Array-based DNA methylation profiling in male infertility reveals allele-specific DNA methylation in PIWIL1 and PIWIL2 Carolin Friemel, Ole Ammerpohl,

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Presentation transcript:

Array-based DNA methylation profiling in male infertility reveals allele-specific DNA methylation in PIWIL1 and PIWIL2 Carolin Friemel, Ole Ammerpohl, Ph.D., Jana Gutwein, Dipl. Biol., Andreas G. Schmutzler, M.D., Almuth Caliebe, M.D., Monika Kautza, M.D., Sören von Otte, M.D., Reiner Siebert, M.D., Susanne Bens, M.D. Fertility and Sterility Volume 101, Issue 4, Pages 1097-1103.e1 (April 2014) DOI: 10.1016/j.fertnstert.2013.12.054 Copyright © 2014 American Society for Reproductive Medicine Terms and Conditions

Figure 1 Hierarchical cluster analysis (A) and principal component analysis (B) of avg. beta values of the identified 492 loci. (A) Clustering was performed applying weighted average. In the heatmap low relative DNA methylation values are represented in blue, high values are shown in yellow. For presentation methylation values of CpG loci were normalized (mean = 0, variance = 1). Upper part of horizontal bars: orange: fertile control cohort, blue: azoospermia, yellow: cryptospermia, red: oligoasthenoteratozoospermia (OAT), pink: OAT III, black: OAT II, green: asthenozoospermia. Lower part of horizontal bars: green: fertile cohort, red: infertile cohort. (B) Green spheres indicate individuals of the fertile control cohort, red spheres indicate individuals of the infertile patients cohort. Fertility and Sterility 2014 101, 1097-1103.e1DOI: (10.1016/j.fertnstert.2013.12.054) Copyright © 2014 American Society for Reproductive Medicine Terms and Conditions

Figure 2 Graphical display of the avg. beta values of (A) cg12122741 (corresponding to rs10773767, PIWIL1) and (B) cg05956943 (corresponding to rs6982089, PIWIL2) in the fertile (controls) and infertile study cohort. Fertility and Sterility 2014 101, 1097-1103.e1DOI: (10.1016/j.fertnstert.2013.12.054) Copyright © 2014 American Society for Reproductive Medicine Terms and Conditions

Supplemental Figure 1 Bisulfite pyrosequencing of the C-allele of rs6982089 was performed in a subset of infertile patients (n = 20) and controls (n = 8). Full methylation of the C-allele was observed in heterozygous (het) and homozygous (homo) infertile patients and controls. Methylated DNA (mean of three measurements) and whole genome amplified DNA (unmethylated DNA) served as technical controls. Please note, that in contrast to the array-based method only the C-allele was selectively analyzed. Fertility and Sterility 2014 101, 1097-1103.e1DOI: (10.1016/j.fertnstert.2013.12.054) Copyright © 2014 American Society for Reproductive Medicine Terms and Conditions