Evolutionary analysis of the OTOP1-proximal locus in the human genome. (a) SDs in human (HSA), chimpanzee (PTR), orangutan (PPY), and macaque (MMU) genomes, as detected by excess of whole-genome shotgun reads (depth of coverage). Note the evidence for a ~60-kb human-specific SD containing OTOP1-like and TMEM128-like sequences (i.e., the region between the vertical red dashed lines). (b) The genomic regions in chromosomes 4 and 2 were extracted from the human assembly hg17 and aligned with Miropeats Pertinent gene annotations and ancestral duplicon composition of each duplicon (obtained from DupMasker) are also shown. Newly identified ΨOTOP1 and ΨTMEM128 belong to a single duplication event located in the pericentromeric region of human chromosome 2. The red box represents an indel that has deleted exon 4 of ΨOTOP1.
Hurle et al. BMC Evolutionary Biology 2011 11:23 doi:10.1186/1471-2148-11-23