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| Erdem,Gokce Celikyapi; Erdemir,Sule; Abaci,Irem; Aydin,Asli K. Kirectepe; Everest,Elif; Turanli,Eda Tahir. |
| Abstract The function of gene body DNA methylation in alternative splicing, and its relation to disease pathogenesis is not fully elucidated. The gene for familial Mediterranean fever (MEFV) encodes the pyrin protein and contains a 998 bp CpG island, covering the second exon, which is differentially methylated in FMF patients compared to healthy controls. Our further observation of increased exon 2-spliced MEFV transcript in leukocytes of FMF patients provoked us to test the role of exon methylation in alternative splicing using inflammatory cell culture models. First, in vitro exon methylation triggered an increased level of exon 2 exclusion using a splicing cassette in a promyelocytic leukemia cell line (HL-60). HL-60 cells subjected to methylating and... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Exon methylation; MEFV; Pyrin; Alternative splicing; Inflammation. |
| Ano: 2017 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572017000400688 |
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