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Gene maps of simpler life forms point the way to human disease gene

St. Louis, May 13, 2004 -- In an experiment that demonstrates how maps of the genetic codes of simpler organisms can shed light on human disease, a computerized comparison of the complete genetic codes of a type of algae, a weed and humans has led medical researchers to a gene linked to a human illness.

The comparison allowed researchers at Washington University School of Medicine in St. Louis to locate human genes that code for proteins likely to become part of hair-like structures on cells known as cilia or flagella. Researchers at Johns Hopkins University used the findings to pin down the location of a gene that contributes to Bardet-Biedl Syndrome (BBS), a rare genetic condition that causes blindness, mental retardation, severe obesity and many other problems.

The genetic comparison was arranged by Susan Dutcher, Ph.D., professor of genetics and of cell biology and physiology at Washington University. Dutcher studies cilia in the green alga Chlamydomonas. The work will be published in the May 14 issue of Cell.

"Almost every cell in the human body has cilia," Dutcher says. "Cilia that are active early in development ensure that organs like the heart and stomach end up where they're supposed to be. Cilia clear away dirt and bacteria in the respiratory tract, help sperm swim and help keep fluid flowing into and out of the brain, just to name a few examples."

Cilia and basal bodies, the structures that anchor them on the surfaces of cells, are complex. Scientists estimate that cells use at least 250 proteins to build cilia and an additional 150 for basal bodies.

Studying algae allows Dutcher's group to isolate and manipulate cilia more easily. Simpler life forms like Chlamydomonas often have genes for many basic cellular structures and functions that were wholly or partially preserved through the evolutionary development of more complex life forms. This Dutcher means genes in the alga that help build cilia often have matche
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Contact: Michael C. Purdy
purdym@wustl.edu
314-286-0122
Washington University School of Medicine
13-May-2004


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