caa a22 4500 39757570X CHVBK 20180308164855.0 cr unu---uuuuu 161202e199607 xx s 000 0 eng 10.1093/hmg/5.7.887 doi (NATIONALLICENCE)oxford-10.1093/hmg/5.7.887 Cloning and Characterization of DXS6673E, a Candidate Gene for X-linked Mental Retardation in Xq13.1 [Elektronische Daten] [Silvère M. van der Maarel, Inge H. J. M. Scholten, Irene Huber, Christophe Philippe, Ron F. Suijkerbuijk, Simone Gilgenkrantz, Juha Kere, Frans P. M. Cremers, Hans-Hilger Ropers] In several families with non-specific X-linked mental retardation (XLMR) linkage analyses have assigned the underlying gene defect to the pericentromeric region of the X chromosome, but none of these genes have been isolated so far. Here, we report on the cloning and characterization of a novel gene, DXS6673E, that maps to Xq13.1, is subject to X-inactivation and is disrupted in the 5′ untranslated region by a balanced X;13 translocation in a mentally retarded female. The DXS6673E gene is highly conserved among vertebrates and its expression is most abundant in brain. It encodes a hydrophilic protein of 1358 amino acids (aa) that does not show sequence homology to other known proteins. A segment of this protein consisting of neutral and hydrophobic aa with a proline residue in every second position may represent a transmembrane domain. Almost complete sequence identity was found between the 3′ end of the DXS6673E gene and two expressed sequence tags (ESTs) and between the 5′ end of the DXS6673E gene and a third EST. Moreover, weaker sequence similarity was observed between coding regions and two other ESTs. © 1996 Oxford University Press van der Maarel Silvère M. Department of Human Genetics, University Hospital Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands aut Scholten Inge H. J. M. Department of Human Genetics, University Hospital Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands aut Huber Irene Department of Human Genetics, University Hospital Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands aut Philippe Christophe The Wellcome Trust Centre for Human Genetics, Oxford, UK aut Suijkerbuijk Ron F. Department of Human Genetics, University Hospital Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands aut Gilgenkrantz Simone Centre Hospitale Universitaire de Nancy, Nancy, France aut Kere Juha Washington University School of Medicine, St. Louis, USA aut Cremers Frans P. M. Department of Human Genetics, University Hospital Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands aut Ropers Hans-Hilger Department of Human Genetics, University Hospital Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands aut Human Molecular Genetics Oxford University Press 5/7(1996-07), 887-897 0964-6906 5:7<887 1996 5 hmg https://doi.org/10.1093/hmg/5.7.887 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1093/hmg/5.7.887 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- van der Maarel Silvère M. Department of Human Genetics, University Hospital Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands aut NATIONALLICENCE 700 1- Scholten Inge H. J. M. Department of Human Genetics, University Hospital Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands aut NATIONALLICENCE 700 1- Huber Irene Department of Human Genetics, University Hospital Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands aut NATIONALLICENCE 700 1- Philippe Christophe The Wellcome Trust Centre for Human Genetics, Oxford, UK aut NATIONALLICENCE 700 1- Suijkerbuijk Ron F. Department of Human Genetics, University Hospital Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands aut NATIONALLICENCE 700 1- Gilgenkrantz Simone Centre Hospitale Universitaire de Nancy, Nancy, France aut NATIONALLICENCE 700 1- Kere Juha Washington University School of Medicine, St. Louis, USA aut NATIONALLICENCE 700 1- Cremers Frans P. M. Department of Human Genetics, University Hospital Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands aut NATIONALLICENCE 700 1- Ropers Hans-Hilger Department of Human Genetics, University Hospital Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands aut NATIONALLICENCE 773 0- Human Molecular Genetics Oxford University Press 5/7(1996-07), 887-897 0964-6906 5:7<887 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