Escape from X inactivation of two new genes associated with DXS6974E and DXS7020E

Genomics. 1997 Jul 15;43(2):183-90. doi: 10.1006/geno.1997.4797.

Abstract

Most genes on the X chromosome undergo "inactivation," being transcribed from only one copy in female somatic cells, but several human genes have been shown to be expressed from both the active and the otherwise inactivated homologue. To assess further the fraction and location of genes that escape inactivation, we have analyzed the inactivation status of a set of 73 expressed sequence tags that were derived from the sequencing of cDNA collections and mapped to the X chromosome. Of 33 that were expressed in cultured cells, as assessed by reverse transcription and PCR, 4 (about 12%) were transcribed from both the active and the inactive X chromosome. Two, RPS4 and PCTAIRE1, are already known to escape inactivation; the other 2, of unknown function, include a short cDNA with a full open reading frame and a transcript with no detectable open reading frame. They map, respectively, to Xp11.3-p11.4 and Xp22.2; both regions were previously reported to encode sequences transcribed from the inactive X. Neither transcript has a corresponding sequence on the Y. Thus, they exhibit double dosage in females compared to males, and inactivation status may be inconsequential for these transcribed sequences.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Blotting, Northern
  • Blotting, Southern
  • Chromosome Mapping
  • DNA, Complementary / genetics
  • Dosage Compensation, Genetic*
  • Female
  • Gene Dosage
  • Gene Expression Regulation / genetics
  • Genetic Linkage / genetics
  • Genetic Markers
  • Humans
  • Information Systems
  • Molecular Sequence Data
  • Open Reading Frames / genetics
  • Polymerase Chain Reaction
  • RNA-Directed DNA Polymerase / genetics
  • RNA-Directed DNA Polymerase / metabolism
  • X Chromosome / genetics*
  • Y Chromosome / genetics

Substances

  • DNA, Complementary
  • Genetic Markers
  • RNA-Directed DNA Polymerase

Associated data

  • GENBANK/R39027
  • GENBANK/R44802
  • GENBANK/R51620
  • GENBANK/Y10696
  • GENBANK/Y10697
  • GENBANK/Z39501

Grants and funding