Scientists have discovered a gene enhancer, known as HACNS1, that may have contributed to the evolution of the uniquely opposable human thumb, and possibly also modifications in the ankle or foot that allow humans to walk on two legs, according to a paper published in Science on Sept. 5, 2008.
This study is the first to provide evidence of the existence of human-specific gene enhancers, which are switches near genes in the human genome.
Dr. Shyam Prabhakar, first author of the paper and Senior Research Scientist at the Genome Institute of Singapore (GIS), said, "Opposable thumbs, manual dexterity and ankle or foot adaptations for walking on two legs are hallmarks of our species. We think we may have discovered one of the pieces of the genome that encodes some of these definitive human traits.
"This is just the first step we need to characterize HACNS1 in more detail, and also test the hundreds of other HACNSs we have identified in the genome to figure out what role, if any, they play in making us human," he added.
The opposability of the human thumb is its unique ability to swing toward the palm and oppose the other four fingers to provide a tighter and more precise grip on objects.
The surprising complexity and abundance of enhancers, which turn on genes in the appropriate cells, have only recently been appreciated. Evolutionary changes in the DNA sequence of enhancers are thought to have triggered changes in human development that make us different from chimpanzees and other apes. Thus, the many observable differences between humans and chimpanzees, such as brain size, hair density, tooth patterns, pelvic structure and hand and foot modifications, could have arisen partly through changes in the way developmental genes are turned on.
The discovery provides significant insights into the genetic differences between humans and chimpanzees the species that is approximately 99 percent similar to hu
|Contact: Cathy Yarbrough|
Agency for Science, Technology and Research (A*STAR), Singapore