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Human Imprinted Chromosomal Regions Are Historical Hot-Spots of Recombination

Figure 2

Distribution of Recombination Events at Human 11p15.5 Imprinted Cluster

Positions of markers used for mapping recombinants in this region are indicated in Mb from the telomeric end (Tel) of the short arm. Imprinted genes are shown on the left side of the figure. Arrows correspond to direction and parental-specific origin of transcription: blue are paternally transcribed genes, red are maternally expressed genes, and black are genes with biallelic expression or unknown imprinting status. The two known germline imprints at this locus are shown by colored oval shapes on the left side of the figure: the blue oval corresponds to the paternally methylated IGF2/H19 DMR and the red oval corresponds to the maternally methylated KCNQ1OT1 DMR. Each vertical bar on the right side of the figure corresponds to a meiotic recombination event, delimitated by the nearest informative markers: Labeled in blue are crossovers in paternal meiosis, and labeled in red are recombinations in maternal meiosis.

An asterisk (*) represents an unidentified polymorphism found at MUC5B locus, and double asterisks (**) indicate an unidentified TaqI polymorphism found at TH locus (genotypes available through CEPH database—see Materials and Methods).

Figure 2

doi: https://doi.org/10.1371/journal.pgen.0020101.g002