Point mutation associated with hereditary persistence of fetal hemoglobin decreases RNA polymerase III transcription upstream of the affected gamma-globin gene

Mol Cell Biol. 1986 Sep;6(9):3278-82. doi: 10.1128/mcb.6.9.3278-3282.1986.

Abstract

A base substitution in the 5'-flanking region of a human fetal globin gene is associated with abnormal fetal hemoglobin production. It also reduces by 5- to 10-fold in vitro transcription of the gene by RNA polymerase III. We discuss potential links between polymerase III transcription and abnormal hemoglobin production.

Publication types

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

MeSH terms

  • Amanitins / pharmacology
  • Base Sequence
  • DNA-Directed RNA Polymerases / metabolism*
  • Fetal Hemoglobin / genetics*
  • Genes* / drug effects
  • Globins / genetics*
  • Humans
  • Mutation*
  • RNA Polymerase III / metabolism*
  • Transcription, Genetic*

Substances

  • Amanitins
  • Globins
  • Fetal Hemoglobin
  • DNA-Directed RNA Polymerases
  • RNA Polymerase III