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A genome-wide association study identifies novel risk loci for type 2 diabetes
Four loci containing variants that confer type 2 diabetes risk are identified and constitute proof of principle for the genome-wide approach to the elucidation of complex genetic traits.
Genetic analyses from ancient DNA.
The precautions and criteria necessary to ascertain to the greatest extent possible that results represent authentic ancient DNA sequences are discussed, which highlight some significant results and areas of promising future research.
EPIGENETIC REGULATION OF CELLULAR MEMORY BY THE POLYCOMB AND TRITHORAX GROUP PROTEINS
Current ideas on the protein and DNA components of this transcriptional memory system are reviewed and how they interact dynamically with each other to orchestrate cellular memory for several hundred genes are reviewed.
DNA sequences from multiple amplifications reveal artifacts induced by cytosine deamination in ancient DNA.
- M. Hofreiter, V. Jaenicke, D. Serre, A. von Haeseler, S. Pääbo
- BiologyNucleic acids research
- 1 December 2001
It is shown that DNA molecules amplified by PCR from DNA extracted from animal bones and teeth that vary in age between 25 000 and over 50 000 years carry C-->T and G-->A substitutions, which are due to the occurrence of modified deoxycytidine residues in the template DNA.
No Evidence of Neandertal mtDNA Contribution to Early Modern Humans
The biomolecular preservation of four Neandertals and of five early modern humans was good enough to suggest the preservation of DNA, and in combination with current mtDNA data, this excludes any large genetic contribution by Ne andertals to early modern human humans, but does not rule out the possibility of a smaller contribution.
Genetic variant near IRS1 is associated with type 2 diabetes, insulin resistance and hyperinsulinemia
The C allele of rs2943641 was associated with insulin resistance and hyperinsulinemia in 14,358 French, Danish and Finnish participants from population-based cohorts; this allele was also associated with reduced basal levels of IRS1 protein and decreased insulin induction of IRS 1-associated phosphatidylinositol-3-OH kinase activity in human skeletal muscle biopsies.
Lack of phylogeography in European mammals before the last glaciation.
- M. Hofreiter, D. Serre, S. Pääbo
- Biology, Environmental ScienceProceedings of the National Academy of Sciences…
- 31 August 2004
It is suggested that at the beginning of the last glacial maximum, little phylogeographic patterns existed in European mammals over most of their geographical ranges and that current phyloGeographic patterns are transient relics of thelast glaciation.
Neanderthals in central Asia and Siberia
To determine how far to the east Neanderthals ranged, mtDNA sequences from hominid remains found in Uzbekistan and in the Altai region of southern Siberia are determined and it is shown that the DNA sequences from these fossils fall within the European Neanderthal mtDNA variation.
The Neandertal type site revisited: Interdisciplinary investigations of skeletal remains from the Neander Valley, Germany
- R. Schmitz, D. Serre, F. Smith
- GeologyProceedings of the National Academy of Sciences…
- 13 September 2002
This work reports excavations of cave sediments that were removed from the Feldhofer caves in 1856 that yielded over 60 human skeletal fragments, along with a large series of Paleolithic artifacts and faunal material that represents the first interdisciplinary analysis of Neandertal remains incorporating genetic, direct dating, and morphological dimensions simultaneously.
Differential Allelic Expression in the Human Genome: A Robust Approach To Identify Genetic and Epigenetic Cis-Acting Mechanisms Regulating Gene Expression
A robust and high-throughput method to directly measure differences in allelic expression for a large number of genes using the Illumina Allele-Specific Expression BeadArray platform and quantitative sequencing of RT-PCR products is described and successfully captures expression differences resulting from both genetic and epigenetic cis-acting mechanisms.