The systematic functional characterisation of Xq28 genes prioritises candidate disease genes.

ABSTRACT:

Background

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.

Results

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 hu

SUBMITTER: Kolb-Kokocinski A 

PROVIDER: S-EPMC1431524 | biostudies-literature | 2006 Feb

REPOSITORIES: biostudies-literature