Human Genome
In April 2003, scientists completed the massive Human Genome Project, recording for the first time in history the location and sequence of every gene in the human body. One result of the international project came as a bit of a shock. Scientists discovered that the body has only 30,000 genes, far fewer than the 50,000 to 140,000 they had expected to find. Moreover, scientists learned that some less complex, less diverse organisms had more, or proportionally more genes than human beings. The rice genome contains 50,000 genes and the fly 14,000, to cite two examples.
A group of researchers has re-created with remarkable accuracy part of the genome of the common ancestor of all placental mammals, a small shrew-like creature that prowled the forests of what is now Asia more than 80 million years ago. By comparing DNA sequences of 19 species of existing mammals, including humans, the researchers have reconstructed a large segment of DNA in the species from which all of today's placental mammals arose. They estimate that the reconstruction is 98 percent accurate.
Scientists have glimpsed the three-dimensional structure of a protein that protects the ends of human chromosomes, a function that is essential for normal cell division and survival. By visualizing the protein as it surrounds the end of a chromosome, the scientists have learned how the protein homes in on a specific DNA sequence and acts like a protective cap to prevent erosion of chromosome ends.
A prehistoric fish that until 1938 was thought to be extinct has caught the eye of geneticists at the Stanford University School of Medicine who hope to sequence the ancient genome to learn how animals evolved to live on land. The 5-foot, 130-pound fish in question, called the coelacanth, ekes out an existence in cool, deep-water caves off the Comoro Islands in the Indian Ocean and northern Indonesia. Its lobed fins, skeleton structure and large, round scales are practically unchanged from its fossilized ancestors.
Results of NASA scientists' recent research on human DNA are enhancing our knowledge about human genetics and may help us to better understand human diseases. Scientists at NASA Ames Research Center, located in California's Silicon Valley, in collaboration with scientists from Yale University, New Haven, Conn., designed a complete map of all gene activities in human tissue.
As part of its ongoing effort to enhance understanding of the human genome, the National Human Genome Research Institute, one of the National Institutes of Health, announced today that the Large-Scale Sequencing Research Network has received the green light to begin sequencing 18 strategically selected organisms, including the orangutan, African savannah elephant and domestic cat.
Researchers have discovered a possible inherited component for lung cancer, a disease normally associated with external causes, such as cigarette smoking. An interdisciplinary consortium consisting of 12 research institutions and universities, including the National Cancer Institute (NCI) and the National Human Genome Research Institute (NHGRI), both part of the National Institutes of Health (NIH), identified a major lung cancer susceptibility region on a segment of chromosome 6.
The first draft of the dog genome sequence has been deposited into free public databases for use by biomedical and veterinary researchers around the globe, the National Human Genome Research Institute (NHGRI), one of the National Institutes of Health (NIH), announced today.
A human protein that mutates the AIDS virus (HIV) and holds potential for keeping the disease at bay has been discovered and its function described by a team at the University of Minnesota. The new protein (called APOBEC3F) and one described previously (APOBEC3G) can directly mutate HIV. Such proteins--called retroviral restrictors--may contribute to HIV resistance in some people.
The National Human Genome Research Institute (NHGRI), part of the National Institutes of Health (NIH), today announced a partnership with the Melbourne-based Australian Genome Research Facility Ltd. (AGRF) to sequence the DNA of one of Australia's best-known animals: a member of the kangaroo family known as the tammar wallaby. ''This scientific collaboration between the United States and Australia represents another important step in our quest to gain a better understanding of the human genome,'' said NHGRI Director Francis S. Collins, M.D., Ph.D. ''As we build on the success of the Human Genome Project, it has been increasingly clear that one of the best tools for identifying crucial elements in the human genome is to compare it with the genomes of a wide variety of other animals.''
Scientists have transformed a common ''jumping gene'' found in the human genome into one that moves hundreds of times more often than normal in mouse and human cells. Writing in the May 20 issue of Nature, the scientists say their artificial jumping gene sets the stage for creating mice that lack -- at random -- at least one gene, without having to know in advance which gene is being ''knocked-out.'' Such random knock-outs have been critical in studying genetics of other critters and will help shed light on jumping genes' effects -- past and present -- in human health and disease, say the researchers.
An international research team, supported by the National Institutes of Health (NIH), today announced it has completed a high-quality, draft sequence of the genome of the laboratory rat, and has used that data to explore how the rat's genetic blueprint stacks up against those of mice and humans. In a paper published in the April 1 issue of the journal Nature, the Rat Genome Sequencing Project Consortium describes its efforts to produce and analyze a draft sequence of the Brown Norway strain of the laboratory rat (Rattus norvegicus). The project, led by the Human Genome Sequencing Center at Baylor College of Medicine in Houston, was primarily funded by the National Heart, Lung and Blood Institute (NHLBI), $58.5 million, and the National Human Genome Research Institute (NHGRI), $60 million.
International research teams studying two distinct populations have found variants in a gene that may predispose people to type 2 diabetes, the most common form of the disease. "This is an outstanding example of how scientists are using the tools of modern biology to understand the causes of our nation's most common--and most devastating--diseases," said Dr. Elias A. Zerhouni, Director of the National Institutes of Health (NIH). "As researchers continue to build upon the foundation laid by the Human Genome Project, we can expect even swifter progress in our effort to understand, treat and eventually prevent many complex conditions such as diabetes, heart disease and mental illness."
With the human genome in hand, scientists now know the roughly 30,000 words making up the language of the human body. But what do those words mean? Stuart Kim, PhD, associate professor of developmental biology and genetics at the Stanford School of Medicine, has created the first dictionary that defines them.
Researchers at the University of Pittsburgh have completed the first survey of the entire human genome for genes that affect the susceptibility of individuals to developing clinical depression. George S. Zubenko, M.D., Ph.D., professor of psychiatry at the University of Pittsburgh School of Medicine and adjunct professor of biological sciences at Carnegie Mellon University and his team have located a number of chromosomal regions they say hold the genetic keys to a variety of mental illnesses, including major depression and certain addictions. The survey was done in 81 families identified by individuals with recurrent, early-onset, major depressive disorder (RE-MDD), a severe form of depression that runs in families. The Pitt team's findings are published today in the American Journal of Medical Genetics.
