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The Present and The Promise (2)
Title: Initial sequencing and analysis of the human genome
Author: International Human Genome Sequencing Consortium
Source: Nature 409:860-921 (February) 2001
Summary: In this article, researchers report the results of a collaboration involving 20 groups from the US, the United Kingdom, Japan, France, Germany and China to produce a draft sequence of the human genome. The draft genome sequence was generated from a physical map covering more than 96% of the euchromatic part of the human genome and, together with additional sequence in public databases, it covers about 94% of the human genome.

Researchers discovered that a human has only about 30,000-40,000 protein-coding genes, tens of thousands fewer than scientists had expected and only about twice as many as in worm or fly. However, the genes are more complex. This is the first time anyone has been able to count the number of human genes. It was also of great interest that about 50% of the human genome once dismissed as junk DNA has a purpose: It is the historical genetic record of our evolution, and may contain the material that triggers future evolution.

Other discoveries found in the genome include:
… Humans apparently share with bacteria some genes for critical functions such as enzyme production or metabolic functions. But no creature in between seems to have the same genes. We may have picked up the genes via bacterial infection. One of those genes regulates MASO, an enzyme key in mental illness.
… There are so few human genes that the popular theory that "we are our genes" may not be the case. "If there was a gene for criminality and a gene for sexual orientation and a gene for intelligence, for example, then we'd have to have a lot of genes," said J. Craig Venter, president of Celera Genomics. "It's wonderful evidence that we're not hard-wired."
… Barely 300 of the 30,000 or so human genes code for proteins.
… The map of the human genome has already led to faster discoveries of disease genes (19 in 2000 vs. 5 in 1999).

Dr. Francis Collins, director of the National Human Genome Research Institute, commented that his favorite metaphor during the mapping process was to refer to the human genome as the "Book of Life." "As it turns out," he said, "it is three books: a history book, a shop manual and a medical textbook -- all of them written in a language that's very hard to understand."