A5028937070- RNA Research and Splicing
- Trace Elements in Health
- Genetic Mapping and Diversity in Plants and Animals
- RNA modifications and cancer
- Plant Molecular Biology Research
- Genetics and Plant Breeding
- Neurological diseases and metabolism
- Genomics and Phylogenetic Studies
- RNA regulation and disease
- Chromosomal and Genetic Variations
- Genetic and phenotypic traits in livestock
- RNA and protein synthesis mechanisms
- Amino Acid Enzymes and Metabolism
- Prenatal Screening and Diagnostics
- Forensic and Genetic Research
- Telomeres, Telomerase, and Senescence
- Protist diversity and phylogeny
- Neuroscience and Neuropharmacology Research
- Genetic diversity and population structure
- Environmental Toxicology and Ecotoxicology
- Microbial Metabolic Engineering and Bioproduction
- Pleistocene-Era Hominins and Archaeology
- Plant-Microbe Interactions and Immunity
- Geology and Paleoclimatology Research
- Metabolomics and Mass Spectrometry Studies
The University of Melbourne
2002-2023
Australian National University
2020-2023
Melbourne Genomics Health Alliance
2020
Austrian Academy of Sciences
2013-2018
Gregor Mendel Institute of Molecular Plant Biology
2011-2018
Vienna Biocenter
2014-2017
University of Veterinary Medicine Vienna
2010-2015
University of Vienna
2010
Abstract The rate at which new mutations arise in the genome is a key factor evolution and adaptation of species. Here we describe spectrum spontaneous for fission yeast Schizosaccharomyces pombe, model organism with many similarities to higher eukaryotes. We undertook an ∼1700-generation mutation accumulation (MA) experiment haploid S. generating 422 single-base substitutions 119 insertion-deletion (indels) across 96 replicates. This equates base-substitution 2.00 × 10−10 per site...
Abstract Recent work has shown that Arabidopsis thaliana contains genetic groups originating from different ice age refugia, with one particular group comprising over 95% of the current worldwide population. In Europe, relicts other can be found in local populations along Mediterranean Sea. Here we provide evidence these ‘relicts’ occupied post-glacial Eurasia first and were later replaced by invading ‘non-relicts’, which expanded through east–west axis Eurasia, leaving traces admixture...
Abstract The Indigenous peoples of Australia have a rich linguistic and cultural history. How this relates to genetic diversity remains largely unknown because their limited engagement with genomic studies. Here we analyse the genomes 159 individuals from four remote communities, including people who speak language (Tiwi) not most widespread family (Pama–Nyungan). This large collection Australian was made possible by careful community consultation. We observe exceptionally strong population...
The density of introns is both an important feature genome architecture and a highly variable trait across eukaryotes. This heterogeneity has posed evolutionary puzzle for the last 30 years. Recent evidence consistent with novel being outcome error-prone repair DNA double-stranded breaks (DSBs) via non-homologous end joining (NHEJ). Here we suggest that deletion pre-existing could occur same pathway. We propose framework in which species-specific differences activity NHEJ homologous...
Defects in the mammalian Menkes and Wilson copper transporting P-type ATPases cause severe homeostasis disease phenotypes humans. Here, we find that DmATP7, sole Drosophila orthologue of genes, is vital for uptake vivo. Analysis a DmATP7 loss-of-function allele shows essential embryogenesis, early larval development, adult pigmentation probably required from diet. These are analogous to those caused by mutation mouse human suggesting like Menkes, plays at least two roles cellular level:...
Intron number varies considerably among genomes, but despite their fundamental importance, the mutational mechanisms and evolutionary processes underlying expansion of intron remain unknown. Here we show that Drosophila, in contrast to most eukaryotic lineages, is still undergoing a dramatic rate gain. These novel introns carry significantly weaker splice sites may impede identification by spliceosome. Novel are more likely encode premature termination codon (PTC), indicating...
Experimental high-throughput analysis of molecular networks is a central approach to characterize the adaptation plant metabolism environment. However, recent studies have demonstrated that it hardly possible predict in situ metabolic phenotypes from experiments under controlled conditions, such as growth chambers or greenhouses. This particularly due high variance samples induced by environmental fluctuations. An functional metabolome interpretation field would be desirable order able...
SUMMARY Divalent metal ion transporter 1 (DMT1; also known as SLC11A2) can transport several metals including Fe and Cu in mammalian systems. We set out to determine whether Malvolio (Mvl), the Drosophila melanogasterorthologue of DMT1, Cu. Overexpression Mvlcaused accumulation S2 cultured cells conversely dsRNAi knockdown endogenous Mvl reduced cellular levels. Cell viability under limiting conditions was following knockdown. A homozygous viable loss-of-function mutant(Mvl97f) sensitive...
Abstract Telomeres represent the repetitive sequences that cap chromosome ends and are essential for their protection. Telomere length is known to be highly heritable derived from a homeostatic balance between telomeric lengthening shortening activities. Specific loci form genetic framework underlying telomere homeostasis, however, not well understood. To investigate extent of natural variation in Arabidopsis thaliana, we examined 229 worldwide accessions by terminal restriction fragment...
Copper is essential for aerobic life, but many aspects of its cellular uptake and distribution remain to be fully elucidated. A genome-wide screen copper homeostasis genes in Drosophila melanogaster identified the SNARE gene Syntaxin 5 (Syx5) as playing an important role regulation; flies heterozygous a null mutation Syx5 display increased tolerance high dietary copper. The phenotype shown here due decrease accumulation, mechanism also observed both human cell lines. Studies adult tissue...
Genome-wide association studies (GWAS) are a powerful tool for establishing correlation between phenotype and genotype. For the self-fertilising plant Arabidopsis thaliana , more than 1000 inbred lines have been ‘fully sequenced’, removing cost of genotyping set that can be phenotyped over over. Does having full sequence make difference? How important is sample size line selection? The answers from it highly dependent on trait architecture population structure. This offers an insight into...