Beyond the Identification of Transcribed Sequences:
Functional, Evolutionary and Expression Analysis
12th International Workshop
October 25-28, 2002
Washington, DC

List of Abstracts * Speakers * Organizers * Authors * Original Announcement

Systematic Functional Analysis of Mouse Genes in the Region Syntenic to Human Xq28

Anja A. Kolb, Hanna Bausbacher, Annemarie Poustka
Division of Molecular Genome analysis, German cancer research center (DKFZ), Heidelberg, Germany
Telephone: +49-6221-424747
Fax: +49-6221-423454

The subchromosomal region Xq28 is a very well characterized part of the human genome with a high gene density. It is of special interest because a large number of diseases have been linked to this region. Although most of the genes have been identified and sequenced, the extent of their characterization at the level of expression and function varies. Some of the Xq28 genes, such as NEMO or DKC1, which cause Incontinentia Pigmenti (IP2) and X-linked recessive Dyskeratosis Congenita (DKC) respectively, have been identified as disease causing genes by our group. To continue our systematic analysis of genes in Xq28, we are investigating the developmental and tissue-specific expression of a number of orthologous mouse genes by RNA in situ hybridization. More than 30 different genes have been examined so far, some with known function like BGN or ATP6s1, but our main focus is on genes with presently unknown function. Limited information has been gained from sequence analysis for some of these genes, e.g. the chloride channel-like gene CLIC2 or the muscle-specific serine kinase MSSK1, whereas others are completely uncharacterized. The information obtained from RNA in situ hybridization experiments will give us useful hints towards understanding the function of such genes. At this stage, most of the genes under investigation show an ubiquitous expression pattern, but for almost half of these genes enhanced hybridization signals were associated with specific nerve cells of brain tissue. Such genes will be potential candidates for brain-related disorders linked to Xq28, such as several known forms of mental retardation syndrome. Our final goal is to evaluate the expression patterns for the majority of genes in Xq28. This will be of value for the identification of remaining disease-associated genes in this genomic region and will also provide integrated knowledge about the functional and evolutionary aspects of this model region.

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