Project description:The study aims to investigate the relevance of NKp30 receptor in the salivary glands inflammation of Sjogren’s syndrome patients in comparison to sicca patients (control group) analysing the transcriptomic profile of salivary gland tissues.
Project description:<p>The Sjögren's International Collaborative Clinical Alliance (SICCA) is a multisite observational cohort study that recruited a large cohort of geographically diverse participants. Enrollment of participants began in late 2004 at five (one domestic and four international) sites, in which all groups used the same protocol-directed methods to provide uniform evaluations; collect oral, ocular, and rheumatologic data; and collect specimens. The sites were located at the University of Buenos Aires, Argentina; Peking Union Medical College, Beijing, China; Rigshopitalet (formerly at Glostrup Hospital), Copenhagen, Denmark; Kanazawa Medical University, Ishikawa, Japan; King's College, London, UK (joined in 2007); and the University of California, San Francisco (UCSF). In 2009, Aravind Eye Hospital, Madurai, India; Johns Hopkins University, Baltimore, MD; and University of Pennsylvania, Philadelphia, PA were added as additional SICCA sites. UCSF is the coordinating center for SICCA. All specimens and data collected for SICCA are housed at UCSF.</p> <p>To facilitate the research focused on understanding the genetics of Sjögren'sSjögren's syndrome, high-density SNP genotype data and SICCA clinical information are being made available to the research community. This includes participants recruited from all SICCA research groups (RG). These participants (3,382), blood relatives (439), and unrelated healthy controls (25) had their whole blood or saliva sample (Oragene) extracted for DNA for the GWAS at the UCSF DNA Bank. Eighty eight percent of the participants are women, most are of European or Asian ancestry and the median age is 55.</p> <p>To assess potential batch effects when doing case-control comparisons using planned external controls, 30 DNA samples from each of three studies were genotyped with SICCA DNA samples:</p> <ol> <li>The Genetic Architecture of Smoking and Smoking Cessation - <a href="http://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000404.v1.p1">Collaborative Genetic Study of Nicotine Dependence (COGEND)</a> - PI: Laura Bierut.</li> <li>NEI-Age-related disease study (AREDS) - <a href="http://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000429.v1.p1">Genetic Variation in Refractive Error Substudy</a> - PI: Dwight Stambolian.</li> <li>Controls from the National Institute of Mental Health's <a href="http://www.nimhgenetics.org/available_data/controls/">(NIMH's)</a> Human Genetics Initiative.</li> </ol> <ul><a href="http://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000021.v3.p2">Genome-Wide Association Study of Schizophrenia</a> - PI: Pablo V. Gejman.</ul> <ul><a href="http://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000167.v1.p1">Molecular Genetics of Schizophrenia - nonGAIN Sample</a> (MGS_nonGAIN) - PI: Pablo V. Gejman.</ul> <p>Genotyping was performed at the Johns Hopkins University Center for Inherited Disease Research (CIDR). Data quality control, dbGaP preparation and posting, and imputation to 1000 Genomes to increase SNP density was performed by the Center for Biomedical Statistics at the University of Washington. Data analysis was performed at UCSF using software PLINK, EIGENSOFT, and SNPTEST.</p>
Project description:Leishmania donovani WHO reference strain MHOM/IN/80/DD8 and Leptomonas seymouri isolates Ld 2001 and Ld39 were used for proteome analysis which were originally isolated from clinical cases of kala azar patients with different inherent antimonial sensitivities. Ld 2001 was Sb-S and Ld 39 was Sb-R. The genome sequencing of these isolates had confirmed co-infection with Leptomonas.
Project description:Candida lusitaniae is an emerging human opportunistic yeast, which can switch from yeast to pseudohyphae, and one of the rare Candida species capable of sexual reproduction. Its haploid genome and the genetic tools available make it a model of interest to study gene function. This study describes the consequences of DPP3 inactivation on cell morphology and mating, both altered in the dpp3Δ knock-out. Interestingly, reintroducing a wild-type copy of the DPP3 gene in the dpp3Δ mutant failed to restore the wild-type phenotypes. Proteomic analyses showed that about 150 proteins were statistically deregulated in the dpp3Δ mutant, and that most of them did not return to their wild-type level in the reconstituted DPP3 strain. The analysis of the segregation of the dpp3Δ mutation and the phenotypes in the progeny of a cross (between the dpp3Δ knock-out and a wild-type strain) showed that the phenotypes are not linked to dpp3Δ, but to a secondary mutation. Genome sequencing of the dpp3Δ mutant allowed us to identify this secondary mutation.