Protein Tyrosine Phosphatase Receptor Type C Research Articles

Gene expression profiling analysis of patients with ankylosing spondylitis.

A comprehensive bioinformatics analysis of genes which may have correlations with ankylosing spondylitis (AS). To study the mechanisms of AS by analyzing microarray of GSE25101. AS is an inflammatory arthritis that can lead to chronic pain and disability. GSE25101 was downloaded from Gene Expression Omnibus including 16 AS patients and 16 normal controls. The differentially expressed genes (DEGs) were screened using limma package in Bioconductor and miRNAs targeted DEGs were predicted. Then, gene ontology and pathway enrichment analysis of DEGs was performed using Database for Annotation, Visualization, and Integrated Discovery. Besides, the interaction relationships of the proteins encoded by DEGs were searched by STRING, and the protein-protein interaction (PPI) network was visualized by Cytoscape. Moreover, modules analysis of PPI network was performed using Clique Percolation Method in CFinder. A total of 284 DEGs were screened and 1899 miRNA-mRNA regulatory pairs were obtained. Both myosin heavy chain 9 (MYH9) and B-cell chronic lymphocytic leukemia/lymphoma 11B (BCL11B) were targeted by has-miR-124 and has-miR-363. Function enrichment analyze indicated that these DEGs, especially, downregulated protein tyrosine phosphatase receptor-type C (PTPRC), cluster of differentiation 3γ (CD3G), cluster of differentiation 247 (CD247), cluster of differentiation 4 (CD4), interleukin 7 receptor (IL7R), MYH9, and BCL11B were associated with regulation of immune response. Meanwhile, CD4 (degree=25), perforin 1 (PRF1) (degree=15), PTPRC (degree=13), and CD247 (degree=9) had higher connectivity degrees in the PPI network for the DEGs. And they might be involved in AS by interacting with other genes in module B (eg, PTPRC-IL7R, CD3G-CD247, and PRF1-PTPRC). MYH9, BCL11B, PTPRC, CD3G, CD247, CD4, IL7R, and PRF1 might have a correlation with AS.

Quantitative Proteomic Analysis of Peripheral Blood Mononuclear Cells in Ankylosing Spondylitis by iTRAQ.

This study was designed to identify and quantify the different proteins expression levels in ankylosing spondylitis (AS) and to explore the pathogenesis of AS. We performed isobaric tags for relative and absolute quantitation (iTRAQ) coupled with multiple chromatographic fractionation and tandem mass spectrometry to detect the proteins profiling in peripheral blood mononuclear cells (PBMCs) from AS patients and healthy controls. Mascot software and the International Protein Index and the Gene Ontology (GO) database were used to conduct the bioinformatics analysis. The differentially expressed proteins were validated by enzyme-linked immunosorbent assay (ELISA). A total of 1,232 proteins were identified by iTRAQ, of which 183 showed differential expression and 18 differentially expressed proteins were acute phase reactants. Upon mapping of the differentially expressed proteins to GO database, we found four differentially expressed proteins involved in the biological process of cell killing, including up-regulated cathepsin G (CTSG), neutrophil defensin3 (DEFA3), protein tyrosine phosphatase receptor type C (PTPRC), and down-regulated peroxiredoxin-1(PRDX1),which were consistent with the verified results of ELISA. Our proteomic analyses suggested that the proteins involved in the biological process of cell killing might play an important role in the pathogenesis of AS.

No association between transmembrane protein‐tyrosine phosphatase receptor type C (PTPRC) exon A 77C>G transversion and liver transplant rejection

This study was carried out to evaluate the association between 77C>G transversion (rs17612648) in exon A of the PTPRC gene and liver transplant rejection. No significant differences in genotype and allele frequencies of the 77C>G transversion were detected between recipients without rejection (n = 106) and recipients with rejection (n = 104). In conclusion, there was no evidence for the contribution of the 77C>G transversion in susceptibility to liver transplant rejection in a Caucasian population.

CD45 (PTPRC) as a candidate gene in multiple sclerosis

The 77C-->G polymorphism in exon 4 of CD45 or protein tyrosine phosphatase receptor-type C (PTPRC) has been investigated in families with multiple sclerosis (MS) and in several cohorts of sporadic patients and controls, however, with conflicting results. To better understand the role of this functionally important polymorphism in MS, we investigated the transmission of the 'G' allele from unaffected parents to their affected children in 176 families by using linkage and association statistics. The 'G' allele was transmitted to the affected offspring in five of the seven pedigrees carrying this allele and the TRANSMIT program detected association with a P=0.0342. We conclude that the 77C-->G PTPRC polymorphism is present and preferentially transmitted in a small subgroup (<5%) of MS families, which may only be detected with complementary methods of analysis.

Protein tyrosine phosphatase receptor-type C exon 4 gene mutation distribution in an Italian multiple sclerosis population

In this study, we investigate the role of the C→G mutation in position 77 of exon 4 of the protein tyrosine phosphatase receptor-type C (PTPRC) gene, coding for the CD45 molecule, for the development of multiple sclerosis (MS) in an Italian continental population. The PTPRC mutated genotype has been recently described as associated with MS in three different case–control studies carried out in German MS patients, whereas similar studies performed in the US and Swedish populations failed to demonstrate such an association. The C→G transition in position 77 was found in a small number of Italian MS patients and in none of the matched group of healthy controls (Fisher exact test, P value=0.02). This finding suggests a role, in at least a group of patients, for the PTPRC mutation in genetic susceptibility to MS.

A novel mutation in PTPRC interferes with splicing and alters the structure of the human CD45 molecule.

CD45, encoded by the protein tyrosine phosphatase receptor type C ( PTPRC) gene, is essentially involved in maturation, activation, and migration of immune cells. Lack of CD45 results in severe immunodeficiency, and alterations of the receptor may result in autoimmunity. Here, we describe a novel mutation in PTPRCas a cause of variant CD45 expression in humans. Several members of a multiple sclerosis multiplex family showed expression of CD45RA on memory T cells and monocytes. The variant expression pattern was linked to the PTPRCgene by DNA microsatellite studies. DNA analysis identified a novel point mutation in exon 4 (position 59 C-->A) in all family members with variant CD45 expression, but not in donors with normal CD45 expression. The mutation interferes with alternative splicing and alters amino acid sequence (H-->Q), interfering with antibody binding to the CD45RA domain. Overall, we describe the first mutation in PTPRCthat interferes with splicing and results in surface expression of a structurally altered CD45 molecule in humans.