BATON ROUGE – LSU biologists Mark Batzer, Miriam Konkel and Jerilyn Walker are among the international team of scientists from the 1000 Genomes Project, who have created the most complete catalog of human genetic variants. The researchers created a map of the genomic differences of 2,504 people from 26 populations across Africa, East Asia, South Asia, Europe and the Americas.
“The ability to look at entire genomes across the globe is just amazing. It provides new insight into human biology,” said Batzer, who is a Boyd Professor and the Dr. Mary Lou Applewhite Distinguished Professor in the Department of Biological Sciences at LSU. LSU Assistant Professor Miriam Konkel and lab manager Jerilyn Walker worked with Batzer on this study.
The 1000 Genomes Project has led to a better understanding of the genetic size, diversity and history of the human population. It doubles the number of known variant sites to 88 million in the human genome. Batzer and his colleagues’ research will be published in two scientific papers in Nature on Oct. 1.
The 26 populations studied include groups such as the Esan in Nigeria; Colombians in Medellin, Colombia; Iberian populations in Spain; Han Chinese in Beijing; and Sri Lankan Tamil in the United Kingdom. All of the individuals studied for the project consented to broad release of their data, and the data can be used by researchers around the world.
Due to the highly coordinated and consistent nature of the methodology and the investigators working on this project, the results have been a uniform dataset of human genetic variation that provides a baseline from which other lines of future research can stem.
For example, it has confirmed previously debated topics such as the geographic origin of mankind. In this study, the African populations exhibited the greatest genetic diversity. The other populations had some of the genetic variants found in the African populations, which supports the theory that Africa’s population is the oldest and from which other populations dispersed around the world.
“We have a better understanding of human history and migration now,” Batzer said.
In addition to elucidating what happened in the past, this data also serves as a gateway to the future of personal genomics and individualized medicine. By better understanding the random patterns of genetic variation, the medical field may be able to identify an individual’s medical predispositions. This catalog provides the basis for a new understanding of how inherited differences in DNA can contribute to disease risk.
“The 1000 Genomes Project was an ambitious, historically significant effort that has produced a valuable resource about human genomic variation,” said Dr. Eric Green, director of the National Institutes of Health’s National Human Genome Research Institute, or NHGRI, which helped fund the project. “The latest data and insights add to a growing understanding of the patterns of variation in individuals’ genomes, and provide a foundation for gaining greater insights into the genomics of human disease.”
Batzer’s research expertise includes structural variation. Specifically he studies the segments of DNA that move and insert themselves elsewhere in the genome, which are called transposable elements, or transposons. Transposons create new insertions when they move or transpose and also generate other chromosomal alterations through genetic exchanges. These “jumping genes” are linked to many inherited human disorders and forms of cancer.
Diseases such as hemophilia, breast cancer and neurofibromatosis in which tumors form on nerve tissue, have been linked to transposable elements. One-half of one percent of all human genetic disorders come from changes in the structure of the genome involving new transposable element insertions. The researchers mapped eight classes of structural variants that potentially contribute to disease. They found nearly 69,000 differences or genetic structural variants in the study.
“I feel very fortunate to have had the opportunity to work with such a terrific group of scientists on this project. This is some of the most exciting science out there and it brings together the best investigators in the world to work on one project,” Batzer said.
Mark Batzer is a Boyd Professor and the Dr. Mary Lou Applewhite Distinguished Professor in the Department of Biological Sciences at LSU. He is available for interviews. LSU has a video uplink studio with live broadcast capabilities.
Mark Batzer’s Research Laboratory: batzerlab.lsu.edu
1000 Genomes Project: www.1000genomes.org
A global reference for human genetic variation, Nature:
An integrated map of structural variation in 2,504 human genomes, Nature:
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