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The PCBP1 gene encoding poly(rc) binding protein i is recurrently mutated in Burkitt lymphoma
Genes chromosomes & cancer, 2015-09, Vol.54 (9), p.555-564
Wagener, Rabea
Aukema, Sietse M.
Schlesner, Matthias
Haake, Andrea
Burkhardt, Birgit
Claviez, Alexander
Drexler, Hans G.
Hummel, Michael
Kreuz, Markus
Loeffler, Markus
Rosolowski, Maciej
López, Cristina
Möller, Peter
Richter, Julia
Rohde, Marius
Betts, Matthew J.
Russell, Robert B.
Bernhart, Stephan H.
Hoffmann, Steve
Rosenstiel, Philip
Schilhabel, Markus
Szczepanowski, Monika
Trümper, Lorenz
Klapper, Wolfram
Siebert, Reiner
2015
Volltextzugriff (PDF)
Details
Autor(en) / Beteiligte
Wagener, Rabea
Aukema, Sietse M.
Schlesner, Matthias
Haake, Andrea
Burkhardt, Birgit
Claviez, Alexander
Drexler, Hans G.
Hummel, Michael
Kreuz, Markus
Loeffler, Markus
Rosolowski, Maciej
López, Cristina
Möller, Peter
Richter, Julia
Rohde, Marius
Betts, Matthew J.
Russell, Robert B.
Bernhart, Stephan H.
Hoffmann, Steve
Rosenstiel, Philip
Schilhabel, Markus
Szczepanowski, Monika
Trümper, Lorenz
Klapper, Wolfram
Siebert, Reiner
Titel
The PCBP1 gene encoding poly(rc) binding protein i is recurrently mutated in Burkitt lymphoma
Ist Teil von
Genes chromosomes & cancer, 2015-09, Vol.54 (9), p.555-564
Ort / Verlag
United States: Blackwell Publishing Ltd
Erscheinungsjahr
2015
Quelle
MEDLINE
Beschreibungen/Notizen
The genetic hallmark of Burkitt lymphoma is the translocation t(8;14)(q24;q32), or one of its light chain variants, resulting in IG‐MYC juxtaposition. However, these translocations alone are insufficient to drive lymphomagenesis, which requires additional genetic changes for malignant transformation. Recent studies of Burkitt lymphoma using next generation sequencing approaches have identified various recurrently mutated genes including ID3, TCF3, CCND3, and TP53. Here, by using similar approaches, we show that PCBP1 is a recurrently mutated gene in Burkitt lymphoma. By whole‐genome sequencing, we identified somatic mutations in PCBP1 in 3/17 (18%) Burkitt lymphomas. We confirmed the recurrence of PCBP1 mutations by Sanger sequencing in an independent validation cohort, finding mutations in 3/28 (11%) Burkitt lymphomas and in 6/16 (38%) Burkitt lymphoma cell lines. PCBP1 is an intron‐less gene encoding the 356 amino acid poly(rC) binding protein 1, which contains three K‐Homology (KH) domains and two nuclear localization signals. The mutations predominantly (10/12, 83%) affect the KH III domain, either by complete domain loss or amino acid changes. Thus, these changes are predicted to alter the various functions of PCBP1, including nuclear trafficking and pre‐mRNA splicing. Remarkably, all six primary Burkitt lymphomas with a PCBP1 mutation expressed MUM1/IRF4, which is otherwise detected in around 20–40% of Burkitt lymphomas. We conclude that PCBP1 mutations are recurrent in Burkitt lymphomas and might contribute, in cooperation with other mutations, to its pathogenesis. © 2015 Wiley Periodicals, Inc.
Sprache
Englisch
Identifikatoren
ISSN: 1045-2257
eISSN: 1098-2264
DOI: 10.1002/gcc.22268
Titel-ID: cdi_proquest_miscellaneous_1705077328
Format
–
Schlagworte
Adolescent
,
Adult
,
Aged
,
Burkitt Lymphoma - genetics
,
Burkitt Lymphoma - metabolism
,
Cell Line, Tumor
,
Child
,
Child, Preschool
,
Cohort Studies
,
Female
,
Gene Expression
,
Heterogeneous-Nuclear Ribonucleoproteins - chemistry
,
Heterogeneous-Nuclear Ribonucleoproteins - genetics
,
Heterogeneous-Nuclear Ribonucleoproteins - metabolism
,
Humans
,
Male
,
Mutation
,
Protein Isoforms - chemistry
,
Protein Isoforms - genetics
,
Protein Isoforms - metabolism
,
Young Adult
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