MOESM1 of Application of recombinant TAF3 PHD domain instead of anti-H3K4me3 antibody

Additional file 1. Supplementary figures and table

MOESM1 of Application of dual reading domains as novel reagents in chromatin biology reveals a new H3K9me3 and H3K36me2/3 bivalent chromatin state

Additional file 1: Figure S1. Analysis of the coexistence of H3K9me3 and H3K36me2/3 in one H3 molecule by mass spectrometry. Figure S2. Control experiments related to Fig. 2. Figure S3. Quality control of double peptide spot arrays. Figure S4. Definition of chromatin states in HepG2 cells based on H3K9me3 and H3K36me2/3 CIDOP-seq signals using 1 kb bins. Figure S5. Definition of chromatin states based on Ernst et al. 2011. Figure S6. Annotated sequence of the D3PWWP-M8Chromo double domain. Table S1. GO analysis of low expression gene clusters shown in Fig. 6c. Table S2. GO analysis of the clusters of genes regulated by weak enhancers-2 shown in Fig. 7b. Table S3. GO analysis of the clusters of genes regulated by strong enhancers-2 shown in Fig. 7c. Table S4. Sequences of primers used in Fig. 5 for CIDOP-qPCR. Table S5. Sequences of primers used in Fig. 8b for CIDOP-qPCR

Presentation1.PDF

<p>Exome sequencing can interrogate thousands of genes simultaneously and it is becoming a first line diagnostic tool in genomic medicine. Herein, we applied trio clinical exome sequencing (CES) in a patient presenting with undiagnosed skeletal disorder, minor facial abnormalities, and kidney hypoplasia; her parents were asymptomatic. Testing the proband and her parents led to the identification of a de novo mutation c.188C>T (p.Pro63Leu) in the MAFB gene, which is known to cause multicentric carpotarsal osteolysis syndrome (MCTO). The c.188C>T mutation lies in a hotspot amino acid stretch within the transactivation domain of MAFB, which is a negative regulator of RANKL-induced osteoclastogenesis. MCTO is an extremely rare autosomal dominant (AD) disorder that typically arises spontaneously and causes carpotarsal osteolysis, often followed by nephropathy. To the best of our knowledge, this is the first study reporting genetically diagnosed MCTO in the Balkans.</p