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Human Genome News Archive Edition

Human Genome News, March 1994; 5(6)

Moyzis Wins DOE Lawrence Award

Robert Moyzis, Director of the Center for Human Genome Studies at Los Alamos National Laboratory, is one of seven winners of the 1993 E. O. Lawrence Award, presented by DOE. The award, which is named for the inventor of the cyclotron, carries with it a gold medal, citation, and $10,000.

Identifying and Cloning the Telomere

Moyzis received the Lawrence Award in life sciences for distinguished contributions to the field of molecular genetics. Often using unorthodox methods, he and colleagues constructed and searched human DNA sequence libraries, finally identifying and cloning (with yeast artificial chromosome vectors) the telomere, a repeated sequence of nucleotides at the end of a DNA strand on the chromosome. After identifying the terminal repeat sequence (TTAGGG)n and finding it to be present in the telomeres of over 100 vertebrate species tested, investigators concluded that the sequence has been conserved over the last 400 million years of evolution. Such conservation of a DNA sequence suggests an important role for this "molecular fossil." In the human telomere, this sequence is repeated 250 to 1500 times, depending on cell type, with sperm chromosomes having the most repeats. Another type of repeated telomeric DNA, found adjacent to the terminal repeat, is species specific.

Although it carries no genes, telomeric DNA is critical to chromosomal replication and stability. Scientists speculate that the ability of repetitive sequences to form novel structures may be responsible for maintaining each chromosome as a separate entity and preventing shortening during replication. Telomere shortening is thought to play a role in the aging process and the onset of cancer.

Important findings from studies of repetitive telomeric sequences support the idea that sequencing the whole genome, introns (noncoding regions) as well as exons, is crucial to understanding basic biology. For example, the unusual DNA structures formed by repeated sequences (or other DNA patterns) in telomeres represent a new type of sequence-encoded information (i.e., structural) different from that of conventional base pairing elucidated 30 years ago. Sequencing the entire genome has been the ultimate goal of the genome project from its inception, although this objective has sparked criticism from those who consider the sequencing of introns unproductive.

Centromere Research

Moyzis was also cited for his ongoing explorations in identifying the functional human centromere, a region of the chromosome that plays a key role during cell division. The discovery of human chromosomeþspecific repetitive sequences located in or near the centromere led to immediate scientific and clinical applications, including diagnosis of some types of human genetic abnormalities and rapid identification of abnormal numbers of chromosomes in human cells.

Moyzis, who was also recognized for his contributions to the successful initiation of the Human Genome Project, has served on numerous committees, including the DOE Human Genome Coordinating Committee and the NIH-DOE Joint Human Genome Program Advisory Committee. Moyzis earned his bachelor's degree from Northeastern Illinois University in 1971 and his doctorate in molecular biology from Johns Hopkins University in 1978; he assumed his current position in 1989. The LANL genome center is one of 19 U.S. centers whose goals are to map the estimated 100,000 genes residing along the human chromosomes and determine the sequence of the 3 billion bases contained in the human genome.

[Denise K. Casey, HGMIS]

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Human Genome Project 1990–2003

The Human Genome Project (HGP) was an international 13-year effort, 1990 to 2003. Primary goals were to discover the complete set of human genes and make them accessible for further biological study, and determine the complete sequence of DNA bases in the human genome. See Timeline for more HGP history.

Human Genome News

Published from 1989 until 2002, this newsletter facilitated HGP communication, helped prevent duplication of research effort, and informed persons interested in genome research.