A5010423782- RNA Research and Splicing
- Developmental Biology and Gene Regulation
- Animal Genetics and Reproduction
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Genetics, Aging, and Longevity in Model Organisms
- Reproductive Biology and Fertility
- Pluripotent Stem Cells Research
- Sperm and Testicular Function
- Invertebrate Immune Response Mechanisms
- Nuclear Structure and Function
- Renal and related cancers
- Genomics and Chromatin Dynamics
- Epigenetics and DNA Methylation
- Neurobiology and Insect Physiology Research
- Cancer-related gene regulation
- Ubiquitin and proteasome pathways
- Microtubule and mitosis dynamics
- Cancer Cells and Metastasis
- RNA modifications and cancer
- Hippo pathway signaling and YAP/TAZ
- CRISPR and Genetic Engineering
- Insect Resistance and Genetics
- Chromosomal and Genetic Variations
- Testicular diseases and treatments
- Plant Reproductive Biology
The University of Melbourne
2015-2025
The University of Sydney
2023
Stem Cells Australia
2022
Florey Institute of Neuroscience and Mental Health
2021
ARC Centre of Excellence in Advanced Molecular Imaging
2004-2014
University of Newcastle Australia
2006-2009
Australian Research Council
2005-2008
Monash University
2006
Stanford University
1994-2000
Peter MacCallum Cancer Centre
1997-2000
Telomerase is a multicomponent reverse transcriptase enzyme that adds DNA repeats to the ends of chromosomes using its RNA component as template for synthesis. activity detected in germline well majority tumors and immortal cell lines, at low levels several types normal cells. We have cloned human gene homologous protein from Saccharomyces cerevisiae Euplotes aediculatus has motifs thought be catalytic subunit telomerase those species. This present genome single copy sequence with dominant...
ABSTRACT Stable intercellular bridges called ring canals form following incomplete cytokinesis, and interconnect mitotically or meiotically related germ cells. We show that in Drosophila melanogaster males are surprisingly different from those previously described females. Mature canal walls lack actin appear to derive directly structural proteins associated with the contractile ring. Ring assembly males, as females, initiates during cytokinesis appearance of a phosphotyrosine epitopes at...
ABSTRACT The morphogenesis of spermatids generally takes place within a syncytium, in which all spermatid nuclei descended from primary spermatocyte remain connected via an extensive network cytoplasmic bridges. A late step sperm maturation therefore requires the physical resolution or cyst, into individual cells, process sometimes referred to as individualization. Despite identification specialized machinery involved individualization Drosophila (Tokuyasu, K. T., Peacock, W. J. and Hardy,...
ABSTRACT The endgame of cytokinesis can follow one two pathways depending on developmental context: resolution into separate cells or formation a stable intercellular bridge. Here we show that the four wheel drive (fwd) gene Drosophila melanogaster is required for bridge during in male meiosis. In fwd mutant males, contractile rings form and constrict dividing spermatocytes, but cleavage furrows are unstable daughter fuse together, producing multinucleate spermatids. shown to encode...
A key goal of regenerative medicine is an understanding the genetic factors that define properties stem cells. However, cell research in mammalian tissue has been hampered by a paucity cell-specific markers. Although increasing evidence suggests members Musashi (Msi) family RNA-binding proteins play important functions progenitor cells, it remains unclear whether there cell-autonomous requirement for Msi because inability to distinguish cells from early-lineage tissues. Here, using...
Abstract Premature ovarian insufficiency (POI) is a common cause of infertility in women, characterised by amenorrhea and elevated FSH under the age 40 years. In some cases, POI syndromic association with other features such as sensorineural hearing loss Perrault syndrome. heterogeneous disease over 80 causative genes known so far; however, these explain only minority cases. Using whole-exome sequencing (WES), we identified MRPL50 homozygous missense variant (c.335T > A; p.Val112Asp)...
Membrane contact sites between organelles are critical for the transfer of biomolecules. Lipid droplets store fatty acids and form contacts with mitochondria, which regulate acid oxidation adenosine triphosphate production. Protein compartmentalization at lipid droplet-mitochondria their effects on biological processes poorly described. Using proximity-dependent biotinylation methods, we identify 71 proteins sites, including a multimeric complex containing extended synaptotagmin (ESYT) 1,...
Stem cells reside within specialized microenvironments, or niches, that control many aspects of stem cell behavior. Somatic hub in the Drosophila testis regulate behavior cyst (CySCs) and germline (GSCs) are a primary component niche. The shutoff (shof) mutation, characterized by premature loss GSCs CySCs, was mapped to locus encoding evolutionarily conserved transcription factor Escargot (Esg). Hub depleted Esg acquire CySC characteristics differentiate as cells, resulting complete...
Abstract SOX (SRY-related HMG-box) transcription factors perform critical functions in development and cell differentiation. These roles depend on precise nuclear trafficking, with mutations the targeting regions causing developmental diseases a range of cancers. protein localization is proposed to be mediated by two signals (NLSs) positioned within extremities DNA-binding HMG-box domain and, although either cause disease, mechanistic basis has remained unclear. Unexpectedly, we find here...
ABSTRACT Mutations at the pebble locus of Drosophila melanogaster result in embryonic lethality. Examination homo-zygous mutant embryos end embryogenesis revealed presence fewer and larger cells which contained enlarged nuclei. Characterization cell cycles using DAPI, propidium iodide, anti-tubulin anti-spectrin staining showed that first thirteen rapid syncytial nuclear divisions proceeded normally embryos. Following cellular-ization, postblastoderm occurred (mitoses 14, 15 16), but...
Hedgehog (Hh) signalling is known to regulate many aspects of normal development as well being upregulated in various cancers. Signalling mediated by the Gli family zinc finger transcription factors. Based on observations that deletion one three Hh genes, Dhh, leads male infertility, we hypothesized regulated expression components would be a feature adult spermatogenesis. We used situ hybridization characterise gene juvenile and mouse testes. In first wave spermatogenesis, mRNAs encoding all...
Spermatogenesis is a complex developmental process whereby diploid spermatogenic stem cells become haploid and undergo series of morphological changes to produce physically mature spermatozoa. Crucial this are number RNA-binding proteins, responsible for the posttranscriptional control essential mRNAs particularly pertinent two periods inactive transcription that occur in spermatogenesis. One such group proteins Musashi family, specifically Musashi-1 (MSI1) Musashi-2 (MSI2), which act as key...
Abstract Squamous cell carcinoma antigen recognized by T cells 3 ( SART3 ) is an RNA-binding protein with numerous biological functions including recycling small nuclear RNAs to the spliceosome. Here, we identify recessive variants in nine individuals presenting intellectual disability, global developmental delay and a subset of brain anomalies, together gonadal dysgenesis 46,XY individuals. Knockdown Drosophila orthologue reveals conserved role testicular neuronal development. Human induced...
Snail genes are transcriptional repressors well known to play important roles in epithelial mesenchymal transitions during both embryogenesis and cancer metastasis. Although they generally regarded as markers of cells, have also recently been implicated regulating stem cell populations Drosophila vertebrates. In this study we investigate Snai1, a member the mouse family, intestinal niche examine relationship between canonical Wnt signaling, key regulatory pathway expression cellular...
Heat shock proteins play essential roles as molecular chaperones, enacting protein folding and preventing aggregation. In a previous study, homozygous non-synonymous genetic variant that was predicted to be damaging detected in an infertile man the heat gene HSPA4L. Here, we used RNA interference Drosophila melanogaster explore role of A member 4 family (HSPA4) male fertility. Expression fly orthologue mammalian HSPA4 HSPA4L genes, Hsc70Cb, reduced germline using two RNAi lines driven by...
Abstract Regeneration of the Drosophila midgut epithelium depends upon differential expression transcription factors in intestinal stem cells and their progeny. The grainy head locus produces multiple splice forms that result production two classes factor, designated Grh.O Grh.N. is associated with epithelial tissue has roles epidermal development regeneration but had not been examined for a function epithelium. Here we show null mutant clones limited effect on cell (ISC) maintenance...