The DMPK Gene of Severely Affected Myotonic Dystrophy Patients Is Hypermethylated Proximal to the Largely Expanded CTG Repeat Peter Steinbach, Dieter.

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The DMPK Gene of Severely Affected Myotonic Dystrophy Patients Is Hypermethylated Proximal to the Largely Expanded CTG Repeat Peter Steinbach, Dieter Gläser, Walther Vogel, Michael Wolf, Sabine Schwemmle The American Journal of Human Genetics Volume 62, Issue 2, Pages 278-285 (February 1998) DOI: 10.1086/301711 Copyright © 1998 The American Society of Human Genetics Terms and Conditions

Figure 1 Schematic presentation of the DMPK gene structure and of the genomic region investigated (nt 1–1775). a, Exon-intron boundaries. b, CpG dinucleotide distribution. c, Sites of restriction enzymes in 5′ region of the CTG repeat. B = BamHI; H = HindIII; SI = SacI; SII = SacII: ⊥ = HhaI; and ⊤ = HpaII. In this scheme, the the first nucleotide corresponds to nt 12634 of the published sequence (Mahadevan et al. 1993). The American Journal of Human Genetics 1998 62, 278-285DOI: (10.1086/301711) Copyright © 1998 The American Society of Human Genetics Terms and Conditions

Figure 2 Southern blot analysis of DNAs from a normal individual (a, lanes 1–3) from DM patients with early- or late-adult onset (a, lanes 4–9; b, lanes 1–3), and from DM patients with congenital onset (b, lanes 4–6; c, lanes 1–6). The DNAs were digested with SacI + HindIII (a, lanes 1, 4, and 7; b, lane 4; c, lanes 1 and 4), with SacI + HindIII + SacII (a, lanes 2, 5, and 8), or with SacI + HindIII + HhaI (a, lanes 3, 6, and 9; b, lane 6; c, lanes 3 and 6) and were hybridized to probe pM10M6. The patients' identifiers (see table 1) are as follows: 3953 (a, 4–6), 3954 (a, 7–9), 4148 (b, 1–3), 4211 (b, 4–6), P57F (c, 1–3), and 1496 (c, 4–6). With the exception of P57F, all the DNA samples were isolated from white blood cells. P57F is a cell line from a fetus suspected to have congenital DM. The American Journal of Human Genetics 1998 62, 278-285DOI: (10.1086/301711) Copyright © 1998 The American Society of Human Genetics Terms and Conditions

Figure 3 In vivo footprint analysis showing the Sp1 consensus binding site at position 13149–13156 in the published genomic sequence (Mahadevan et al. 1993). Lane 1, Fibroblasts of a DM fetus (P57F) with hypermethylated disease allele. Lane 2, Fibroblasts of a normal control individual. G = visible G residue; (G) = protected G residue. The American Journal of Human Genetics 1998 62, 278-285DOI: (10.1086/301711) Copyright © 1998 The American Society of Human Genetics Terms and Conditions