Human Molecular Genetics, Vol 5, 887-897, Copyright © 1996 by Oxford University Press
SM van der Maarel, IH Scholten, I Huber, C Philippe, RF Suijkerbuijk, S Gilgenkrantz, J Kere, FP Cremers and HH 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.
ARTICLES
Cloning and characterization of DXS6673E, a candidate gene for X-linked mental retardation in Xq13.1
Department of Human Genetics, University Hospital Nijmegen, The Netherlands.
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