Proposal for a Human Genome Evolution Project

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Department or Administrative Unit

Primate Behavior and Ecology

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What is the genetic basis for the unique features of human anatomy, physiology, and behavior? The technology to answer that fundamental question exists, but there is currently no formal program for organizing and coordinating research on that topic.

The worldwide Human Genome Project will soon provide a complete reference sequence for the human genome and will ultimately produce encyclopedic information on the expression of human genes in health and disease. The Human Genome Diversity Project will accumulate extensive data on genetic variation in diverse human populations. Comparison of the data from those two projects will help to identify regions of the human genome that are common to all humans, likely to be greater than 99%. However, neither of the current genome projects specifically addresses the fundamental question of which genes are responsible for the unique features of our anatomy (e.g., bipedal locomotion and large brain), physiology (e.g., susceptibility to AIDS), and behavior (e.g., speech, higher order cognitive functions).

Most human genes will have orthologous counter-parts in other animals. Comparison of the human genome with that of a distantly related mammal such as the mouse is essential, especially for functional studies, but it will not allow us to pinpoint the small subset of human genes and/or controlling elements responsible for human-specific physiology, anatomy,and behavior. Only comparative sequence data from primates, especially our closest relatives, the common chimpanzee (Pan troglodytes) and the bonobo (Pan paniscus, alias pygmy chimpanzee), will permit us to identify genes coding for phenotypic aspects and behaviors specific to humans. Without that information, the overall goals of the Human Genome Project cannot be fully met.


This article was originally published in Molecular Phylogenetics and Evolution. The full-text article from the publisher can be found here.

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Molecular Phylogenetics and Evolution


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