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Wrapping up Chromosomes 2 and 4, Researchers Find Largest Gene Deserts in Human Genome

NEW YORK, April 6 (GenomeWeb News) - After analyzing chromosomes 2 and 4, a research consortium supported by the National Human Genome Research Institute announced this week that it has discovered the largest "gene deserts" in the human genome, and determined the location of an ancestral chromosomal fusion event.

Led by researchers at Washington University School of Medicine in St. Louis, the analysis, to be published in the April 7 issue of Nature, shows that the largest gene deserts, or regions of the genome devoid of protein-coding genes, are located in chromosome 4.

According to a statement released by NHGRI, little is known of the function of gene deserts, but they are thought to be important as they occur in other mammalian genomes as well as in birds.

NHGRI said that chromosome 4 is of interest to the medical community because it holds the gene for Huntington's disease and other inherited disorders.

The team also discovered a 36,000-base-pair stretch of sequence in chromosome 2 that it believes is the site of the fusion that created chromosome 2 from what were previously two separate, smaller chromosomes.

Chromosome 2 is the second largest human chromosome, and scientists have speculated that a fusion of two chromosomes in a human ancestor rendered humans with 23 chromosomes, compared to the 24 chromosomes found in gorillas, orangutans, chimpanzees, and other great apes, NHGRI said.

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