Literature DB >> 15057492

CD45 variant alleles: possibly increased frequency of a novel exon 4 CD45 polymorphism in HIV seropositive Ugandans.

Tara Stanton1, Sally Boxall, Andrea Bennett, Pontiano Kaleebu, Christine Watera, Jimmy Whitworth, Neil French, Ritu Dawes, Adrian V S Hill, Walter Bodmer, Peter C L Beverley, Elma Z Tchilian.   

Abstract

The CD45 (leucocyte common) antigen is a haemopoietic cell specific tyrosine phosphatase essential for antigen receptor signalling in lymphocytes, and expression of different CD45 isoforms is associated with distinct functions. Here we describe a novel polymorphism in exon 4 (A54G) of the gene encoding CD45 (PTPRC) that results in an amino acid substitution of Thr-19 to Ala in exon 4. The 54G allele was identified in African Ugandan populations and was found with a suggestive but not statistically significant increase in frequency amongst HIV-seropositive Ugandans. This suggests that the 54G variant and CD45 splicing abnormalities might be associated with HIV infection.

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Year:  2004        PMID: 15057492     DOI: 10.1007/s00251-004-0668-z

Source DB:  PubMed          Journal:  Immunogenetics        ISSN: 0093-7711            Impact factor:   2.846


  23 in total

Review 1.  CD45: a critical regulator of signaling thresholds in immune cells.

Authors:  Michelle L Hermiston; Zheng Xu; Arthur Weiss
Journal:  Annu Rev Immunol       Date:  2001-12-19       Impact factor: 28.527

2.  Mutations in the tyrosine phosphatase CD45 gene in a child with severe combined immunodeficiency disease.

Authors:  C Kung; J T Pingel; M Heikinheimo; T Klemola; K Varkila; L I Yoo; K Vuopala; M Poyhonen; M Uhari; M Rogers; S H Speck; T Chatila; M L Thomas
Journal:  Nat Med       Date:  2000-03       Impact factor: 53.440

3.  A point mutation in PTPRC is associated with the development of multiple sclerosis.

Authors:  M Jacobsen; D Schweer; A Ziegler; R Gaber; S Schock; R Schwinzer; K Wonigeit; R B Lindert; O Kantarci; J Schaefer-Klein; H I Schipper; W H Oertel; F Heidenreich; B G Weinshenker; N Sommer; B Hemmer
Journal:  Nat Genet       Date:  2000-12       Impact factor: 38.330

4.  Normal B lymphocyte development but impaired T cell maturation in CD45-exon6 protein tyrosine phosphatase-deficient mice.

Authors:  K Kishihara; J Penninger; V A Wallace; T M Kündig; K Kawai; A Wakeham; E Timms; K Pfeffer; P S Ohashi; M L Thomas
Journal:  Cell       Date:  1993-07-16       Impact factor: 41.582

5.  PTPRC (CD45) is not associated with the development of multiple sclerosis in U.S. patients.

Authors:  L F Barcellos; S Caillier; L Dragone; M Elder; E Vittinghoff; P Bucher; R R Lincoln; M Pericak-Vance; J L Haines; A Weiss; S L Hauser; J R Oksenberg
Journal:  Nat Genet       Date:  2001-09       Impact factor: 38.330

6.  A deletion in the gene encoding the CD45 antigen in a patient with SCID.

Authors:  E Z Tchilian; D L Wallace; R S Wells; D R Flower; G Morgan; P C Beverley
Journal:  J Immunol       Date:  2001-01-15       Impact factor: 5.422

7.  Does 77C-->G in PTPRC modify autoimmune disorders linked to the major histocompatibility locus?

Authors:  I Vorechovsky; J Kralovicova; E Tchilian; T Masterman; Z Zhang; B Ferry; S Misbah; H Chapel; D Webster; D Hellgren; M Anvret; J Hillert; L Hammarstrom; P C Beverley
Journal:  Nat Genet       Date:  2001-09       Impact factor: 38.330

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

Authors:  Clara Ballerini; Eleonora Rosati; Marco Salvetti; Giovanni Ristori; Stefania Cannoni; Tiziana Biagioli; Luca Massacesi; Sandro Sorbi; Marco Vergelli
Journal:  Neurosci Lett       Date:  2002-08-16       Impact factor: 3.046

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

Authors:  Marc Jacobsen; Steve Hoffmann; Sabine Cepok; Susanne Stei; Andreas Ziegler; Norbert Sommer; Bernhard Hemmer
Journal:  Immunogenetics       Date:  2002-04-27       Impact factor: 2.846

10.  Memory CD8+ T cells vary in differentiation phenotype in different persistent virus infections.

Authors:  Victor Appay; P Rod Dunbar; Margaret Callan; Paul Klenerman; Geraldine M A Gillespie; Laura Papagno; Graham S Ogg; Abigail King; Franziska Lechner; Celsa A Spina; Susan Little; Diane V Havlir; Douglas D Richman; Norbert Gruener; Gerd Pape; Anele Waters; Philippa Easterbrook; Mariolina Salio; Vincenzo Cerundolo; Andrew J McMichael; Sarah L Rowland-Jones
Journal:  Nat Med       Date:  2002-04       Impact factor: 53.440

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  4 in total

Review 1.  CD45: all is not yet crystal clear.

Authors:  Nick Holmes
Journal:  Immunology       Date:  2006-02       Impact factor: 7.397

2.  Altered CD45 expression in C77G carriers influences immune function and outcome of hepatitis C infection.

Authors:  R Dawes; B Hennig; W Irving; S Petrova; S Boxall; V Ward; D Wallace; D C Macallan; M Thursz; A Hill; W Bodmer; P C L Beverley; E Z Tchilian
Journal:  J Med Genet       Date:  2006-02-27       Impact factor: 6.318

Review 3.  Genetic studies of African populations: an overview on disease susceptibility and response to vaccines and therapeutics.

Authors:  Giorgio Sirugo; Branwen J Hennig; Adebowale A Adeyemo; Alice Matimba; Melanie J Newport; Muntaser E Ibrahim; Kelli K Ryckman; Alessandra Tacconelli; Renato Mariani-Costantini; Giuseppe Novelli; Himla Soodyall; Charles N Rotimi; Raj S Ramesar; Sarah A Tishkoff; Scott M Williams
Journal:  Hum Genet       Date:  2008-05-30       Impact factor: 4.132

Review 4.  Viral interference with functions of the cellular receptor tyrosine phosphatase CD45.

Authors:  Nadine Thiel; Jasmin Zischke; Endrit Elbasani; Penelope Kay-Fedorov; Martin Messerle
Journal:  Viruses       Date:  2015-03-23       Impact factor: 5.048

  4 in total

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