Results of two human genome studies published this week in leading science journals provide "a new perspective on being human," says David Haymer, chairman of the University of Hawaii Department of Genetics and Molecular Biology. Genome studies
providing new perspective
on being humanBy Helen Altonn
Star-BulletinOne surprise, he said, is that humans have only 25,000 to 30,000 different genes rather than 50,000 to 100,000 as people guessed in the past.
The significance of this isn't clear. "Just finding these genes is not the whole story," Haymer said. "The rest of the story will be understanding what these genes will do for us."
Gene mapping by a government consortium spearheaded by the National Human Genome Research Institute appeared in Nature. Findings of Celera Genomics, a private company in Rockville, Md., were published in Science.
Researchers who mapped the human genome said each gene may be responsible for several different proteins. So they will have to learn about hundreds of thousands of different proteins instead of 30,000 or so genes.
Haymer said researchers in his department and the medical school in general, as well as other UH research units, are pursuing studies related to the genome map. It will provide a baseline of information toward ultimately understanding human disease and developing new treatments and drug therapies, he said.
Researchers Haymer's laboratory are interested in how individuals vary in genetic makeup, studying genetic variations in human and insect populations with the same tools. The human genome map involves a massive amount of information. "We need pretty sophisticated tools to even be able to access and utilize the data," Haymer said. "But, definitely, people here will be taking advantage of that."
Among them is Rebecca Cann, genetics and molecular biology professor known for work in tracing human origins by looking at a piece of DNA known as mitochondrial. Mitochondrial chromosomes are inherited from the mother.
Cann wrote an essay for the genome mission for Science entitled, "Retracing the Past from the Present." It's about genetic signatures of dispersal and the human population and how new DNA sequences will provide a better picture of the history of human species, she said in an interview.
"Genome is a gold mine for people interested in human migration and human diversity," she said. "What we have is the ability to do a planetary reconstruction of our history as a species, and that's really been impossible in the past."
Before, it could be done with one gene at a time, she said. "Now we have the ability to look at hundreds of genes in hundreds of people at the same time."
Aside from medical issues, Cann said, "Most of us hope this also will lead to a personalized view between a doctor and a patient about diagnosis for disease and what risk factors we have for many important health problems, ranging from obesity to mental illness, to substance abuse to ability to get a heart attack at age 30."
Cann said a lot of her work involves describing dispersal of people from Africa, through the Middle East into Europe, Southeast Asia, then into America. Now, she's looking at settlement of Polynesia and diversity of the Pacific.
She's using information from the genome, not just to connect Polynesian islands and look at their lineages, but to differentiate between the first colonization and post-settlement contract because of voyaging.
"The first thing we did was work on genes only transmitted from a female," she said, noting if DNA sequences and family trees are reconstructed, two patterns emerge.
"Women get on voyaging canoes and reach a homeland that becomes settled, and it looks like men go back and pick up what they want." In doing that, men mate with women in other places and populations get mixed, she said.