The systematic functional characterisation of Xq28 genes prioritises candidate disease genes

BMC Genomics
A Kolb-KokocinskiA Poustka

Abstract

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 a...Continue Reading

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Citations

Sep 19, 2007·Journal of Wound, Ostomy, and Continence Nursing : Official Publication of the Wound, Ostomy and Continence Nurses Society·I M WilsonS Lennon
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Methods Mentioned

BETA
fluorescence microscopy
gene knock out
PCR
in vitro transcription
transfection

Software Mentioned

GoldenPath human genome browser
MS IIS - webserver
MS
SQL
GeneFinder Map Viewer
BLASTN2
AnalySIS
HUSAR
BLAT search
- Server

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