Scientists Map Genes on Chromosome 1

It's the biggest chromosome humans have, and source of many disease-linked mutations

WEDNESDAY, May 17, 2006 (HealthDay News) -- A team of American and British scientists say they've completed a genetic map of human chromosome 1, the single largest unit of genetic material in the human genome.

It's also the last of the 23 human chromosomes to be mapped. The effort involved more than 150 scientists and took about 10 years. Their findings appear in the May 18 issue of Nature.

Chromosome 1 makes up about 8 percent of the overall human genome, and contains about twice as many genes (3,141) as an average-sized chromosome. A thousand of the genes in chromosome 1 have never before been identified, the scientists said.

The chromosome plays a major role in health and well-being. Genetic mutations of chromosome 1 have been linked to more than 350 human diseases and structural alterations. Chromosome 1 genes are believed to play a role in a number of mental retardation syndromes.

"This achievement effectively closes the book on an important volume of the Human Genome Project, which was started in 1990 to identify the genes and DNA sequences that provide a 'blueprint' for human beings," lead investigator Simon G. Gregory, an assistant professor, Duke University Center for Human Genetics, said in a prepared statement.

"Armed with this new information, researchers now have new tools for probing fundamental biological questions and examining the genetic factors involved in a range of diseases and medical conditions, including Alzheimer's disease, Parkinson's disease, cancer, autism and mental retardation," Gregory said.

More information

The U.S. National Institutes of Health has more about the Human Genome Project.

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