Human Molecular Genetics, Vol 5, 391-401, Copyright © 1996 by Oxford University Press
L Carrel, CM Clemson, JM Dunn, AP Miller, PA Hunt, JB Lawrence and HF Willard
Previously reported data on the X inactivation status of the ubiquitin
activating enzyme E1 (UBE1) gene have been contradictory, and the issue has
remained unsettled. Here we present three lines of evidence that UBE1 is
expressed from the inactive X chromosome and therefore escapes X
inactivation. First, by RNA in situ hybridization, UBE1 RNA is detected
from both the active and inactive X chromosomes in human female
fibroblasts. Second, UBE1 is expressed in a large panel of somatic cell
hybrids retaining inactive human X chromosomes, including two independent
hybrids that did not require UBE1 expression for survival. And third, sites
at the 5' end of UBE1 are unmethylated on both active and inactive X
chromosomes, consistent with the gene escaping inactivation. In order to
address whether other genes that escape inactivation map to the same region
of the X chromosome, we have also examined the expression of genes mapping
adjacent to UBE1. The gene for PCTAIRE-1 (PCTK1) maps within 5 kb of UBE1
and similarly escapes X inactivation by the somatic cell hybrid assay,
whereas six other genes that are within 1 Mb of UBE1 in Xp11.23 are
silenced on the inactive X chromosome. Comparative mapping studies of the
homologous loci in mouse establish that Ube1-x and Pctk1 are also within
close physical proximity on the murine X chromosome, and expression studies
of the Pctk1 gene determine that, similar to Ube1-x, it is subject to X
inactivation in mouse. Methylation of CpG residues at restriction sites at
the 5' end of both genes on the murine inactive X chromosome is consistent
with both genes being subject to X inactivation in mouse, in contrast to
their expression status in humans.
ARTICLES
X inactivation analysis and DNA methylation studies of the ubiquitin activating enzyme E1 and PCTAIRE-1 genes in human and mouse
Department of Genetics and Center for Human Genetics, Case Western Reserve University School of Medicine, Cleveland, OH 44106, USA.
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