High-quality and high-throughput massively parallel sequencing of the human mitochondrial genome using the Illumina MiSeq

King,J.L.; LaRue,B.L.; Novroski,N.M.; Stoljarova,M.; Seo,S.B.; Zeng,X.; Warshauer,D.H.; Davis,C.P.; Parson,W.; Sajantila,A.; Budowle,B.; Mitochondrial DNA typing in forensic genetics has been performed traditionally using Sanger-type sequencing. Consequently sequencing of a relatively-large target such as the mitochondrial genome (mtGenome) is laborious and time consuming. Thus, sequencing typically focuses on the control region due to its high concentration of variation. Massively parallel sequencing (MPS) has become more accessible in recent years allowing for high-throughput processing of large target areas. [Read More]

Identification of the remains of King Richard III

King,T.E.; Fortes,G.G.; Balaresque,P.; Thomas,M.G.; Balding,D.; Delser,P.M.; Neumann,R.; Parson,W.; Knapp,M.; Walsh,S.; Tonasso,L.; Holt,J.; Kayser,M.; Appleby,J.; Forster,P.; Ekserdjian,D.; Hofreiter,M.; Schurer,K.; In 2012, a skeleton was excavated at the presumed site of the Grey Friars friary in Leicester, the last-known resting place of King Richard III. Archaeological, osteological and radiocarbon dating data were consistent with these being his remains. Here we report DNA analyses of both the skeletal remains and living relatives of Richard III. [Read More]

Improved visibility of character conflicts in quasi-median networks with the EMPOP NETWORK software

Zimmermann,B.; Röck,A.W.; Dür,A.; Parson,W.; AIM: To provide a valuable tool for graphical representation of mitochondrial DNA (mtDNA) data that enables visual emphasis on complex substructures within the network to highlight possible ambiguities and errors. METHOD: We applied the new NETWORK graphical user interface, available via EMPOP (European DNA Profiling Group Mitochondrial DNA Population Database; www.empop.org) by means of two mtDNA data sets that were submitted for quality control. RESULTS: The quasi-median network torsi of the two data sets resulted in complex reticulations, suggesting ambiguous data. [Read More]

Influences of COMT and 5-HTTLPR polymorphisms on cognitive flexibility in healthy women: inhibition of prepotent responses and memory updating

Weiss,E.M.; Schulter,G.; Fink,A.; Reiser,E.M.; Mittenecker,E.; Niederstätter,H.; Nagl,S.; Parson,W.; Papousek,I.; Understanding genetic factors that affect monoamine neurotransmitters flux in prefrontal cortex may help to further specify the complex neurobiological processes that underlie cognitive function and dysfunction in health and illness. The current study examined the associations between the polymorphisms of dopaminergic (COMT Met158Val) and serotoninergic (5-HTTLPR) genes and the sequential pattern of responses in a motor random generation task providing well-established indexes for executive functioning in a large sample of 255 healthy women. [Read More]

Mitochondrial DNA control region analysis of three ethnic groups in the Republic of Macedonia

Jankova-Ajanovska,R.; Zimmermann,B.; Huber,G.; Röck,A.W.; Bodner,M.; Jakovski,Z.; Janeska,B.; Duma,A.; Parson,W.; A total of 444 individuals representing three ethnic groups (Albanians, Turks and Romanies) in the Republic of Macedonia were sequenced in the mitochondrial control region. The mtDNA haplogroup composition differed between the three groups. Our results showed relatively high frequencies of haplogroup H12 in Albanians (8.8%) and less in Turks (3.3%), while haplogroups M5a1 and H7a1a were dominant in Romanies (13.7% and 10. [Read More]