ABSTRACT: Application of whole genome sequencing and pan-family multi-locus sequence analysis to characterise relationships within the family Brucellaceae
Project description:The proteome of the SS13 isolate assigned to the Chromatiaceae family was assessed by shotgun proteomics using a pan-proteomics database for the genus Rheinheimera and a whole genome sequencing -derived database.
Project description:A superfamily of invariant surface glycoproteins (ISGs) populates the African trypanosome surface, one of which, ISG75, is implicated in uptake of the century-old drug suramin. We disrupted the ISG75 gene locus encoding an array of six ISG75 paralogs on chromosome V by CRISPR/Cas9 knockout. Here we characterise this knockout strain by quantitative whole cell proteomics. Additionally, we analyse the way ISG75 knockout cells respond to suramin on the proteome level.
Project description:Multi-locus imprinting Disturbances (MLID) are methylation defects affecting germline-derived Differentially Methylated Regions (gDMRs) and they have been associated with maternal-effect variants causing imprinting disorders in the offspring. In a family with multiple pregnancy losses, a child with Beckwith-Wiedemann syndrome (BWS) and a further child without any features of imprinting disorders, novel compound heterozygous variants in the NLRP5 gene of the mother were found. Locus-specific and whole-genome methylation analysis by using Infinium MethylationEPIC BeadChip (WG-317-1001, Illumina) revealed MLID with different methylation profiles in both the siblings. The proband and the normal sibling were found to cluster with other MLID cases as shown by principal component analysis and unsupervised hierarchical clustering and remain distinct from controls. However, we were unable to cluster MLID cases associated with specific clinical phenotypes. The identification of two novel maternal-effect variants of NLRP5 associated with poly-abortivity and MLID add further evidence to the role of NLRP5 in the maintenance of genomic imprinting in early embryos. Furthermore, our results demonstrate that within these pedigrees MLID can also be present in the progeny with healthy phenotype, indicating that some sort of compensation occurs between altered imprinted loci in these individuals.
