caa a22 4500 445861231 CHVBK 20180317145443.0 cr unu---uuuuu 170323e20110801xx s 000 0 eng 10.1007/s00439-011-0994-9 doi (NATIONALLICENCE)springer-10.1007/s00439-011-0994-9 X-chromosome inactivation: molecular mechanisms from the human perspective [Elektronische Daten] [Christine Yang, Andrew Chapman, Angela Kelsey, Jakub Minks, Allison Cotton, Carolyn Brown] X-chromosome inactivation is an epigenetic process whereby one X chromosome is silenced in mammalian female cells. Since it was first proposed by Lyon in 1961, mouse models have been valuable tools to uncover the molecular mechanisms underlying X inactivation. However, there are also inherent differences between mouse and human X inactivation, ranging from sequence content of the X inactivation center to the phenotypic outcomes of X-chromosome abnormalities. X-linked gene dosage in males, females, and individuals with X aneuploidies and X/autosome translocations has demonstrated that many human genes escape X inactivation, implicating cis-regulatory elements in the spread of silencing. We discuss the potential nature of these elements and also review the elements in the X inactivation center involved in the early events in X-chromosome inactivation. Springer-Verlag, 2011 Yang Christine Department of Medical Genetics, Molecular Epigenetics Group, Life Sciences Institute, University of British Columbia, 2350 Health Sciences Mall, V6T 1Z3, Vancouver, BC, Canada aut Chapman Andrew Department of Medical Genetics, Molecular Epigenetics Group, Life Sciences Institute, University of British Columbia, 2350 Health Sciences Mall, V6T 1Z3, Vancouver, BC, Canada aut Kelsey Angela Department of Medical Genetics, Molecular Epigenetics Group, Life Sciences Institute, University of British Columbia, 2350 Health Sciences Mall, V6T 1Z3, Vancouver, BC, Canada aut Minks Jakub Department of Medical Genetics, Molecular Epigenetics Group, Life Sciences Institute, University of British Columbia, 2350 Health Sciences Mall, V6T 1Z3, Vancouver, BC, Canada aut Cotton Allison Department of Medical Genetics, Molecular Epigenetics Group, Life Sciences Institute, University of British Columbia, 2350 Health Sciences Mall, V6T 1Z3, Vancouver, BC, Canada aut Brown Carolyn Department of Medical Genetics, Molecular Epigenetics Group, Life Sciences Institute, University of British Columbia, 2350 Health Sciences Mall, V6T 1Z3, Vancouver, BC, Canada aut Human Genetics Springer-Verlag 130/2(2011-08-01), 175-185 0340-6717 130:2<175 2011 130 439 https://doi.org/10.1007/s00439-011-0994-9 text/html Onlinezugriff via DOI 1 review-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s00439-011-0994-9 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Yang Christine Department of Medical Genetics, Molecular Epigenetics Group, Life Sciences Institute, University of British Columbia, 2350 Health Sciences Mall, V6T 1Z3, Vancouver, BC, Canada aut NATIONALLICENCE 700 1- Chapman Andrew Department of Medical Genetics, Molecular Epigenetics Group, Life Sciences Institute, University of British Columbia, 2350 Health Sciences Mall, V6T 1Z3, Vancouver, BC, Canada aut NATIONALLICENCE 700 1- Kelsey Angela Department of Medical Genetics, Molecular Epigenetics Group, Life Sciences Institute, University of British Columbia, 2350 Health Sciences Mall, V6T 1Z3, Vancouver, BC, Canada aut NATIONALLICENCE 700 1- Minks Jakub Department of Medical Genetics, Molecular Epigenetics Group, Life Sciences Institute, University of British Columbia, 2350 Health Sciences Mall, V6T 1Z3, Vancouver, BC, Canada aut NATIONALLICENCE 700 1- Cotton Allison Department of Medical Genetics, Molecular Epigenetics Group, Life Sciences Institute, University of British Columbia, 2350 Health Sciences Mall, V6T 1Z3, Vancouver, BC, Canada aut NATIONALLICENCE 700 1- Brown Carolyn Department of Medical Genetics, Molecular Epigenetics Group, Life Sciences Institute, University of British Columbia, 2350 Health Sciences Mall, V6T 1Z3, Vancouver, BC, Canada aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 130/2(2011-08-01), 175-185 0340-6717 130:2<175 2011 130 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer