July 2000

Life sciences took center stage virtually around the world June 26. President Bill Clinton, flanked on the left by Celera Genomics Group president J. Craig Venter and on the right by National Human Genome Research Institute director Francis S. Collins, announced the completion of "the first survey of the entire human genome."

To translate the billions of sequenced bases of the human genome into meaningful information, investigators in the private and public sectors continue to use computer prediction to automatically annotate the human genome--to attach biological footnotes about genes, the proteins they encode, and the ailments to which they may be linked. But as with any translation, there's potential for multiple interpretations. Annotation projects could present geneticists with significantly different genome sc

If humans are 99.9 percent genetically identical, as President Bill Clinton is fond of asserting when he extols the Human Genome Project, that 10th-of-a-percent difference has a lot of explaining to do. How does genetic variation determine a person's unique physical traits? Can it predict someone's susceptibility to a disease? Such questions, pertaining to the present or future, are what occupy most human geneticists. A small group, however, studies genetic variation as a clue to the past. Som

As members of relatively small, cohesive populations, Jews have caught the attention of molecular anthropologists, much as Basques and Icelanders have. Thus, Jewish men who reported being descendants of ancient Jewish priests (Cohens) were found to display distinctive patterns of Y chromosome polymorphisms1; the common ancestor of these "Cohen" chromosomes was dated back to the Old Testament era of about 2,600 to 3,200 years.2 A clan of the Lemba, a black group in southern Africa that claims Je

©Wonderfile U.S.A. Corp. The cat could serve as a model for more than 200 human inborn genetic errors. The Canine Genome Project is big news--not as big as the Human Genome Project, but still "visible," reported on in magazines and newspapers. Ongoing research on the house cat's genome is "not so visible," says geneticist Marilyn Menotti-Raymond of the Laboratory of Genomic Diversity (LGD) of the National Cancer Institute (NCI) in Frederick, Md. But the feline research is more advanced and

In mid-April the Department of Energy (DOE) stole thunder from the National Institutes of Health when it announced the draft decoding of DNA on human chromosomes 5, 16, and 19. Containing an estimated 10,000-15,000 genes, the chromosomes constitute 300 million bases, or an estimated 11 percent of the total human genome. Genes on chromosomes 5, 16, and 19 have been linked to certain forms of kidney disease, prostate and colorectal cancer, leukemia, hypertension, diabetes, and atherosclerosis. But

The Monsanto Co., now a division of Pharmacia Corp., recently admitted that its Roundup Ready soybeans contain two extra bacterial DNA sequences derived from the original transformation event about 10 years ago. The genetically modified (GM) plants are tolerant to Monsanto's herbicide Roundup, or glyphosate, so farmers can kill bothersome weeds without harming their crop. Plants manufacture essential aromatic amino acids such as phenylalanine through the shikimic acid pathway, housed in t

The astronauts' repair of the international space station captured media attention during the space shuttle flight in May. But inside the orbiter, a life science experiment took another small step toward creating a technology that may eventually save thousands of lives around the world. The latest trial in a study ongoing for two years, the experiment involved a gene transfer in soybeans that the researchers hope will lead to edible vaccines, among other products, in the not-too-distant future.

According to biotech critics, genetically modified crops carry insidious hitchhikers in the form of antibiotic resistance genes. Activists argue that the genes could somehow move into pathogenic bacteria, rendering antibiotics ineffective and thereby eliminating an important weapon in medicine's arsenal against disease. Molecular breeders include selectable markers--conferring resistance to drugs such as kanamycin and streptomycin--with beneficial genes they introduce into pet plants such

In June, as the public and private genome projects prepared to announce the rough mapping of the human genome, a special Department of Health and Human Services (HHS) genetics ethics committee was wrapping up its own report on how the government should oversee genetic testing. In the report, sent to assistant secretary and surgeon general David Satcher, the Health and Human Services Secretary's Advisory Committee on Genetic Testing, or SACGT, recommends that the government provide additional ove

NIAID Pushes for Vaccine Development The National Institute of Allergy and Infectious Diseases (NIAID) is responding full force to President Bill Clinton's call to increase vaccine development efforts against globally important diseases such as AIDS, tuberculosis (TB), and malaria. "Vaccines are a major public health tool, so it makes sense that more public dollars should be spent on this research," says Margaret Johnston, assistant director for AIDS vaccines at NIAID. NIAID has launched four n

In his Opinion article, T.V. Rajan has written a thoughtful and accurate portrayal of what has happened to too many biomedical researchers in recent years. I agree with virtually everything he says. I am a college professor who teaches and does modest research with undergraduates. After a quarter-century, I still love science and show it, still do my own research, and still spend hours in the library reading papers to try to keep up. When my students go off in the summers to do research a

Your article "Monitoring Human Subjects and Clinical Trials"1 reports on the findings of the Health and Human Services Inspector General concerning institutional review boards and determines that "many IRBs aren't getting the job [of protecting human subjects] done." The article mentions only one researcher whose procedures were criticized recently (and then we don't hear his side). We never know what got Duke University and University of California, Los Angeles, into trouble. Was it callous or

A few days after the White House announcement that scientists had finished mapping the first working draft of the human genome (see page 1), James Watson came to Philadelphia to accept another award in his long, illustrious career. But it wasn't a science award. Philadelphia awarded Watson and Francis Crick the 2000 Liberty Medal on the 224th anniversary of the signing of the Declaration of Independence. The discoverers of the structure of DNA became the first scientists to receive the L

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Jay H. Robbins Defects in the body's DNA repair system long have been linked to skin cancer, but evidence is now emerging that similar problems play a role in Alzheimer's disease and other neurodegenerative disorders. New findings by senior investigator and medical officer Jay H. Robbins and colleagues in the dermatology branch at the National Cancer Institute (NCI) go far toward validating a hypothesis broached by Robbins a quarter-century ago. That's how long his team has been following cli

Elusive "Pingelapese Blindness" Gene Identified Before there was Survivor, the hit summer TV show, there was Pingelapese blindness, a classic example of a population bottleneck. In 1775, a typhoon devastated Pengelap, a coral atoll in the Eastern Caroline Islands in Micronesia. Of the 20 survivors, one male passed along a recessive gene for achromatopsia, and four generations later, the condition began to appear, thanks to two centuries of isolation and inevitable inbreeding. In the condition,

Courtesy of Kevin Becker Four different autoimmune diseases map to the same 10cM region on the long arm of chromosome 16. Common, complex diseases such as diabetes, asthma, and cardiovascular conditions are the next challenge gene hunters face. These researchers have successfully identified many rare Mendelian disorders that are caused by mutations in one gene. But common diseases are difficult to study because they don't segregate in a Mendelian fashion. Although common diseases tend to cluster

For this article, Jennifer Fisher Wilson interviewed Eric S. Lander, professor of biology and director of the Whitehead/Massachusetts Institute of Technology Center for Genome Research. Data from the Web of Science (ISI, Philadelphia) show that the Hot Papers are cited 50 to 100 times more often than the average paper of the same type and age. D.G. Wang, J.B. Fan, C.J. Siao, A. Berno, P. Young, R. Sapolsky, G. Ghandour, N. Perkins, E. Winchester, J. Spencer, L. Kruglyak, L. Stein, L. Hsie, T

For this article, Jennifer Fisher Wilson interviewed Panagiotis Deloukas, senior group leader at the department of human genetics at Sanger Centre Wellcome Trust Genome Campus in Cambridge, England. Data from the Web of Science (ISI, Philadelphia) show that the Hot Papers are cited 50 to 100 times more often than the average paper of the same type and age. P. Deloukas, G.D. Schuler, G. Gyapay, E.M. Beasley, C. Soderlund, P. Rodriguez-Tome, L. Hui, T.C. Matise, K.B. McKusick, J.S. Beckmann, S.

The standard approach for extraction of poly(A)+ RNA from cell lysates is by oligo(dT) cellulose affinity chromatography. However, recent advances in peptide nucleic acid chemistry have produced another method for poly(A)+ RNA extraction. This novel technology uses phosphono-peptide nucleic acids (pPNA). These molecules are similar to DNA except A, T, G, or C bases are covalently attached to an N-(2-aminoethyl) glycine backbone.1 Water-soluble pPNAs hybridize to both DNA and RNA but are not degr

Fluorescence in situ hybridization (FISH) has long been used to detect specific nucleic acid sequences in paraffin-embedded tissue sections. However, using fluorescent detection requires specialized training and expensive fluorescence microscopes. Zymed Laboratories Inc. of San Francisco has introduced the SP•T-Light™ line of chromogenic ISH (CISH) products based on its proprietary Subtractive Probe Technology (SPT™). These products provide researchers with probes and detection

Induced cellular events distinguished by LumiTech's ApoGlow assay Apoptosis is an organized, energy-dependent process involving a number of well-defined pathways that lead to the death of a cell. Ultimately, these pathways converge on the mitochondria, causing changes in mitochondrial transmembrane potential that perturb cellular ADP:ATP ratios. Scientists at LumiTech Ltd. of Nottingham, United Kingdom, have shown that distinctive changes in the ADP:ATP ratio occur during cellular apoptosis and

Products & Services for Knockout Gene Technology Gene Knockout/Targeting Information Resources A few years ago, a scholarly scientific society published an anecdote in its monthly newsletter that described the different approaches to scientific discovery taken by geneticists and biochemists. In the story, a geneticist and a biochemist are on a hill overlooking an auto manufacturing plant, observing parts and workers going into one end of the plant and a finished product moving out of the othe

Photodisc Although President Bill Clinton surely had something in mind during his 2000 State of the Union address when he asked the nation to "celebrate our diversity," insights into human diversity at the molecular level are promising to speed drug discovery and revolutionize medicine to mark- edly improve human health. Individuals differ at one in 1,000 base pairs, which adds up to a whopping number of human genetic variations when applied to the roughly three billion base pairs of the human g

Brian Zambrowicz Now that the human genome has been sequenced to a rough draft, the scientific community is looking down the road to what's next. Last month's announcement (see page 1) spotlights a nascent area of science called functional genomics. Making sense of the sequence in terms of gene function will provide research fodder--and jobs--for the years to come. "Functional genomics is everything after the sequencing studies are finished," remarks Ruben Abagyan, director of computation

Once the world had a single language and not too many words, but then clarity deteriorated into clamor. Today in the small but prolific world of bioinformatics, another Tower of Babel is rising up, with the miscommunication due as much to the rapid expansion of information as to basic changes in how it is processed. "Horrible problems" crop up as more information is computed on instead of read by a human researcher, according to Ewan Birney, a group leader in the Ensembl genome annotation projec

Flush with an $80 million gift from an anonymous donor, three New York institutions are creating a joint biology program emphasizing chemistry, computation, and cancer. The institutions, which together will contribute another $80 million, are Cornell University (including its Weill Medical College), Memorial Sloan-Kettering Cancer Center (MSKCC), and Rockefeller University. Officials announced the Tri-Institutional Research Program announced on June 27 at a ceremony capped by a kiss between brot

Illustration: A. Canamucio I knew, back in March, that I was taking a gamble. The fourth edition of my human genetics textbook would be published in July, and judging from the rate of genomes being sequenced, it looked like Homo sapiens might join the list come summer. Unless the new edition assumed that the project was completed, my book would be obsolete before it was printed. So I E-mailed the great and powerful J. Craig Venter, president of Celera Genomics Group in Rockville, Md., to ask ab