caa a22 4500 397573693 CHVBK 20180308164848.0 cr unu---uuuuu 161202e199603 xx s 000 0 eng 10.1093/hmg/5.3.391 doi (NATIONALLICENCE)oxford-10.1093/hmg/5.3.391 X Inactivation Analysis and DNA Methylation Studies of the Ubiquitin Activating Enzyme E1 and PCTAIRE-1 Genes in Human and Mouse [Elektronische Daten] [Laura Carrel, Christine M. Clemson, John M. Dunn, Andrew P. Miller, Patricia A. Hunt, Jeanne B. Lawrence, Huntington F. 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 fibro-blasts. 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. © 1996 Oxford University Press Carrel Laura Department of Genetics and Center for Human Genetics, Case Western Reserve University School of Medicine, Cleveland, OH 44106, USA aut Clemson Christine M. Department of Cell Biology, University of Massachusetts Medical School, Worcester, MA 01655, USA aut Dunn John M. Department of Genetics and Center for Human Genetics, Case Western Reserve University School of Medicine, Cleveland, OH 44106, USA aut Miller Andrew P. Department of Genetics and Center for Human Genetics, Case Western Reserve University School of Medicine, Cleveland, OH 44106, USA aut Hunt Patricia A. Department of Genetics and Center for Human Genetics, Case Western Reserve University School of Medicine, Cleveland, OH 44106, USA aut Lawrence Jeanne B. Department of Cell Biology, University of Massachusetts Medical School, Worcester, MA 01655, USA aut Willard Huntington F. Department of Genetics and Center for Human Genetics, Case Western Reserve University School of Medicine, Cleveland, OH 44106, USA aut Human Molecular Genetics Oxford University Press 5/3(1996-03), 391-401 0964-6906 5:3<391 1996 5 hmg https://doi.org/10.1093/hmg/5.3.391 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1093/hmg/5.3.391 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Carrel Laura Department of Genetics and Center for Human Genetics, Case Western Reserve University School of Medicine, Cleveland, OH 44106, USA aut NATIONALLICENCE 700 1- Clemson Christine M. Department of Cell Biology, University of Massachusetts Medical School, Worcester, MA 01655, USA aut NATIONALLICENCE 700 1- Dunn John M. Department of Genetics and Center for Human Genetics, Case Western Reserve University School of Medicine, Cleveland, OH 44106, USA aut NATIONALLICENCE 700 1- Miller Andrew P. Department of Genetics and Center for Human Genetics, Case Western Reserve University School of Medicine, Cleveland, OH 44106, USA aut NATIONALLICENCE 700 1- Hunt Patricia A. Department of Genetics and Center for Human Genetics, Case Western Reserve University School of Medicine, Cleveland, OH 44106, USA aut NATIONALLICENCE 700 1- Lawrence Jeanne B. Department of Cell Biology, University of Massachusetts Medical School, Worcester, MA 01655, USA aut NATIONALLICENCE 700 1- Willard Huntington F. Department of Genetics and Center for Human Genetics, Case Western Reserve University School of Medicine, Cleveland, OH 44106, USA aut NATIONALLICENCE 773 0- Human Molecular Genetics Oxford University Press 5/3(1996-03), 391-401 0964-6906 5:3<391 1996 5 hmg Metadata rights reserved CC BY-NC-4.0 http://creativecommons.org/licenses/by-nc/4.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-oxford