Tissue-Specific Expression Analysis by RNA in situ Hybridisation of Mouse Genes in the Region Syntenic to Human Xq28

Bernhard Korn
RZPD REsource Center for Genome Research
Im Neuenheimer Feld 506
69120 Heidelberg Germany
telephone: +49 (0)6221 42 4700
fax: +49 (0)6221 42 4704
email: b.korn@dkfz-heidelberg.de
presenter3 = Kolb, Anja

Anja A. Kolb1, Nina S. Heiss1, Petra Kioschis1,2, Annemarie Poustka1

1Deutsches Krebsforschungszentrum, Heidelberg, Germany
2Fachhochschule Mannheim, Hochschule für Technik und Gestaltung, Mannheim, Germany

The Xq28 region is a very well characterised part of the human genome mainly because it harbours a large number of disease genes. Although most of these genes have been identified and sequenced, the extent of characterisation at the level of expression and function varies. 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 hybridisation. One example is the DKC1 gene which is responsible for causing X-linked recessive dyskeratosis congenita (DKC) and the allelic variant of the disease, Hoyeraal-Hreidarsson syndrome (HHS). RNA in situ hybridisations revealed a ubiquitous expression pattern of the Dkc1 transcript, although considerably higher expression levels were detected in embryonic epithelial and neuroectodermal tissues, as well as in differentiated neurons of the adult brain. This dispels the notion that the major functions of the DKC1 gene are confined to rapidly dividing cells and is in agreement with some of the phenotypic features of DKC and HHS patients. This will aid in gaining a better understanding of the pathomechanism of the disease and will complement our studies on the respective mouse models.

Further, we have examined the tissue-specific and cell-type specific expression pattern of the chloride channel-like gene, CLIC2, and XAP139, a gene of unknown function. This is providing useful hints towards understanding the function of these genes. We hope to carry out such analyses for the majority of genes in Xq28. In the long run such data will be of value not only in identifying the remaining disease-associated genes in Xq28, but also in providing us with integrated knowledge about the functional and evolutionary aspects of this model region.

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