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Fig. 3 | Genome Biology

Fig. 3

From: An evolutionary driver of interspersed segmental duplications in primates

Fig. 3

Phylogeny and sequence composition of LCR16a duplication blocks. a Phylogenetic analysis of LCR16a copies in the marmoset lineage. The size and complexity of the mosaic LCR16a duplications are depicted by colored duplication blocks adjacent to each node (refer to Additional file 2: Table S4 for individual duplicon map locations). Map locations for the duplication blocks are depicted against the GRCh38 reference assembly. The LCR16a core element is shown as dashed lines. Nodes with < 90% bootstrap support are indicated by stars. Phylogenetic analysis reveals two distinct clades in marmoset, one mapping to chromosome 16 (group 1), the other mapping to chromosome 11 (group 2). Duplications with similar block architectures cluster together and the two clades suggest multiple independent events in marmoset. b Phylogenetic sites of recurrent LCR16a duplication in the orangutan and human lineages. The duplication blocks are numbered according to genomic location of a locus in the chromosome, and block coordinates correspond to the GRCh38 reference assembly. Phylogenetic analysis predicts two distinct clades depicting the independent origins of human and orangutan LCR16a duplications. Regions of recurrent microdeletion/microduplication associated with intellectual disability and autism in humans are highlighted in gray. Nodes with < 90% bootstrap support are indicated by stars

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