Human Gene Mapping

Human gene mapping.

Chromosomal mapping of the tankyrase gene in human and mouse.

Functional gene description: Tankyrase (TNKS) is a ovel gene with homology to both ankyrins and the cataytic domain of poly(ADP-ribose) polymerase (PARP) that as recently cloned using a yeast two-hybrid screen with he telomere-specific DNA binding protein TRF1 (1). ankyrase protein is located at telomeres, centrosomes, nd nuclear pore complexes (1; S. Smith and T. de Lange, n preparation). In v...

Mapping Gene Associations in Human Mitochondria using Clinical Disease Phenotypes

Nuclear genes encode most mitochondrial proteins, and their mutations cause diverse and debilitating clinical disorders. To date, 1,200 of these mitochondrial genes have been recorded, while no standardized catalog exists of the associated clinical phenotypes. Such a catalog would be useful to develop methods to analyze human phenotypic data, to determine genotype-phenotype relations among many...

Mapping the Genetic Architecture of Gene Expression in Human Liver

Genetic variants that are associated with common human diseases do not lead directly to disease, but instead act on intermediate, molecular phenotypes that in turn induce changes in higher-order disease traits. Therefore, identifying the molecular phenotypes that vary in response to changes in DNA and that also associate with changes in disease traits has the potential to provide the functional...

3D modelling, gene expression mapping and post-mapping image analysis in the developing human brain.

As human brain development proceeds, there are complex changes in size and shape, most notably in the developing forebrain. Molecular technologies enable us to characterise the gene expression patterns that underlie these changes. To interpret these patterns the location of expression must be identified and, often, gene expression patterns compared for several genes or across several developmen...