Extending biosecurity preparedness and surveillance strategies and developing a chemical supply framework for pest incursions (2013)

The Australian grains industry remains free of many pests that cause significant crop losses overseas. While we have many biosecurity systems in place, the large volume of trade and people movement, as well as the ability for pests to enter Australia via natural pathways, means there is always a potential for new pests to establish in crops. Lack of contingency planning can lead to unnecessary loss of property, inappropriate quarantine and loss of valuable time. One of the key tools in industry preparedness of incursions of exotic pests is contingency planning. This project is based on outputs and activities from three separate modules that have a focus on reducing the risk of new exotic pests becoming established. The end-users and beneficiaries of this work will be growers, the grains industry and all parts of the grain supply chain

Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features

Contains fulltext : 182555.pdf (publisher's version ) (Closed access)Bromodomain PHD finger transcription factor (BPTF) is the largest subunit of nucleosome remodeling factor (NURF), a member of the ISWI chromatin-remodeling complex. However, the clinical consequences of disruption of this complex remain largely uncharacterized. BPTF is required for anterior-posterior axis formation of the mouse embryo and was shown to promote posterior neuroectodermal fate by enhancing Smad2-activated wnt8 expression in zebrafish. Here, we report eight loss-of-function and two missense variants (eight de novo and two of unknown origin) in BPTF on 17q24.2. The BPTF variants were found in unrelated individuals aged between 2.1 and 13 years, who manifest variable degrees of developmental delay/intellectual disability (10/10), speech delay (10/10), postnatal microcephaly (7/9), and dysmorphic features (9/10). Using CRISPR-Cas9 genome editing of bptf in zebrafish to induce a loss of gene function, we observed a significant reduction in head size of F0 mutants compared to control larvae. Terminal deoxynucleotidyl transferase dUTP nick end labeling (TUNEL) and phospho-histone H3 (PH3) staining to assess apoptosis and cell proliferation, respectively, showed a significant increase in cell death in F0 mutants compared to controls. Additionally, we observed a substantial increase of the ceratohyal angle of the craniofacial skeleton in bptf F0 mutants, indicating abnormal craniofacial patterning. Taken together, our data demonstrate the pathogenic role of BPTF haploinsufficiency in syndromic neurodevelopmental anomalies and extend the clinical spectrum of human disorders caused by ablation of chromatin remodeling complexes