Map of human genes represents step toward fighting disease

University Park, Pa. -- A detailed functional map of more than 20,000 human genes will be published April 20 by an international consortium of 152 scientists from 40 institutions worldwide, including a group at Penn State lead by Wojciech Makalowski, associate professor of biology.

The study, which establishes a connection between the functions of genes and their products and the clinical effects that each of them has upon human health, is expected to set the standard for analysis of gene expression and human diseases worldwide. The map is expected to be a boon for geneticists, drug researchers, and genome and proteome scientists.

"By relating intermediate gene products called messenger RNAs to each of their parent genes, and by exhaustively connecting them to the relevant proteins, the consortium has made a unique contribution in establishing a truly reliable systematic network of human-curated relationships between genes and their biological functions," the consortium members report.

Although the announcement of the human genome sequence three years ago was widely hailed as one of the great scientific achievements in modern history, it was just a first step in the monumental task of ascribing biological meaning to the genome. The team's results, known as the "H-Invitational" database, includes evidence for several thousands of newly discovered genes as well as information about their expression and genetic variation.

The new database will be made available on the Web today (April 20) at https://www.jbirc.aist.go.jp/hinv/index.jsp

The study also will be reported in the open access journal Public Library of Science Biology.

Takashi Gojobori of the Japan Biological Information Research Centre in Tokyo and the DNA Data Bank of Japan at the National Institute of Genetics, is the leader of the international consortium, which produced its functional map of human genes by using high-quality full-length gene transcripts from publicly available resources.

The Penn State team led by Makalowski was primarily responsible for the evolutionary analysis of the full complement of genes known to be active in the human genome, called its trascriptome. The team also used bioinformatics techniques to contribute information about the functions of the genes.

"We are confident that anyone in academia or industry who uses our database will gain far deeper insight into the meaning of human disease than was previously possible," stated Gojobori. "We will soon expand this work through a Disease Edition of the consortium."

The work builds on the scientific traditions of international cooperation and large-scale collaboration, which have played an important part in the deciphering of the human genome sequence itself. The consortium members met on several occasions for scientific meetings and workshops around the world, and also for two large annotation jamborees that were held in Tokyo in 2002 and in 2003. The consortium is made up of scientists from developed as well as developing nations, including Australia, Brazil, China, France, Germany, Japan, South Africa, South Korea, Sweden, Switzerland, the United Kingdom and the United States.