Chromosomes 5, 16, and 19 with Associated Disease Genes

image credit: U.S. Department of Energy's Joint Genome Institute, Walnut Creek, CA, http://www.jgi.doe.gov.

caption: Sequencing and analysis of human chromosomes have enabled researchers to characterize in detail a number of genes associated with diseases. Draft sequences of chromosomes 5, 16, and 19 (pictured above) were constructed by the DOE Joint Genome Institute (JGI), with data analysis by the Computational Bioinformatics group at Oak Ridge National Laboratory. The JGI is part of a consortium of five major international partners working together to provide by 2003 a high-quality reference sequence for the entire human genome—the ultimate goal of the Human Genome Project.

Identifying the genes on all human chromosomes offers scientists worldwide an invaluable resource for improving human health and combating disease. Knowledge about genes will increase understanding of how genetics influences the development of disease, help researchers find genes associated with particular diseases, and aid in the development of new pharmaceuticals.

Chromosome 5. Chromosome 5, with an estimated 194 million bases, represents about 6% of the human genome. Rresearchers at Lawrence Berkeley National Laboratory have discovered two genes on chromosome 5 that contribute to the development of asthma, a complex disease believed to be linked to a number of genes. Asthma affects more than 5% of people in the United States; the number has doubled over the last 15 years and continues to rise. Further work may reveal additional genes or biological pathways linked to asthma and may suggest potential target for drug interventions. Other disease-linked genes on chromosome 5 include those for a type of dwarfism, severe combined immunodeficiency, schizophrenia, colorectal cancer, basal cell carcinoma, deafness, acute myelogenous leukemia, susceptibility to obesity, and atrial septal defect (a heart defect).

Chromosome 16. Chromosome 16 contains about 98 million bases, or some 3% of the human genome. Studies have implicated a gene on chromosome 16 in the development of adult polycystic kidney disease (PKD), the most common potentially fatal disease caused by a defect in a single gene. An estimated 5 million people worldwide have PKD (500,000 in the United States), and half require dialysis or a kidney transplant by the age of 60. Knowledge gained through HGP data will pave the way for earlier diagnostic methods and more effective treatments of this disease. Other major ailments associated with chromosome 16 are inflammatory bowel disease (ulcerative colitis and Crohn disease); breast and prostate cancers; Batten's Disease (a juvenile-onset neurodegenerative disorder); Fanconi anemia (a rare disease characterized by skeletal abnormalities, bone marrow failure, and a predisposition to cancer); and acute nonlymphocytic leukemia.

Chromosome 19. At 60 million bases in length, human chromosome 19 contains about 2% of the human genome, and data suggest that it is particularly gene rich. Important genes that have been the focus of intense study include three involved in the repair of DNA damage caused by exposure to radiation and other environmental pollutants. Studies of DNA-repair genes also may yield insights into the development of cancers, many of which are caused by defects in DNA-repair pathways. Another important gene family studied on chromosome 19 comprises some 60 genes involved in detoxifying and excreting chemicals foreign to the body. This gene family may influence individual responses to such substances as pollutants and medicines. Other identified chromosome 19 genes are associated with a rare type of migraine, myotonic dystrophy, atherosclerosis, and diabetes mellitus.

For more on the HGP and Medicine, see our Website.

For a free color poster depicting all the human chromosomes, see the Gene Gateway Website.

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