Unknown,Transcriptomics,Genomics,Proteomics

Dataset Information

SMN2 splicing modifiers improve motor function and longevity in mice with spinal muscular atrophy

ABSTRACT: Characterization of the selectivity of SMN splicing modifiers in SMA type I fibroblasts by RNASeq In total 12 samples were analyzed, divided into four distinct groups (treated with SMN-C3 @ 500 nM; controls for SMN-C3; treated with SMN-C1 @ 100 nM; controls for SMN-C1) containing 3 replicates each.

ORGANISM(S): Homo sapiens

SUBMITTER: Friedrich Metzger

PROVIDER: E-GEOD-62540 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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Publications

Motor neuron disease. SMN2 splicing modifiers improve motor function and longevity in mice with spinal muscular atrophy.

Naryshkin Nikolai A NA Weetall Marla M Dakka Amal A Narasimhan Jana J Zhao Xin X Feng Zhihua Z Ling Karen K Y KK Karp Gary M GM Qi Hongyan H Woll Matthew G MG Chen Guangming G Zhang Nanjing N Gabbeta Vijayalakshmi V Vazirani Priya P Bhattacharyya Anuradha A Furia Bansri B Risher Nicole N Sheedy Josephine J Kong Ronald R Ma Jiyuan J Turpoff Anthony A Lee Chang-Sun CS Zhang Xiaoyan X Moon Young-Choon YC Trifillis Panayiota P Welch Ellen M EM Colacino Joseph M JM Babiak John J Almstead Neil G NG Peltz Stuart W SW Eng Loren A LA Chen Karen S KS Mull Jesse L JL Lynes Maureen S MS Rubin Lee L LL Fontoura Paulo P Santarelli Luca L Haehnke Daniel D McCarthy Kathleen D KD Schmucki Roland R Ebeling Martin M Sivaramakrishnan Manaswini M Ko Chien-Ping CP Paushkin Sergey V SV Ratni Hasane H Gerlach Irene I Ghosh Anirvan A Metzger Friedrich F

Science (New York, N.Y.) 20140801 6197

Spinal muscular atrophy (SMA) is a genetic disease caused by mutation or deletion of the survival of motor neuron 1 (SMN1) gene. A paralogous gene in humans, SMN2, produces low, insufficient levels of functional SMN protein due to alternative splicing that truncates the transcript. The decreased levels of SMN protein lead to progressive neuromuscular degeneration and high rates of mortality. Through chemical screening and optimization, we identified orally available small molecules that shift th ...[more]

PMID: 25104390

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Project description:Plants and animals have evolved a first line of defense response to pathogens called innate or basal immunity. While basal defenses in these organisms are well studied, there is almost a complete lack of understanding of such systems in fungal species, and more specifically, how they are able to detect and mount a defense response upon pathogen attack. Hence, the goal of the present study was to understand how fungi respond to biotic stress by assessing the transcriptional profile of the rice blast pathogen, Magnaporthe oryzae, when challenged with the bacterial antagonist Lysobacter enzymogenes. Based on microscopic observations of interactions between M. oryzae and wild-type L. enzymogenes strain C3, we selected early and intermediate stages represented by time-points of 3 and 9 hours post-inoculation, respectively, to evaluate the fungal transcriptome using RNA-seq. For comparative purposes, we also challenged the fungus with L. enzymogenes mutant strain DCA, previously demonstrated to be devoid of antifungal activity. A comparison of transcriptional data from fungal interactions with the wild-type bacterial strain C3 and the mutant strain DCA revealed 463 fungal genes that were down-regulated during attack by C3; of these genes, 100 were also found to be up-regulated during the interaction with DCA. Functional categorization of genes in this suite included those with roles in carbohydrate metabolism, cellular transport and stress response. One gene in this suite belongs to the CFEM-domain class of fungal proteins. Another CFEM class protein called PTH11 has been previously characterized, and we found that a deletion in this gene caused advanced lesion development by C3 compared to its growth on the wild-type fungus. We discuss the characterization of this suite of 100 genes with respect to their role in the fungal defense response. Included in the analysis are two biological replicates each of the fungus in buffer alone (control), the fungus challenged with wild type bacterium at 3 and 9 hours post-inoculation (hpi) and the fungus challeged with the mutant bacterium (mutated for ability to secrete antibiotics and enzymes) at 3 and 9 hpi.

Dataset Information

SMN2 splicing modifiers improve motor function and longevity in mice with spinal muscular atrophy

Publications

Motor neuron disease. SMN2 splicing modifiers improve motor function and longevity in mice with spinal muscular atrophy.

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