Novel microsatellite markers for the spruce bark beetle (Ips typographus L.) are identified and characterized using next generation sequencing technology. 18 polymorphic loci were obtained by screening 10,684 reads and tested on 35 bark beetle samples from different locations in Bavaria, Germany. Allelic richness ranged from two to 38 alleles, observed heterozygosity from 0.03 to 0.66 and expected heterozygosity from 0.08 to 0.97. Four loci showed significant deviation from the Hardy-Weinberg equilibrium and no linkage between loci was detected. The 18 loci, along with another six loci previously described, provide effective analytical tools for analyzing the fine-scale genetic structure of bark beetle populations. The result of this study demonstrates that next generation sequencing technology is a valuable method for isolating microsatellites of a coleopteran species. and Bernhard C. STOECKLE, Ralph KUEHN.
The aim of the present study was to introduce methods for exome sequencing of two ATP-binding cassette (ABC) transporters ABCC8 and ABCD2 recently suggested to play a putative role in breast cancer progression and prognosis of patients. We performed next generation sequencing targeted at analysis of all exons in ABCC8 and ABCD2 genes and surrounding noncoding sequences in blood DNA samples from 24 patients with breast cancer. The revealed alterations were characterized by in silico tools. We then compared the most frequent functionally relevant polymorphism rs757110 in ABCC8 with clinical data of patients. In total, the study identified 113 genetic alterations (>70 % novel ones) in both genes. Of these alterations, 83 were noncoding, 13 synonymous, 10 frameshifts and 7 were missense alterations. Four in silico programs predicted pathogenicity of two polymorphisms and four newly identified alterations. Rs757110 polymorphism in ABCC8 did not significantly associate with clinical data of the patients. In conclusion, exome sequencing identified several functionally relevant alterations in ABCC8 and ABCD2 genes that may further be used for a larger follow-up study aiming to assess their clinical significance., P. Soucek, V. Hlavac, K. Elsnerova, R. Vaclavikova, R. Kozevnikovova, K. Raus., and Obsahuje bibliografii