Akademik Veri Yönetim Sistemi
13th Balkan Congress of Human Genetics, Edirne, Türkiye, 17 - 20 Nisan 2019, sa.62, ss.98
Introduction N6-methyladenosine (m6A) is the most abundant RNA modification which is found in mRNAs
and known to effect splicing, stability and translational efficiency of mRNAs. Methylation and demethylation
of adenine is catalyzed by specific type of enzymes. When methylated, adenine (m6A) can be recognized by a
specific group of proteins with YT521-B homology (YTH) domain. Binding of YTH-domain protein leads to
downstream events which result in differential expression of the gene. N6-methylation targets the adenine
residues which are located in a consensus sequence characterized by DRACH motif, and some SNPs (m6ASNP)
may cause loss or gain of this motif. In our department, we use Sanger sequencing for the diagnosis of
more than 400 single-gene diseases. In addition to disease causing mutation, we identify numerous novel
variants, which may play modifier role in disease phenotype. To investigate whether these novel variants may
cause loss or gain of DRACH motif, we have retrospectively evaluated variants found in our patients. Material
and methods For known m6A-SNPs, we used databases. Scoring loss or gain of DRACH motif in the presence
of each variant found in our patients was performed with Python3.6. Results From databases, we exported more
than 280.000 m6A-SNPs. In approximately 2.000 of our patients analyzed to date, we have found 1290 known
SNPs. None of these SNPs was included in m6A-SNP dataset. Investigation of novel variations which is still in
progress will be presented. Discussion This ongoing study is expected to help explaining the clinical
heterogeneity of some set of our patients.