Dataset Information

Franco-Swiss HPP project (Chromosomes 2 and 14)

ABSTRACT: The dataset is a concatenation of nanoLC-MS/MS analyses performed on different sample types/sample preparations of human proteins on various instrumental platforms in the laboratory. A franco-swiss collaboration to identify missing human proteins on chromosomes 2 and 14 in the frame of the Human Proteome Project, set up a bioinformatic screen over all datasets accumulated in the laboratory in order to detect proteins classified as “missing” by NextProt.

INSTRUMENT(S): LTQ Orbitrap Velos, Q Exactive

ORGANISM(S): Homo Sapiens (human)

TISSUE(S): Spleen, Urine, Blood Cell, Cell Suspension Culture, Blood Plasma, Leukocyte, Cerebrospinal Fluid, Permanent Cell Line Cell, Hela Cell, Erythrocyte, Primary Cell, Cell Culture, Fibroblast, Jurkat Cell

DISEASE(S): Brain Glioblastoma Multiforme,Lymphoma

SUBMITTER: Emmanuelle Mouton Barbosa

LAB HEAD: Odile Bruley Schiltz

PROVIDER: PXD002131 | Pride | 2015-07-17

REPOSITORIES: Pride

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Publications

Computational and Mass-Spectrometry-Based Workflow for the Discovery and Validation of Missing Human Proteins: Application to Chromosomes 2 and 14.

Carapito Christine C Lane Lydie L Benama Mohamed M Opsomer Alisson A Mouton-Barbosa Emmanuelle E Garrigues Luc L Gonzalez de Peredo Anne A Burel Alexandre A Bruley Christophe C Gateau Alain A Bouyssié David D Jaquinod Michel M Cianferani Sarah S Burlet-Schiltz Odile O Van Dorsselaer Alain A Garin Jérôme J Vandenbrouck Yves Y

Journal of proteome research 20150722 9

In the framework of the C-HPP, our Franco-Swiss consortium has adopted chromosomes 2 and 14, coding for a total of 382 missing proteins (proteins for which evidence is lacking at protein level). Over the last 4 years, the French proteomics infrastructure has collected high-quality data sets from 40 human samples, including a series of rarely studied cell lines, tissue types, and sample preparations. Here we described a step-by-step strategy based on the use of bioinformatics screening and subseq ...[more]

PMID: 26132440

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Project description:BackgroundHypophosphatasia (HPP) is a rare, inherited, metabolic bone disease caused by deficient tissue-non-specific isoenzyme of alkaline phosphatase activity that manifests as a broad range of signs/symptoms, including bone mineralization defects and systemic complications. The burden of disease is poorly characterized, particularly in children. This study aimed to characterize the patient-reported burden of disease among children with HPP using two survey instruments: the HPP Impact Patient Survey (HIPS) and the HPP Outcomes Study Telephone interview (HOST).MethodsBetween September 2009 and June 2011, pediatric patients (aged younger than 18?years) with HPP were recruited to participate in the study via patient advocacy groups or their medical provider. Survey questions were used to capture information on patient demographics, HPP-related medical history, mobility, and health-related quality of life (HRQoL; using the 10-item Short-Form Health Survey for Children [SF-10], HIPS only).ResultsCommon clinical features of the 59 pediatric survey respondents (mean [standard deviation] age: 7.6 [5.1] years; 51% male) included pain (86% of patients), muscle weakness (71%), difficulty gaining weight (64%), and delayed walking (59%). Fracture was reported by 36% of patients; multiple fractures were also reported (15% of patients). Use of assistive devices for mobility was frequent among the study population (51%). In response to the SF-10, patients reported a substantial impact of HPP on their HRQoL; physical function was the most severely impaired component relative to normative data. Of patients responding to the HOST, two-thirds experienced worsening of at least one of their HPP-related signs/symptoms over a 5-year period.ConclusionsIn pediatric patients, HPP is associated with a high burden of disease and a substantial negative impact on HRQoL. The burden of HPP may increase and HRQoL reduce further over time as signs/symptoms that affect HRQoL worsen or new signs/symptoms manifest.

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