delaPuente,M.; Phillips,C.; Xavier,C.; Amigo,J.; Carracedo,A.; Parson,W.; Lareu,M.V.; A large number of new microhaplotype loci were identified in the human genome by applying a directed search with selection criteria emphasizing short haplotype length (<120 nucleotides) and maximum levels of polymorphism in the composite SNPs. From these searches, 107 autosomal microhaplotypes and 11 X chromosome microhaplotypes were selected, with well-spaced autosomal positions to ensure their independence in relationship tests. The 118 microhaplotypes were assembled into a single multiplex assay for the analysis of forensic DNA with massively parallel sequencing (MPS). [Read More]

Neuwirt,H.; Bouchal,J.; Kharaishvili,G.; Ploner,C.; Johrer,K.; Pitterl,F.; Weber,A.; Klocker,H.; Eder,I.E.; BACKGROUND: Androgen receptor targeted therapies have emerged as an effective tool to manage advanced prostate cancer (PCa). Nevertheless, frequent occurrence of therapy resistance represents a major challenge in the clinical management of patients, also because the molecular mechanisms behind therapy resistance are not yet fully understood. In the present study, we therefore aimed to identify novel targets to intervene with therapy resistance using gene expression analysis of PCa co-culture spheroids where PCa cells are grown in the presence of cancer-associated fibroblasts (CAFs) and which have been previously shown to be a reliable model for antiandrogen resistance. [Read More]

Wöss,C.; Unterberger,S.H.; Degenhart,G.; Akolkar,A.; Traxl,R.; Kuhn,V.; Schirmer,M.; Pallua,A.K.; Tappert,R.; Pallua,J.D.; Information on the adaptation of bone structures during evolution is rare since histological data are limited. Micro- and nano-computed tomography of a fossilized vertebra from Champsosaurus sp., which has an estimated age of 70-73 million years, revealed lower porosity and higher bone density compared to modern Crocodylidae vertebrae. Mid-infrared reflectance and energy dispersive X-ray mapping excluded a petrification process, and demonstrated a typical carbonate apatite distribution, confirming histology in light- and electron microscopy of the preserved vertebra. [Read More]

Heidegger,A.; Xavier,C.; Niederstätter,H.; delaPuente,M.; Pospiech,E.; Pisarek,A.; Kayser,M.; Branicki,W.; Parson,W.; VISAGEConsortium; The VISAGE (VISible Attributes through GEnomics) consortium aims to develop, optimize and validate prototype tools to broaden the use of DNA intelligence methods in forensic routine laboratories. This includes age estimation based on the quantification of DNA methylation at specific CpG sites. Here, we present the VISAGE basic prototype tool for age estimation targeting 32 CpGs from five genes ELOVL2, MIR29B2CHG (herein, MIR29B2C), FHL2, TRIM59 and KLF14. [Read More]

Xavier,C.; delaPuente,M.; Mosquera-Miguel,A.; Freire-Aradas,A.; Kalamara,V.; Vidaki,A.; E.GrossT; Revoir,A.; Pospiech,E.; Kartasinska,E.; Spolnicka,M.; Branicki,W.; E.AmesC; M.SchneiderP; Hohoff,C.; Kayser,M.; Phillips,C.; Parson,W.; VISAGEConsortium; Forensic DNA phenotyping is gaining interest as the number of applications increases within the forensic genetics community. The possibility of providing investigative leads in addition to conventional DNA profiling for human identification provides new insights into otherwise “cold” police investigations. The ability of reporting on the bio-geographical ancestry (BGA), appearance characteristics and age based on DNA obtained from a crime scene sample of an unknown donor makes the exploration of such markers and the development of new methods meaningful for criminal investigations. [Read More]