Jörg T. Epplen

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The genetic aetiologies of at least 20% of autosomal dominant spinocerebellar ataxias (SCAs) have yet to be elucidated. We have recently identified a novel form of autosomal dominant SCA, termed SCA12, in a large pedigree ('R') of German descent. The phenotype is variable, but the prototypical phenotype is that of a classic spinocerebellar ataxia, and the(More)
A polymorphic microsatellite (Y-27H39) based on a (GATA) n repeat was recently discovered on the short arm of the human Y chromosome. We have used a simple technique based on polymerase chain reaction amplification and native polyacrylamide gel electrophoresis followed by highly sensitive silver staining to study the inheritance, the genetic stability and(More)
has become a model insect for testing theories of sexual selection. This contribution summarizes that which has been learned in recent years and presents new data that clearly show that the mating system of P. vulgaris is not simply a resource-defense polygyny, as has previously been thought. In P. vulgaris neither the pattern in food exploitation nor the(More)
BACKGROUND The IL23R gene has been identified as a susceptibility gene for inflammatory bowel disease (IBD) in the North American population. The aim of our study was to test this association in a large German IBD cohort and to elucidate potential interactions with other IBD genes as well as phenotypic consequences of IL23R variants. METHODS Genomic DNA(More)
Hypotheses about the evolution of gregariousness and social organisation in primates are based on ecological explanations as well as on social factors such as conspecific threat (especially infanticide by males). The social explanation fits well with the conditions found in strepsirrhine primates and furthermore explains why infanticide in anthropoid(More)
Idiopathic infantile arterial calcification (IIAC; OMIM 208000) is characterized by calcification of the internal elastic lamina of muscular arteries and stenosis due to myointimal proliferation. We analyzed affected individuals from 11 unrelated kindreds and found that IIAC was associated with mutations that inactivated ecto-nucleotide(More)
Rheumatoid arthritis (RA) and juvenile rheumatoid arthritis (JRA) are complex multifactorial diseases caused by environmental influences and an unknown number of predisposing genes. The present study was undertaken in order to investigate association of polymorphisms in candidate genes with RA and JRA in German subjects. Up to 200 unrelated German RA and(More)
 During a previous investigation an association was found between major histocompatibility complex (MHC)-DRB1 alleles and faecal egg counts following natural infection predominantly involving Ostertagia circumcincta in a flock of Scottish Blackface sheep. To localise the disease-resistance locus we screened the same flock for an MHC class I microsatellite(More)
OBJECTIVE Analyses of families with multiple autoimmune disorders have revealed a functional polymorphism, 620W, in the intracellular tyrosine phosphatase gene PTPN22 as a predisposing factor for type 1 diabetes, seropositive rheumatoid arthritis, systemic lupus erythematosus, and Hashimoto thyroiditis, and the presence of the PTPN22 protein appears to(More)
Asexual reproduction in vertebrates is rare and generally considered an evolutionary dead end. Asexuality is often associated with polyploidy, and several hypotheses have been put forward to explain this relationship. So far, it remains unclear whether polyploidization in asexual organisms is a frequent or a rare event. Here we present a field study on the(More)