Towards broadening Forensic DNA Phenotyping beyond pigmentation: Improving the prediction of head hair shape from DNA

Pospiech,E.; Chen,Y.; Kukla-Bartoszek,M.; Breslin,K.; Aliferi,A.; Andersen,J.D.; Ballard,D.; Chaitanya,L.; Freire-Aradas,A.; vanderGaag,K.J.; Giron-Santamaria,L.; Gross,T.E.; Gysi,M.; Huber,G.; Mosquera-Miguel,A.; Muralidharan,C.; Skowron,M.; Carracedo,A.; Haas,C.; Morling,N.; Parson,W.; Phillips,C.; Schneider,P.M.; Sijen,T.; Syndercombe-Court,D.; Vennemann,M.; Wu,S.; Xu,S.; Jin,L.; Wang,S.; Zhu,G.; Martin,N.G.; Medland,S.E.; Branicki,W.; Walsh,S.; Liu,F.; Kayser,M.; E.UROFORGEN-NoEConsortium; Human head hair shape, commonly classified as straight, wavy, curly or frizzy, is an attractive target for Forensic DNA Phenotyping and other applications of human appearance prediction from DNA such as in paleogenetics. [Read More]

Truncated isoform Vav3.1 is highly expressed in ovarian cancer stem cells and clinically relevant in predicting prognosis and platinum-response

Reimer,D.; Boesch,M.; Wolf,D.; Marth,C.; Sopper,S.; Hatina,J.; Altevogt,P.; Parson,W.; Hackl,H.; Zeimet,A.G.; Vav3 is a key modulator of GTP-hydrolases of the Rho/Rac family, which are crucially involved in cell proliferation. Vav3 is alternatively spliced in full-length Vav3-alpha and N-terminal truncated Vav3.1 lacking its self-regulatory domains. The aim of our study was to estimate the clinical impact of Vav3 and all other Vav family members in ovarian cancer. Purification of a stem-cell like side-population (SP) from ovarian cancer cell lines was performed by flow cytometry/FACS. [Read More]

A collaborative EDNAP exercise on SNaPshot-based mtDNA control region typing

Weiler,N.E.; Baca,K.; Ballard,D.; Balsa,F.; Bogus,M.; Borsting,C.; Brisighelli,F.; Cervenakova,J.; Chaitanya,L.; Coble,M.; Decroyer,V.; Desmyter,S.; vanderGaag,K.J.; Gettings,K.; Haas,C.; Heinrich,J.; JoaoPorto,M.; Kal,A.J.; Kayser,M.; Kudelova,A.; Morling,N.; Mosquera-Miguel,A.; Noel,F.; Parson,W.; Pereira,V.; Phillips,C.; Schneider,P.M.; SyndercombeCourt,D.; Turanska,M.; Vidaki,A.; Wolinski,P.; Zatkalikova,L.; Sijen,T.; A collaborative European DNA Profiling (EDNAP) Group exercise was undertaken to assess the performance of an earlier described SNaPshot-based screening assay (denoted mini-mtSNaPshot) (Weiler et al., 2016) [1] that targets 18 single nucleotide polymorphism (SNP) positions in the mitochondrial (mt) DNA control region and allows for discrimination of major European mtDNA haplogroups. [Read More]

Analytical Validation of a Portable Mass Spectrometer Featuring Interchangeable, Ambient Ionization Sources for High Throughput Forensic Evidence Screening

Lawton,Z.E.; Traub,A.; Fatigante,W.L.; Mancias,J.; O’Leary,A.E.; Hall,S.E.; Wieland,J.R.; Oberacher,H.; Gizzi,M.C.; Mulligan,C.C.; Forensic evidentiary backlogs are indicative of the growing need for cost-effective, high-throughput instrumental methods. One such emerging technology that shows high promise in meeting this demand while also allowing on-site forensic investigation is portable mass spectrometric (MS) instrumentation, particularly that which enables the coupling to ambient ionization techniques. While the benefits of rapid, on-site screening of contraband can be anticipated, the inherent legal implications of field-collected data necessitates that the analytical performance of technology employed be commensurate with accepted techniques. [Read More]

Applying LC with Low-Resolution MS/MS and Subsequent Library Search for Reliable Compound Identification in Systematic Toxicological Analysis

Pitterl,F.; Kob,S.; Pitterle,J.; Steger,J.; Oberacher,H.; Systematic toxicological analysis (STA) is an important step in medicolegal investigations of death, poisoning, and drug use. The primary goal is the detection and confirmation of potentially toxic compounds in evidence. This article describes a workflow using nontargeted liquid chromatography-tandem mass spectrometry (LC-MS/ MS) for reliable compound identification. Tandem mass spectrometry was performed on a low-resolution quadrupole-quadrupole-linear ion trap instrument. Acquired spectra were submitted to an automated library search, and positive matches were verified by expert reviewing. [Read More]