Evaluation of the predictive capacity of DNA variants associated with straight hair in Europeans

Pospiech,E.; Karlowska-Pik,J.; Marcinska,M.; Abidi,S.; Andersen,J.D.; vandenBerge,M.; Carracedo,A.; Eduardoff,M.; Freire-Aradas,A.; Morling,N.; Sijen,T.; Skowron,M.; Sochtig,J.; Syndercombe-Court,D.; Weiler,N.; Schneider,P.M.; Ballard,D.; Borsting,C.; Parson,W.; Phillips,C.; Branicki,W.; E.UROFORGEN-NoEConsortium; DNA-based prediction of hair morphology, defined as straight, curly or wavy hair, could contribute to an improved description of an unknown offender and allow more accurate forensic reconstructions of physical appearance in the field of forensic DNA phenotyping. Differences in scalp hair morphology are significant at the worldwide scale and within Europe. [Read More]

Evidence for frequent and tissue-specific sequence heteroplasmy in human mitochondrial DNA

Naue,J.; Horer,S.; Sanger,T.; Strobl,C.; Hatzer-Grubwieser,P.; Parson,W.; Lutz-Bonengel,S.; Mitochondrial point heteroplasmy is a common event observed not only in patients with mitochondrial diseases but also in healthy individuals. We here report a comprehensive investigation of heteroplasmy occurrence in human including the whole mitochondrial control region from nine different tissue types of 100 individuals. Sanger sequencing was used as a standard method and results were supported by cloning, minisequencing, and massively parallel sequencing. [Read More]

Exploring the relationship between lifestyles, diets and genetic adaptations in humans

Valente,C.; Alvarez,L.; Marks,S.J.; Lopez-Parra,A.M.; Parson,W.; Oosthuizen,O.; Oosthuizen,E.; Amorim,A.; Capelli,C.; Arroyo-Pardo,E.; Gusmao,L.; Prata,M.J.; BACKGROUND: One of the most important dietary shifts underwent by human populations began to occur in the Neolithic, during which new modes of subsistence emerged and new nutrients were introduced in diets. This change might have worked as a selective pressure over the metabolic pathways involved in the breakdown of substances extracted from food. Here we applied a candidate gene approach to investigate whether in populations with different modes of subsistence, diet-related genetic adaptations could be identified in the genes AGXT, PLRP2, MTRR, NAT2 and CYP3A5. [Read More]

Forensic ancestry analysis with two capillary electrophoresis ancestry informative marker (AIM) panels: Results of a collaborative EDNAP exercise

Santos,C.; Fondevila,M.; Ballard,D.; Banemann,R.; Bento,A.M.; Borsting,C.; Branicki,W.; Brisighelli,F.; Burrington,M.; Capal,T.; Chaitanya,L.; Daniel,R.; Decroyer,V.; England,R.; Gettings,K.B.; Gross,T.E.; Haas,C.; Harteveld,J.; Hoff-Olsen,P.; Hoffmann,A.; Kayser,M.; Kohler,P.; Linacre,A.; Mayr-Eduardoff,M.; McGovern,C.; Morling,N.; O’Donnell,G.; Parson,W.; Pascali,V.L.; Porto,M.J.; Roseth,A.; Schneider,P.M.; Sijen,T.; Stenzl,V.; Court,D.S.; Templeton,J.E.; Turanska,M.; Vallone,P.M.; Oorschot,R.A.; Zatkalikova,L.; Carracedo,A.; Phillips,C.; E.UROFORGEN-NoEConsortium; There is increasing interest in forensic ancestry tests, which are part of a growing number of DNA analyses that can enhance routine profiling by obtaining additional genetic information about unidentified DNA donors. [Read More]

Full mtGenome reference data: development and characterization of 588 forensic-quality haplotypes representing three U.S. populations

Just,R.S.; Scheible,M.K.; Fast,S.A.; Sturk-Andreaggi,K.; Rock,A.W.; Bush,J.M.; Higginbotham,J.L.; Peck,M.A.; Ring,J.D.; Huber,G.E.; Xavier,C.; Strobl,C.; Lyons,E.A.; Diegoli,T.M.; Bodner,M.; Fendt,L.; Kralj,P.; Nagl,S.; Niederwieser,D.; Zimmermann,B.; Parson,W.; Irwin,J.A.; Though investigations into the use of massively parallel sequencing technologies for the generation of complete mitochondrial genome (mtGenome) profiles from difficult forensic specimens are well underway in multiple laboratories, the high quality population reference data necessary to support full mtGenome typing in the forensic context are lacking. To address this deficiency, we have developed 588 complete mtGenome haplotypes, spanning three U. [Read More]