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1. Additional file 2: of Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome

Author

Dagar, Vinod, Hutchison, Wendy, Muscat, Andrea, Krishnan, Anita, Hoke, David, Buckle, Ashley, Siswara, Priscillia, Amor, David, Mann, Jeffrey, Pinner, Jason, Colley, Alison, Wilson, Meredith, Sachdev, Rani, McGillivray, George, Edwards, Matthew, Kirk, Edwin, Collins, Felicity, Jones, Kristi, Taylor, Juliet, Hayes, Ian, Thompson, Elizabeth, Barnett, Christopher, Haan, Eric, Mary-Louise Freckmann, Turner, Anne, White, Susan, Kamien, Ben, Ma, Alan, Mackenzie, Fiona, Baynam, Gareth, Kiraly-Borri, Cathy, Field, Michael, Dudding-Byth, Tracey, and Algar, Elizabeth

Subjects
urogenital system, embryonic structures, environment and public health
Abstract

Figure S1. DNMT1 sequence variants identified in BWS patients. Figure S2. Sequence traces of DNMT1 variants generated by site-directed mutagenesis. Figure S3. Expression of GFP-tagged DNMT1 proteins in HeLa cells. Figure S4. Schematic of the trapping assay adapted from Frauer and Leonhardt (2009). (PPTX 1525Â kb)

Published
2018
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2. Additional file 1: of Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome

Author

Dagar, Vinod, Hutchison, Wendy, Muscat, Andrea, Krishnan, Anita, Hoke, David, Buckle, Ashley, Siswara, Priscillia, Amor, David, Mann, Jeffrey, Pinner, Jason, Colley, Alison, Wilson, Meredith, Sachdev, Rani, McGillivray, George, Edwards, Matthew, Kirk, Edwin, Collins, Felicity, Jones, Kristi, Taylor, Juliet, Hayes, Ian, Thompson, Elizabeth, Barnett, Christopher, Haan, Eric, Mary-Louise Freckmann, Turner, Anne, White, Susan, Kamien, Ben, Ma, Alan, Mackenzie, Fiona, Baynam, Gareth, Kiraly-Borri, Cathy, Field, Michael, Dudding-Byth, Tracey, and Algar, Elizabeth

Abstract

Table S1. Methylation at non-11p15 imprinting centres in BWS cases with loss of methylation at KCNQ1OT1 TSS-DMR. Only samples with identified methylation changes are listed. Tables S2. aâ e Primers used for HRM of MTHFR, MTR, MTRR, MAT1A, CBS. Table S3. aâ e Primers used for sequencing MTHFR, MTR, MTRR, MAT1A, CBS. Table S4. aâ d. DNMT1 primers. Table S5 Pyrosequencing primers. (DOCX 226Â kb)

Published
2018
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