Zimmermann,B.; Sturk-Andreaggi,K.; Huber,N.; Xavier,C.; Saunier,J.; Tahir,M.; Chouery,E.; Jalkh,N.; Megarbane,A.; Bodner,M.; Coble,M.; Irwin,J.; Parsons,T.; Parson,W.; This study investigated the mitochondrial DNA (mtDNA) control region variation in Middle Eastern populations (610 individuals from Lebanon, Jordan and the Kingdom of Bahrain) for which population data are scarce. FST comparison among populations revealed that there are significant differences in mtDNA distributions between Bahrain and the two other populations, while Lebanon and Jordan showed no significant differences. [Read More]

Hagenbuchner,J.; Oberacher,H.; Arnhard,K.; Kiechl-Kohlendorfer,U.; Ausserlechner,M.J.; Inhibitor of apoptosis proteins (IAP) are cell death regulators that bind caspases and interfere with apoptotic signalling via death receptors or intrinsic cell death pathways. BIRC4/XIAP is the most potent anti-apoptotic IAP-member and it physically interacts with caspases via its BIR2 and its BIR3 domain. These domains are also critical for the interaction with mitochondria-derived SMAC/Diablo and with the IAP protein survivin. Survivin is frequently overexpressed in neuroblastoma due to a gain of 17q and we have demonstrated that survivin confers resistance to chemotherapeutic agents and reprograms metabolism of neuroblastoma cells towards glycolysis. [Read More]

Roth,C.; Parson,W.; Strobl,C.; Lagace,R.; Short,M.; Mitochondrial DNA (mtDNA) sequencing is a valuable forensics tool in determining the source of DNA obtained from degraded, damaged or small biological samples. However, despite the recent advances in Massively Parallel Sequencing (MPS), the analysis of mtDNA has remained challenging: alignments can be misleading and may result in incorrect variant calls, and contamination from nuclear DNA from small samples may obscure true variants. In this article, we discuss an integrated approach to solving these issues in a new mito variant caller that integrates various sources of knowledge about mtDNA, including phylotree, EMPOP and NUMTs statistics, and that avoids many of the pitfalls of standard algorithms. [Read More]

Lutz-Bonengel,S.; Parson,W.;

Proc Natl Acad Sci U S A 2019 116:1821-1822
PubMed: 30674683

Cheung,E.Y.Y.; Phillips,C.; Eduardoff,M.; Lareu,M.V.; McNevin,D.; The use of microhaplotypes (MHs) for ancestry inference has added to an increasing number of ancestry-informative markers (AIMs) for forensic application that includes autosomal single nucleotide polymorphisms (SNPs) and insertions/deletions (indels). This study compares bi-allelic and tri-allelic SNPs as well as MH markers for their ability to differentiate African, European, South Asian, East Asian, and American population groups from the 1000 Genomes Phase 3 database. A range of well-established metrics were applied to rank each marker according to the population differentiation potential they measured. [Read More]