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Start Over Author "Ruben J. Cauchi" Journal bmc research notes
2 results on '"Ruben J. Cauchi"'

1. Genetic screen identifies a requirement for SMN in mRNA localisation within the Drosophila oocyte

Author

Beppe Aquilina and Ruben J. Cauchi

Subjects
Survival motor neuron, SMN, Genetic screen, Spinal muscular atrophy, mRNA localisation, Gurken, Medicine, Biology (General), QH301-705.5, Science (General), Q1-390
Abstract

Abstract Objective Spinal muscular atrophy (SMA) results from insufficient levels of the survival motor neuron (SMN) protein. Drosophila is conducive to large-scale genetic-modifier screens which can reveal novel pathways underpinning the disease mechanism. We tested the ability of a large collection of genomic deletions to enhance SMN-dependent lethality. To test our design, we asked whether our study can identify loci containing genes identified in previous genetic screens. Our objective was to find a common link between genes flagged in independent screens, which would allow us to expose novel functions for SMN in vivo. Results Out of 128 chromosome deficiency lines, 12 (9.4%) were found to consistently depress adult viability when crossed to SMN loss-of-function heterozygotes. In their majority, the enhancing deletions harboured genes that were previously identified as genetic modifiers, hence, validating the design of the screen. Importantly, gene overlap allowed us to flag genes with a role in post-transcriptional regulation of mRNAs that are crucial for determining the axes of the oocyte and future embryo. We find that SMN is also required for the correct localisation of gurken and oskar mRNAs in oocytes. These findings extend the role of SMN in oogenesis by identifying a key requirement for mRNA trafficking.

Published
2018
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2. Conserved requirement for DEAD-box RNA helicase Gemin3 in Drosophila oogenesis

Author

Ruben J. Cauchi

Subjects
Male, DEAD box, Germline, Survival of motor neurons, Short Report, lcsh:Medicine, Coiled Bodies, Ovaries -- Physiology, Biology, General Biochemistry, Genetics and Molecular Biology, Drosophila, DEAD-box RNA Helicases, Oogenesis, Germ cells, Animals, Drosophila Proteins, Oogenesis -- Physiology, Drosophila -- Molecular genetics, snRNP, lcsh:Science (General), lcsh:QH301-705.5, Germ-Line Mutation, Ribonucleoprotein, Medicine(all), Genetics, Microscopy, Confocal, Biochemistry, Genetics and Molecular Biology(all), lcsh:R, Gemin3, General Medicine, Spinal muscular atrophy, Ribonucleoproteins, Small Nuclear, RNA Helicase A, Chromatin, Chromosomes, Insect, RNA silencing, Drosophila melanogaster, Cajal body, lcsh:Biology (General), Oocytes, Female, Motor neurons -- Research, Drosophila Protein, Small nuclear RNA, lcsh:Q1-390
Abstract

Background: DEAD-box RNA helicase Gemin3 is an essential protein since its deficiency is lethal in both vertebrates and invertebrates. In addition to playing a role in transcriptional regulation and RNA silencing, as a core member of the SMN (survival of motor neurons) complex, Gemin3 is required for the biogenesis of spliceosomal snRNPs (small nuclear ribonucleoproteins), and axonal mRNA metabolism. Studies in the mouse and C. elegans revealed that loss of Gemin3 function has a negative impact on ovarian physiology and development. Findings. This work reports on the generation and characterisation of gemin3 mutant germline clones in Drosophila adult females. Gemin3 was found to be required for the completion of oogenesis and its loss led to egg polarity defects, oocyte mislocalisation, and abnormal chromosome morphology. Canonical Cajal bodies were absent in the majority of gemin3 mutant egg chambers and histone locus bodies displayed an atypical morphology. snRNP distribution was perturbed so that on gemin3 loss, snRNP cytoplasmic aggregates (U bodies) were only visible in wild type. Conclusions: These findings establish a conserved requirement for Gemin3 in Drosophila oogenesis. Furthermore, in view of the similarity to the phenotypes described previously in smn mutant germ cells, the present results confirm the close functional relationship between SMN and Gemin3 on a cellular level., peer-reviewed

Published
2012

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