A5008488452- Genomics and Phylogenetic Studies
- Chromosomal and Genetic Variations
- RNA modifications and cancer
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Ichthyology and Marine Biology
- Fish Biology and Ecology Studies
- MicroRNA in disease regulation
- Turtle Biology and Conservation
- RNA Research and Splicing
- Epigenetics and DNA Methylation
- Species Distribution and Climate Change
- Mitochondrial Function and Pathology
- Genetic and phenotypic traits in livestock
- Genomics and Rare Diseases
- CRISPR and Genetic Engineering
- Molecular Biology Techniques and Applications
- Cancer-related molecular mechanisms research
- Metabolomics and Mass Spectrometry Studies
- Retinal Development and Disorders
- Genetic diversity and population structure
- Insect and Arachnid Ecology and Behavior
- Genomics and Chromatin Dynamics
- Cephalopods and Marine Biology
- interferon and immune responses
- Respiratory viral infections research
Australian National University
2016-2025
Genomics (United Kingdom)
2023
Africa Centres for Disease Control and Prevention
2022
The University of Sydney
2017
Human Genome Sciences (United States)
2016
EMBL Australia
2016
QIMR Berghofer Medical Research Institute
2015
ACT Government
2015
Victor Chang Cardiac Research Institute
2012
UNSW Sydney
2012
The modified base 5-methylcytosine (m 5 C) is well studied in DNA, but investigations of its prevalence cellular RNA have been largely confined to tRNA and rRNA. In animals, the two m C methyltransferases NSUN2 TRDMT1 are known modify specific tRNAs roles control cell growth differentiation. To map cytosine sites across a human transcriptome, we coupled bisulfite conversion with next-generation sequencing. We confirmed 21 28 previously identified 234 novel candidate sites, mostly anticipated...
The koala, the only extant species of marsupial family Phascolarctidae, is classified as 'vulnerable' due to habitat loss and widespread disease. We sequenced koala genome, producing a complete contiguous reference including centromeres. reveal that koala's ability detoxify eucalypt foliage may be expansions within cytochrome P450 gene family, its smell, taste moderate ingestion plant secondary metabolites in vomeronasal receptors. characterized novel lactation proteins protect young pouch...
Significance Genomes of birds and reptiles, but not mammals, consist a few large chromosomes many tiny microchromosomes. Microchromosomes are gene-rich highly conserved among reptiles share homology with one or more the an invertebrate that diverged from vertebrate lineage 684 Ma. interact strongly crowd together at center cells, suggesting functional coherence. Many microchromosomes have been lost independently in turtles, snakes, lizards as they fused each other larger chromosomes. In...
Alzheimer's disease (AD) age of onset (ADAOO) varies greatly between individuals, with unique causal mutations suggesting the role modifying genetic and environmental interactions. We analyzed ~50 000 common rare functional genomic variants from 71 individuals 'Paisa' pedigree, world's largest pedigree segregating a severe form early-onset AD, who were affected carriers fully penetrant E280A mutation in presenilin-1 (PSEN1) gene. Affected ages at extremes ADAOO distribution (30s–70s range),...
BackgroundThe lizards of the family Agamidae are one most prominent elements Australian reptile fauna. Here, we present a genomic resource built on basis wild-caught male ZZ central bearded dragon Pogona vitticeps.
The field of genomics has benefited greatly from its “openness” approach to data sharing. However, with the increasing volume sequence information being created and stored growing number international efforts, equity openness is under question. United Nations Convention Biodiversity aims develop adopt a standard policy on access benefit-sharing for across signatory parties. This standardization will have profound implications research, requiring new definition open redefinition not...
microRNAs (miRNAs) are critical to heart development and disease. Emerging research indicates that regulated precursor processing can give rise an unexpected diversity of miRNA variants. We subjected small RNA from murine HL-1 cardiomyocyte cells next generation sequencing investigate the relevance such cardiac biology. ∼40 million tags were mapped known hairpin sequences as deposited in miRBase version 16, calling 403 generic miRNAs appreciably expressed. Hairpin arm bias broadly agreed...
Abstract Roquin is an RNA-binding protein that prevents autoimmunity and inflammation via repression of bound target mRNAs such as inducible costimulator ( Icos ). When absent or mutated (Roquin san ), overexpressed in T cells. Here we show enhances Dicer-mediated processing pre-miR-146a. also directly binds Argonaute2, a central component the RNA-induced silencing complex, miR-146a, microRNA targets mRNA. In absence functional Roquin, miR-146a accumulates Its accumulation not due to...
Abstract Indigenous Australians harbour rich and unique genomic diversity. However, Aboriginal Torres Strait Islander ancestries are historically under-represented in genomics research almost completely missing from reference datasets 1–3 . Addressing this representation gap is critical, both to advance our understanding of global human diversity as a prerequisite for ensuring equitable outcomes medicine. Here we apply population-scale whole-genome long-read sequencing 4 profile structural...
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...
Cisplatin is an effective anticancer drug; however, cisplatin use often leads to nephrotoxicity, which limits its clinical effectiveness. In this study, we determined the effect of dichloroacetate, a novel agent, in mouse model cisplatin-induced AKI. Pretreatment with dichloroacetate significantly attenuated increase BUN and serum creatinine levels, renal tubular apoptosis, oxidative stress. Additionally, pretreatment accelerated regeneration after damage. Whole transcriptome sequencing...
Squamates (lizards and snakes) are a speciose lineage of reptiles displaying considerable karyotypic diversity, particularly among lizards. Understanding the evolution this diversity requires comparison genome organisation between species. Although genomes several squamate species have now been sequenced, only green anole lizard has any sequence anchored to chromosomes. There is limited gene mapping data available for five other squamates. This makes it difficult reconstruct events that led...
We applied high-throughput sequencing to eye tissue from several species of basal vertebrates (a hagfish, two lamprey, and five gnathostome fish), we analyzed the mRNA sequences for proteins underlying activation phototransduction cascade.The molecular phylogenies that constructed these are consistent with 2R WGD model rounds whole genome duplication.Our analysis suggests agnathans retain an additional representative (that has been lost in gnathostomes) each gene families studied; evidence...
Genetic factors are strongly implicated in the susceptibility to develop externalizing syndromes such as attention-deficit/hyperactivity disorder (ADHD), oppositional defiant disorder, conduct and substance use (SUD). Variants ADGRL3 (LPHN3) gene predispose ADHD predict severity, disruptive behaviors comorbidity, long-term outcome, response treatment. In this study, we investigated whether variants within associated with SUD, a that is frequently co-morbid ADHD. Using family-based,...
Heteromorphic sex chromosomes (XY or ZW) present problems of gene dosage imbalance between sexes and with autosomes. A need for compensation has long been thought to be critical in vertebrates. However, this was questioned by findings unequal mRNA abundance measurements monotreme mammals birds. Here, we demonstrate unbalanced levels X genes platypus males females a correlation differential loading histone modifications. We also observed transcripts Z chicken. Surprisingly, however, found...
Multiple autoimmune syndrome (MAS), an extreme phenotype of disorders, is a very well suited trait to tackle genomic variants these conditions. Whole exome sequencing (WES) widely used strategy for detection protein coding and splicing associated with inherited diseases. The DNA eight patients affected by MAS [all whom presenting Sjögren's (SS)], four SS alone 38 unaffected individuals, were subject WES. Filters identify novel rare functional (pathogenic–deleterious) homozygous and/or...
Hibernation is a physiological state exploited by many animals exposed to prolonged adverse environmental conditions associated with winter. Large changes in metabolism and cellular function occur, stress response pathways modulated tolerate challenges that might otherwise be lethal. Many studies have sought elucidate the molecular mechanisms of mammalian hibernation, but detailed analyses are lacking reptiles. Here we examine gene expression Australian central bearded dragon (Pogona...
Abstract The diversity of color vision systems found in extant vertebrates suggests that different evolutionary selection pressures have driven specializations photoreceptor complement and visual pigment spectral tuning appropriate for an animal’s behavior, habitat, life history. Aquatic particular show high variability chromatic become important models understanding the role prey detection, predator avoidance, social interactions. In this study, we examined capacity elasmobranch fishes, a...