Analysis of MEFV exon methylation and expression patterns in familial Mediterranean fever

Kirectepe, Asli; Kasapcopur, Özgür; Arisoy, Nil; Erdem, Gokce; Hatemi, Gulen; Ozdogan, Huri; Turanli, Eda

doi:10.1186/1471-2350-12-105

Analysis of MEFV exon methylation and expression patterns in familial Mediterranean fever

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Kirectepe A. K., Kasapcopur O., Arisoy N., Erdem G. C., Hatemi G., Ozdogan H., ...More

BMC MEDICAL GENETICS, vol.12, 2011 (SCI-Expanded)

Publication Type: Article / Article
Volume: 12
Publication Date: 2011
Doi Number: 10.1186/1471-2350-12-105
Journal Name: BMC MEDICAL GENETICS
Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Istanbul University Affiliated: Yes

Abstract

Background: MEFV mutations and decreased expression level of the gene are related to FMF pathology. DNA methylation at CpG islands is a well-known mechanism for transcriptional silencing. MEFV has a CpG island, spanning a part of the first intron and the whole of the second exon of the gene covering 998 bp region. Here, we tested the hypothesis that the MEFV transcript level in FMF patients correlates with its methylation level, and methylation, by allowing transcription silencing, has a role in FMF ethiopathogenesis.