Article
C77G in PTPRC (CD45) is no risk allele for ovarian cancer, but associated with less aggressive disease.
PloS one - 1 Jan 2017
Landskron Johannes, Kraggerud Sigrid M, Wik Elisabeth, Dørum Anne, Bjørnslett Merete, Melum Espen, Helland Øystein, Bjørge Line, Lothe Ragnhild A, Salvesen Helga B, Taskén Kjetil
Abstract excerpt
The pan lymphocyte marker CD45 exists in various isoforms arising from alternative splicing of the exons 4, 5 and 6. While naïve T cells express CD45RA translated from an mRNA containing exon 4, exons 4-6 are spliced out to encode the shorter CD45R0 in antigen-experienced effector/memory T cells. The SNP C77G (rs17612648) is located in exon 4 and blocks the exon's differential splicing from the pre-mRNA,...
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