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

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.

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An investigation of the C77G and C772T variations within the human protein tyrosine phosphatase receptor type C gene for association with multiple sclerosis in an Australian population

Brain Research ◽

10.1016/j.brainres.2008.12.017 ◽

2009 ◽

Vol 1255 ◽

pp. 148-152 ◽

Cited By ~ 8

Author(s):

Attila L. Szvetko ◽

Ashleigh Jones ◽

Jason Mackenzie ◽

Lotti Tajouri ◽

Peter A. Csurhes ◽

...

Keyword(s):

Multiple Sclerosis ◽

Protein Tyrosine Phosphatase ◽

Tyrosine Phosphatase ◽

Human Protein ◽

Receptor Type ◽

Australian Population ◽

Protein Tyrosine ◽

Type C

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Protein tyrosine phosphatase receptor type C (PTPRC or CD45)

Journal of Clinical Pathology ◽

10.1136/jclinpath-2020-206927 ◽

2021 ◽

pp. jclinpath-2020-206927

Author(s):

Maryam Ahmed Al Barashdi ◽

Ahlam Ali ◽

Mary Frances McMullin ◽

Ken Mills

Keyword(s):

Protein Tyrosine Phosphatase ◽

Protein Tyrosine Kinase ◽

Biological Activities ◽

Tyrosine Phosphatase ◽

Cell Types ◽

Receptor Type ◽

Future Research ◽

Protein Tyrosine ◽

Type C ◽

Almost All

The leucocyte common antigen, protein tyrosine phosphatase receptor type C (PTPRC), also known as CD45, is a transmembrane glycoprotein, expressed on almost all haematopoietic cells except for mature erythrocytes, and is an essential regulator of T and B cell antigen receptor-mediated activation. Disruption of the equilibrium between protein tyrosine kinase and phosphatase activity (from CD45 and others) can result in immunodeficiency, autoimmunity, or malignancy. CD45 is normally present on the cell surface, therefore it works upstream of a large signalling network which differs between cell types, and thus the effects of CD45 on these cells are also different. However, it is becoming clear that CD45 plays an essential role in the innate immune system and this is likely to be a key area for future research. In this review of PTPRC (CD45), its structure and biological activities as well as abnormal expression of CD45 in leukaemia and lymphoma will be discussed.

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