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Is human uniqueness a matter of copy number?

Discover how segmental duplications in genome shape hominid evolution and the unique lineage of African great apes.

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A burst of segmental duplications in the genome of the African great ape ancestor:

It is generally accepted that the extent of phenotypic change between human and great apes is dissonant with the rate of molecular change...Between these two groups, proteins are virtually identical...cytogenetically there are few rearrangements that distinguish ape-human chromosomes3, and rates of single-base-pair change...and retrotransposon activity...have slowed particularly within hominid lineages when compared to rodents or monkeys. Studies of gene family evolution indicate that gene loss and gain are enriched within the primate lineage...Here, we perform a systematic analysis of duplication content of four primate genomes (macaque, orang-utan, chimpanzee and human) in an effort to understand the pattern and rates of genomic duplication during hominid evolution. We find that the ancestral branch leading to human and African great apes shows the most significant increase in duplication activity both in terms of base pairs and in terms of ...

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