CMT syndromes: Duplication and divergence in humans and chimpanzees

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Bioessays. 2006 Mar 17;28(4):335-338

Duplication and divergence in humans and chimpanzees.

Wooding S, Jorde LB.

Department of Human Genetics, University of Utah School of Medicine,

Salt Lake City, UT.

It has become a truism that we humans are genetically about 99%

identical to chimpanzees. The origins of this assertion are clear:

among early studies of DNA sequences, nucleotide identity between

humans and chimpanzees was found to average around 98.9%.1 However,

this figure is correct only with respect to regions of the genome

that are shared between humans and chimpanzees. Often ignored are the

many parts of their genomes that are not shared. Genomic

rearrangements, including insertions, deletions, translocations and

duplications, have long been recognized as potentially important

sources of novel genomic material and are known to account for major

genomic differences between humans and chimpanzees. Further, such

changes have been implicated in a number of genetic disorders, such

as Di, Angelman/Prader-Willi and Charcot-Marie-Tooth

syndromes.