The Feb. 15 and Feb. 16 issues of Nature and Science, respectively, contain detailed maps of the human genome, the genetic blueprint for constructing a human being, contained in the 6 feet of DNA coiled within the nucleus of every cell. The determination of the genetic code is being called the greatest scientific achievement since Einstein published his theory of relativity.
It should be pointed out that the reason two major scientific journals published the genome at the same time has significant implications. Science published the results of Celera Genomics, a biotech company located in Maryland, while the Nature article comes from a consortium of public research groups known as the International Human Genome Sequencing Consortium.
Down the road, thorny legal questions of whether genome data should be free to all researchers, or if parts of it may be privately owned and companies allowed to charge for its use, will have to be answered. But, regardless of how the legal tangles are resolved, the determination of the genome will change forever how humans view each other and the world about them.
Human genetic material is contained in about 100,000 genes that make up the 23 pairs of chromosomes. The genes, in turn, are made up of four subunits, called organic bases, which occur as more than 3 billion base pairs. It turns out that this description, one to be found in most standard biology texts, is far off the mark in one respect. Rather than the 100,000 genes confidently predicted, it turns out that the human genome contains only about one-third that number with estimates between 27,000 and 40,000.
In the Feb. 17 issue of New Scientist, Joanna Marchant says this is only five times as many as a bacteria, a third more than a worm, and about twice as many as a fly. When it comes to chimpanzees, only 1 percent of our DNA, or one base pair out of a hundred, separates us.
Another widely held belief that has gone by the board is that there is any significant genetic difference between the races. It turns out that genetic variations found around the world are simply small changes from the basic African sequence. “We are all Africans,” says Svante Paabo of Germany’s Max Planck Institute, who hopes that the knowledge will help foster an era of compassion.
Elucidation of the genome has raised as many questions as it has answered. How do complex humans get by with only twice as many genes as is possessed by a fly? Richard Myers of Stanford University says it is not the number of genes but how they work that counts. He believes that a single human gene must be able to make more than one protein by splicing segments of protein together in different ways to make muscle in one case, brain in another, and so forth.
This may be the case, but other perplexing facts besides the small number of genes have come to light about the genome. It turns out that a large chunk of our DNA was directly acquired from ancient bacteria in the far distant past. According to an article in the Feb. 17 issue of Science News, more than 200 of our genes came from bacteria that infected some ancient ancestor.
It also turns out, according to Science, that no more than 1.5 percent of the genome actually codes for protein production. Nearly 50 percent of the genome consists of long strands of noncoding, so-called “junk” DNA. Another commonly found bit of DNA are the transposons, that seem to have no clear purpose other than to make copies of themselves while jumping from one point to another on the genome. They do have the effect of mixing up existing genes and creating new ones. At least 28 transposon-created genes have been found during the genome project.
This strange behavior may be connected to another puzzle, involving the swapping of pieces of DNA between chromosomes, that seems to be partially sex-driven although no one knows quite why. Chromosome 12 in men and 16 in women are very active in these swaps while others remain stable. Geneticists admit that many more years of research are needed before these, and other puzzling aspects of the genome, are understood.
Despite its many complexities, unraveling the genome may prove easier than untangling the legal, medical, ethical and even religious questions that come with its elucidation. Can genes be patented? Do patients or medical researchers own the commercial rights to drugs made from their genetic material? What privacy safeguards need to be in place? And, most fundamental of all, what does knowledge of the genome do to our view of what it means to be human? Next week will be devoted to a brief look at these issues new to our experience.
Clair Wood taught chemistry and physics for more than 10 years at Eastern Maine Technical College in Bangor.
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