Open Access Research article

The systematic functional characterisation of Xq28 genes prioritises candidate disease genes

Anja Kolb-Kokocinski14, Alexander Mehrle1, Stephanie Bechtel1, Jeremy C Simpson2, Petra Kioschis3, Stefan Wiemann1, Ruth Wellenreuther1 and Annemarie Poustka1*

Author Affiliations

1 Division of Molecular Genome Analysis, German Cancer Research Centre (DKFZ), Im Neuenheimer Feld 580, 69120 Heidelberg, Germany

2 Cell Biology and Biophysics Programme, EMBL Heidelberg, Meyerhofstrasse 1, 69117 Heidelberg, Germany

3 Institute of Molecular Biology and Cell Culture Technology, Mannheim University of Applied Sciences, Windeckstrasse 110, 68163 Mannheim, Germany

4 Embryo Gene Expression Patterns, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK

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BMC Genomics 2006, 7:29  doi:10.1186/1471-2164-7-29

Published: 17 February 2006



Well known for its gene density and the large number of mapped diseases, the human sub-chromosomal region Xq28 has long been a focus of genome research. Over 40 of approximately 300 X-linked diseases map to this region, and systematic mapping, transcript identification, and mutation analysis has led to the identification of causative genes for 26 of these diseases, leaving another 17 diseases mapped to Xq28, where the causative gene is still unknown. To expedite disease gene identification, we have initiated the functional characterisation of all known Xq28 genes.


By using a systematic approach, we describe the Xq28 genes by RNA in situ hybridisation and Northern blotting of the mouse orthologs, as well as subcellular localisation and data mining of the human genes. We have developed a relational web-accessible database with comprehensive query options integrating all experimental data. Using this database, we matched gene expression patterns with affected tissues for 16 of the 17 remaining Xq28 linked diseases, where the causative gene is unknown.


By using this systematic approach, we have prioritised genes in linkage regions of Xq28-mapped diseases to an amenable number for mutational screens. Our database can be queried by any researcher performing highly specified searches including diseases not listed in OMIM or diseases that might be linked to Xq28 in the future.