these phenotypes were due to parental imprinting or to DNA rearrangements of the transgene or to point mutations of the HS3 core or the A gamma promoter were excluded. The pattern of inheritance of the three HS3::A gamma transgene phenotypes indicate that the transgene has integrated into three different chromosomes. These results provide direct evidence that the HS3 of the LCR is not sufficient to protect the A gamma gene from position effects excerted by the surrounding chromatin.

Publication types

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

MeSH terms

  • Animals
  • DNA, Recombinant / genetics*
  • Deoxyribonuclease I
  • Female
  • Gene Expression Regulation, Developmental*
  • Globins / genetics*
  • Humans
  • Male
  • Mice
  • Mice, Transgenic
  • Pedigree
  • Promoter Regions, Genetic
  • Recombinant Fusion Proteins / biosynthesis*
  • Recombinant Fusion Proteins / genetics
  • Recombination, Genetic*
  • Regulatory Sequences, Nucleic Acid*

Substances

  • DNA, Recombinant
  • Recombinant Fusion Proteins
  • Globins
  • Deoxyribonuclease I