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Systematic proteome and proteostasis profiling in human Trisomy 21 fibroblast cells

Liu, Yansheng
Li, Li
Müller, Torsten
Williams, Evan G
Germain, Pierre-Luc
Buljan, Marija
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Published in Nature communications. 2017, vol. 8, no. 1, 1212
Abstract Down syndrome (DS) is mostly caused by a trisomy of the entire Chromosome 21 (Trisomy 21, T21). Here, we use SWATH mass spectrometry to quantify protein abundance and protein turnover in fibroblasts from a monozygotic twin pair discordant for T21, and to profile protein expression in 11 unrelated DS individuals and matched controls. The integration of the steady-state and turnover proteomic data indicates that protein-specific degradation of members of stoichiometric complexes is a major determinant of T21 gene dosage outcome, both within and between individuals. This effect is not apparent from genomic and transcriptomic data. The data also reveal that T21 results in extensive proteome remodeling, affecting proteins encoded by all chromosomes. Finally, we find broad, organelle-specific post-transcriptional effects such as significant downregulation of the mitochondrial proteome contributing to T21 hallmarks. Overall, we provide a valuable proteomic resource to understand the origin of DS phenotypic manifestations.
PMID: 29089484
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Research group Pathologie Moléculaire de la Trisomie 21 et le Génome Humain (248)
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LIU, Yansheng et al. Systematic proteome and proteostasis profiling in human Trisomy 21 fibroblast cells. In: Nature Communications, 2017, vol. 8, n° 1, p. 1212. doi: 10.1038/s41467-017-01422-6 https://archive-ouverte.unige.ch/unige:100026

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Deposited on : 2017-12-07

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