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Altamirano, M.

Publications and source records attributed to Altamirano, M..

2 recordsLinked to original sources

Lung function candidate genes in Drosophila melanogaster

RationaleChronic obstructive pulmonary disease (COPD) represents a leading cause of global morbidity and mortality. Genome-wide association studies (GWAS) have implicated numerous genetic variants in lung function impairment, yet confidently identifying the underlying genes and pathways, and translating these findings into mechanistic insight, remains a significant challenge. ObjectivesTo leverage the genetic amenability and high-throughput screening capability of Drosophila melanogaster to determine the role of candidate causal genes in epithelial cell homeostasis. MethodsWe performed a loss-of-function analysis of 60 prioritised lung function candidate causal genes implicated from GWAS in two distinct epithelia: the dorsal thorax and trachea. ResultsWe identified 57/60 tested candidate genes that alter at least one aspect of epithelial morphology and behaviour upon knockdown. With a focus on junctional integrity, cell delamination and tissue growth, we identified 11 genes for further study: Sec6, RpS26, pAbp, Arf102f, Riok1, Sra-1, Inpp5e, CG31759, ssh, eIF6 and Rtf1. Further characterisation found a significant reduction in junctional E-Cadherin levels following Arf102F, Rtf1, RioK1 and Sra-1 knockdown. Following a secondary screen in the Drosophila tracheal system for priority candidates, Sec6 and RpS26 were associated with significant airway defects and a reduction in larval body size. 8/11 priority genes exhibited differential lung gene expression between controls and patients with COPD. ConclusionsThese data demonstrate the amenability of Drosophila melanogaster to perform in vivo functional analyses of candidate causal genes at scale. Initial findings implicate several genes in epithelial homeostasis and integrity, providing new mechanistic understanding and potential therapeutic targets for COPD. Graphical Abstract O_FIG O_LINKSMALLFIG WIDTH=200 HEIGHT=164 SRC="FIGDIR/small/731340v1_ufig1.gif" ALT="Figure 1"> View larger version (44K): org.highwire.dtl.DTLVardef@dbff6dorg.highwire.dtl.DTLVardef@15e84f0org.highwire.dtl.DTLVardef@69d97aorg.highwire.dtl.DTLVardef@144f47e_HPS_FORMAT_FIGEXP M_FIG C_FIG

Cell Biology↗

The invasive brown seaweed Rugulopteryx okamurae (Dictyotales, Ochrophyta) continues to expand: first record in Italy.

The brown seaweed Rugulopteryx okamurae (Dictyotales, Ochrophyta), native to the Pacific Ocean and widely distributed in Asia, has been recently recognized as an emblematic case of biological invasion by marine macroalgae in European waters. Since 2015 and from the Strait of Gibraltar, R. okamurae has rapidly spread towards Atlantic and Mediterranean coastal areas exhibiting an invasive behaviour with significant ecological and economic impacts. Here, we report by morphology and genetics the first observation of this species in Italy along the north-western coast of Sicily (Gulf of Palermo), as drifted material and an established population on Posidonia oceanica, representing its new eastern distribution limit in the Mediterranean Sea, previously established in Marseilles (France). Furthermore, we have performed with the current introduced distribution of the species a favorability distribution model for the Mediterranean, which shows most of the western Mediterranean, including the Balearic archipelago, Corsica and Sardinia, central Mediterranean, including Sicily, and the northern coast of Africa together with eastern Mediterranean basin, as highly favorable for R. okamurae. Arrival of the species into this new area is suggested by means of sea currents and maritime traffic, including fishing activities, hypothesis supported by some of the ranked variables that entered the favorability model, i.e, current velocity, and proximity of fishing ports. These results are a warning that the species can cover large sea distances favored by sea currents, thus also threatening the ecosystems and marine resources of the central and eastern Mediterranean, highly favorable regions for the species. We suggest coordinated actions at the European level regarding prevention, among which those that have the complicity of the fishing sector should be considered, both because it is a highly affected sector and because it potentially has a very important role in the dispersion of the species.

plant biology↗