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Cause of chromosomal birth defects studied

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Published: Sept. 17, 2009 at 10:17 AM

TALLAHASSEE, Fla., Sept. 17 (UPI) -- A Florida State University scientist says he's found the cause of chromosomal birth defects, such as Down, XYY, Edwards, Patau and Turner's syndromes.

Using yeast genetics, Assistant Professor Hong-Guo Yu and colleagues selectively removed a single protein from the cell division process called meiosis and found that when the protein known as Pds5 is missing, chromosomes fail to segregate and pair up properly, and birth defects can result.

Researchers said the study shines new light on the protein, its crucial regulatory role during meiosis and the impact of its absence on the molecular-level genesis of human chromosomal birth defects.

The scientists said their findings, reported in the Journal of Cell Biology, might contribute to the eventual development of targeted, molecular-level interventions.

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