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. 2014 Jun 19;10(6):e1004418. doi: 10.1371/journal.pgen.1004418

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© 2014 Brahmachary et al

This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are properly credited.

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(a) REXO1L1 is one of the most extreme examples of copy number variable genes in human, with 108–266 copies of the ∼12.2 kb repeat unit observed in the 165 HapMap individuals studied. However even more extreme variation is observed among different primates. We observed ∼450 and ∼550 copies in bonobo and chimpanzee, respectively, and copy numbers of ∼400 and ∼860 in two different gorilla individuals. In contrast while macaque has an estimated 22 copies, gibbon falls within the same range seen in human. (b) While TCEB3C ranges from 9–59 copies among HapMap individuals (mean 29 copies), all five species of primate studied show increased copy number, indicating a reduction of TCEB3C copy number specifically in the human lineage. As with REXO1L1, gorilla and chimpanzee showed the highest copy numbers, with 115 in chimpanzee and ∼270 copies in both gorillas studied.