Fig. 1.

Allelic methylation of the L3MBTL gene. (A) Locus of the L3MBTL gene and intron/exon structure of its 5′ and 3′ regions. Coding and noncoding exons are shown in black and gray boxes, respectively. Bent arrows indicate two putative promoters. Patterned horizontal bars represent the four CpG islands. Asterisks indicate the locations of SNPs used in the study, and primers spanning the respective SNPs are indicated (P1-P8). (B) Methylation analysis of the CpG island 3 by using SSCP. Lane 1, universally methylated genomic control DNA; lanes 2-5, normal bone marrow; lanes 6-9, normal granulocytes; lanes 10-13, granulocytes from patients, with an acquired 20q deletion. (C) Bisulfite sequencing of CpG island 3. Sequences relate to samples corresponding to individual lanes from B, as indicated. Underlined thymidines (T) are those converted from cytosines.