Journal Article

Cloning and Characterization of <i>DXS6673E</i>, a Candidate Gene for X-linked Mental Retardation in Xq13.1

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 and Hans-Hilger Ropers

in Human Molecular Genetics

Volume 5, issue 7, pages 887-897
Published in print July 1996 | ISSN: 0964-6906
Published online July 1996 | e-ISSN: 1460-2083 | DOI: http://dx.doi.org/10.1093/hmg/5.7.887
Cloning and Characterization of DXS6673E, a Candidate Gene for X-linked Mental Retardation in Xq13.1

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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.

Journal Article.  6409 words.  Illustrated.

Subjects: Genetics and Genomics

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