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Human chromosomes 2, 4 include gene deserts, signs of chimp chromosome merger

The first detailed studies of two of the largest human chromosomes have revealed enormous gene "deserts" lacking any protein-coding sequences and relics of the merger of two ape chromosomes to form a single human chromosome.

Scientists from the Genome Sequencing Center (GSC) at Washington University School of Medicine in St. Louis will publish the completed DNA sequences of human chromosomes 2 and 4 in the April 7 issue of Nature.

With this publication, the GSC completes its contributions to initial human genome sequencing and early inventory of potentially interesting genetic features in the 23 human chromosomes. Researchers at the GSC were primarily responsible for chromosomes 2, 4, 7 and Y, producing the initial analyses of more than 20 percent of the human genome.

Other institutions that contributed to the sequencing and analysis of chromosomes 2 and 4 include the University of Washington School of Medicine, the European Molecular Biology Laboratory, Pennsylvania State University, Stanford Human Genome Center and Lawrence Livermore National Laboratory.

Chromosome 2 and chromosome 4 are approximately 237 million base pairs and 186 million base pairs long. Scientists confirmed the existence of a total of 1,346 protein-coding genes on chromosome 2 and 796 protein-coding genes on chromosome 4.

Included on chromosomes 2 and 4 are genes previously linked to Huntington's disease, polycystic kidney disease, a form of muscular dystrophy, and Wolf-Hirschhorn syndrome, a condition that causes severe birth defects and mental retardation.

Human chromosome 2, the second largest human chromosome, originated during the evolution of Homo sapiens by the merger of two chimpanzee chromosomes recently renamed chimp chromosomes 2a and 2b. Other scientists had previously identified the area where the two chromosomes fused together. The new analysis further highlights the remnants of that merger, including a region of about 2.6 million base pa
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Contact: Michael C. Purdy
purdym@wustl.edu
314-286-0122
Washington University School of Medicine
6-Apr-2005


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