More than 40 diseases, most of which primarily affect the nervous system, are caused by
expansions of simple sequence repeats dispersed throughout the human genome …

Accumulating evidence suggests that many classes of DNA repeats exhibit attributes that
distinguish them from other genetic variants, including the fact that they are more liable to …

The budding yeast Saccharomyces cerevisiae has been the principal organism used in
experiments to examine genetic recombination in eukaryotes. Studies over the past decade …

Repeated elements can be widely abundant in eukaryotic genomes, composing more than
50% of the human genome, for example. It is possible to classify repeated sequences into …

Expansions of gene-specific DNA tandem repeats (TRs), first described in 1991 as a
disease-causing mutation in humans, are now known to cause> 60 phenotypes, not just …

Low molecular-mass plasma proteins play a key role in health and disease. Cystatin C is an
endogenous cysteine proteinase inhibitor belonging to the type 2 cystatin superfamily. The …

Finland, located at the edge of the inhabitable world, is one of the best-studied genetic
isolates. The characteristic features of population isolates—founder effect, genetic drift and …

Tandem repeats are common features of both prokaryote and eukaryote genomes, where
they can be found not only in intergenic regions but also in both the noncoding and coding …

Juvenile myoclonic epilepsy (JME) is the most frequent cause of hereditary grand mal
seizures,. We previously mapped and narrowed a region associated with JME on …

Background Individuals with Down syndrome (DS) have a predisposition to leukemia and
possibly other cancers and excess mortality from other conditions, but information on the …