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Fig. 3. | BMC Biology

Fig. 3.

From: Dosage-sensitive genes in evolution and disease

Fig. 3.

Evolutionary conservation of copy number of genes in the 16p11.2 recurrent CNV region. The genes in the 16p11.2 region are illustrated across the top, with Mbp co-ordinates indicated above and gene names below. The critical region (dashed outline) indicates a smaller CNV that exhibits the same phenotype as the larger CNV and so is considered sufficient for the syndrome. For each of the mammals, if the ortholog is duplicated it is represented by a green dot, and if not found (presumed deleted) it is represented by an orange dot. Otherwise the copy number is unchanged with respect to human. Where a given gene has 1:1 orthologs across all 13 mammals tested this is indicated by a red vertical stripe. Genes in the region that were not amenable to this analysis are indicated by greyed-out names. Copy number conservation data are from [48]. BOLA2, SLX1 and SULT1A are part of a human-specific duplication with paralogs present on both flanks of the critical region and which increased the susceptibility to NAHR [86]

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