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Nuclei are actively positioned and anchored to the cytoskeleton via the LINC (Linker of Nucleoskeleton and Cytoskeleton) complex. We identified mutations in the Parkin-like E3 ubiquitin ligase Ariadne-1 (Ari-1) that affect the localization and distribution of LINC complex members in Drosophila. ari-1 mutants exhibit nuclear clustering and morphology defects in larval muscles. We show that Ari-1 mono-ubiquitinates the core LINC complex member Koi. Surprisingly, we discovered functional redundancy between Parkin and Ari-1: increasing Parkin expression rescues ari-1 mutant phenotypes and vice versa. We further show that rare variants in the human homolog of ari-1 (ARIH1) are associated with thoracic aortic aneurysms and dissections, conditions resulting from smooth muscle cell (SMC) dysfunction. Human ARIH1 rescues fly ari-1 mutant phenotypes, whereas human variants found in patients fail to do so. In addition, SMCs obtained from patients display aberrant nuclear morphology. Hence, ARIH1 is critical in anchoring myonuclei to the cytoskeleton.
Pubmed ID: 29689197 RIS Download
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Web tool to search multiple public variant databases simultaneously and provide a unified interface to facilitate the search process. Used for integration of human and model organism genetic resources to facilitate functional annotation of the human genome. Used for analysis of human genes and variants by cross-disciplinary integration of records available in public databases to facilitate clinical diagnosis and basic research.
View all literature mentionsCollects, maintains and distributes Drosophila melanogaster strains for research. Emphasis is placed on genetic tools that are useful to a broad range of investigations. These include basic stocks of flies used in genetic analysis such as marker, balancer, mapping, and transposon-tagging strains; mutant alleles of identified genes, including a large set of transposable element insertion alleles; defined sets of deficiencies and a variety of other chromosomal aberrations; engineered lines for somatic and germline clonal analysis; GAL4 and UAS lines for targeted gene expression; enhancer trap and lacZ-reporter strains with defined expression patterns for marking tissues; and a collection of transposon-induced lethal mutations.
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View all literature mentionsThis unknown targets EZview(TM) Red HA Affinity Gel
View all literature mentionsThis monoclonal targets HA.11 Clone 16B12 Alexa Fluor Labeled
View all literature mentionsThis polyclonal targets Koi D melanogaster
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View all literature mentionsThis monoclonal targets Lamin A/C
View all literature mentionsDrosophila melanogaster with name w[1118]; P{w[+mGT]=GT1}Ubc10[BG00902]/CyO from BDSC.
View all literature mentionsDrosophila melanogaster with name w[*]; park[Delta21]/TM3, P{w[+mC]=GAL4-Kr.C}DC2, P{w[+mC]=UAS-GFP.S65T}DC10, Sb[1] from BDSC.
View all literature mentionsDrosophila melanogaster with name w[1118]; Dp(1;3)DC342, PBac{y[+mDint2] w[+mC]=DC342}VK00033 from BDSC.
View all literature mentionsDrosophila melanogaster with name Df(1)os[UE69]/C(1)DX, y[1] f[1]/Dp(1;Y)W39, y[+] from BDSC.
View all literature mentionsDrosophila melanogaster with name w[*]; Kr[If-1]/CyO; P{w[+mW.hs]=GAL4-da.G32}UH1 from BDSC.
View all literature mentionsDrosophila melanogaster with name y[1] w[*]; P{w[+mC]=GAL4-Mef2.R}3 from BDSC.
View all literature mentionsDrosophila melanogaster with name Df(1)BSC352, w[1118]/FM7h/Dp(2;Y)G, P{w[+mC]=hs-hid}Y from BDSC.
View all literature mentionsDrosophila melanogaster with name w[1118]; Df(2R)BSC347/CyO from BDSC.
View all literature mentionsDrosophila melanogaster with name w[1118]; Df(2R)Exel6050, P{w[+mC]=XP-U}Exel6050/CyO from BDSC.
View all literature mentionsDrosophila melanogaster with name w[*]; park[Delta21]/TM3, P{w[+mC]=GAL4-Kr.C}DC2, P{w[+mC]=UAS-GFP.S65T}DC10, Sb[1] from BDSC.
View all literature mentionsDrosophila melanogaster with name w[1118]; P{w[+mGT]=GT1}Ubc10[BG00902]/CyO from BDSC.
View all literature mentionsDrosophila melanogaster with name w[1118]; Df(2R)BSC347/CyO from BDSC.
View all literature mentionsDrosophila melanogaster with name w[1118]; Df(2R)Exel6050, P{w[+mC]=XP-U}Exel6050/CyO from BDSC.
View all literature mentionsDrosophila melanogaster with name Df(1)BSC352, w[1118]/FM7h/Dp(2;Y)G, P{w[+mC]=hs-hid}Y from BDSC.
View all literature mentionsDrosophila melanogaster with name y[1] w[*]; P{w[+mC]=GAL4-Mef2.R}3 from BDSC.
View all literature mentionsDrosophila melanogaster with name w[*]; Kr[If-1]/CyO; P{w[+mW.hs]=GAL4-da.G32}UH1 from BDSC.
View all literature mentionsDrosophila melanogaster with name w[1118]; Dp(1;3)DC342, PBac{y[+mDint2] w[+mC]=DC342}VK00033 from BDSC.
View all literature mentionsDrosophila melanogaster with name Df(1)os[UE69]/C(1)DX, y[1] f[1]/Dp(1;Y)W39, y[+] from BDSC.
View all literature mentionsThis unknown targets T7•Tag® Agarose
View all literature mentionsThis unknown targets EZview(TM) Red HA Affinity Gel
View all literature mentionsThis unknown targets ANTI-FLAG(R) M2 Affinity Gel
View all literature mentionsThis monoclonal targets V5 Agarose Affinity Gel antibody produced in mouse
View all literature mentionsThis unknown targets
View all literature mentionsThis polyclonal targets ANXA3
View all literature mentionsThis unknown targets GST
View all literature mentionsThis unknown targets T7 Epitope Tag
View all literature mentionsThis monoclonal targets ATP5A1
View all literature mentionsThis monoclonal targets FLAG
View all literature mentionsThis monoclonal targets V5 Tag
View all literature mentionsThis monoclonal targets actin
View all literature mentionsThis polyclonal targets GFP
View all literature mentionsThis monoclonal targets Lamin C
View all literature mentionsThis polyclonal targets GFP
View all literature mentionsThis polyclonal targets Koi D melanogaster
View all literature mentionsThis polyclonal targets Msp300
View all literature mentionsThis unknown targets Biotin
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