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
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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