DNAJC17 is localized in nuclear speckles and interacts with splicing machinery components

Scientific Reports
A PascarellaElena Amendola

Abstract

DNAJC17 is a heat shock protein (HSP40) family member, identified in mouse as susceptibility gene for congenital hypothyroidism. DNAJC17 knockout mouse embryos die prior to implantation. In humans, germline homozygous mutations in DNAJC17 have been found in syndromic retinal dystrophy patients, while heterozygous mutations represent candidate pathogenic events for myeloproliferative disorders. Despite widespread expression and involvement in human diseases, DNAJC17 function is still poorly understood. Herein, we have investigated its function through high-throughput transcriptomic and proteomic approaches. DNAJC17-depleted cells transcriptome highlighted genes involved in general functional categories, mainly related to gene expression. Conversely, DNAJC17 interactome can be classified in very specific functional networks, with the most enriched one including proteins involved in splicing. Furthermore, several splicing-related interactors, were independently validated by co-immunoprecipitation and in vivo co-localization. Accordingly, co-localization of DNAJC17 with SC35, a marker of nuclear speckles, further supported its interaction with spliceosomal components. Lastly, DNAJC17 up-regulation enhanced splicing efficiency of mi...Continue Reading

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Citations

Feb 20, 2019·Mammalian Genome : Official Journal of the International Mammalian Genome Society·Amanda H MortensenSally A Camper
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Methods Mentioned

BETA
RNAseq
transfection
Co-immunoprecipitation
Phenotyping
RNA-seq
co-IP
PCR
Protein assay
X-ray
electrophoresis

Software Mentioned

ChemiDoc XRS
Proteome Discoverer
ImageLab
ImageJ
MASCOT
Ensembl
R package clusterProfiler
Image J
TopHat aligner
Cufflinks

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