Selective loss of a DNase I hypersensitive site upstream of the tyrosine aminotransferase gene in mice homozygous for lethal albino deletions

Proc Natl Acad Sci U S A. 1992 Jul 15;89(14):6540-4. doi: 10.1073/pnas.89.14.6540.

Abstract

Several overlapping chromosomal deletions spanning the albino locus in the mouse cause perinatal lethality when homozygous and a block in the transcriptional induction of various unlinked hepatocyte-specific genes. Studies of such lethal albino deletion homozygotes in perinatal stages revealed a deficiency in the transcriptional inducibility of the tyrosine aminotransferase (TAT) gene by glucocorticoids; yet, glucocorticoid receptor and hormone levels were shown to be unaffected. To identify a molecular defect underlying the failure of inducible expression, we examined the chromatin structure of the TAT gene. Whereas in wild-type animals the TAT promoter becomes DNase I hypersensitive at birth, such hypersensitivity fails to develop in lethal albino deletion homozygotes. By contrast, the deletions do not affect the appearance of three DNase I-hypersensitive sites upstream of the TAT promoter in the liver, nor do they affect two hypersensitive sites upstream of the expressed alpha-fetoprotein gene. These findings demonstrate that the abnormality of chromatin structure identified in lethal albino deletion homozygotes occurs on a highly selective basis. Specifically, normal differentiation of the TAT promoter chromatin appears to depend directly or indirectly on the action and product of a gene mapping within the deleted region.

Publication types

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

MeSH terms

  • Albinism / genetics*
  • Animals
  • Animals, Newborn
  • Deoxyribonuclease I
  • Gene Expression Regulation, Enzymologic
  • Genes, Lethal
  • Liver / embryology
  • Liver / enzymology
  • Mice
  • Promoter Regions, Genetic
  • Regulatory Sequences, Nucleic Acid
  • Restriction Mapping
  • Tyrosine Transaminase / genetics*
  • alpha-Fetoproteins / genetics

Substances

  • alpha-Fetoproteins
  • Tyrosine Transaminase
  • Deoxyribonuclease I