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UGA researchers propose model for disorders caused by improper transmission of chromosomes
Date:8/16/2009

Parents of healthy newborns often remark on the miracle of life. The joining of egg and sperm to create such delightful creatures can seem dazzlingly beautiful if the chromosome information from each parent has been translated properly into the embryo and newborn.

The darker side is that when extra copies of chromosomes or fewer than the normal 46 (23 from each parent) are present, tragic birth defects can occur. Now, scientists at the University of Georgia have developed a model system for plants and animals that shows the loss of a key structural protein can lead to the premature separation of one DNA copy called a chromatid.

The new model shows for the first time that the loss of this protein can lead to aneuploidythe name given to birth disorders caused by extra or too few chromosomes. Disorders caused by errors in the proper transmission of chromosomes from each parent are uncommon but tragic nonetheless. Best known may be Down Syndrome, which is caused by an extra copy of chromosome 21. Many errors in chromosome transmission are so severe that miscarriages usually occur.

"As we know, human females have all the eggs they will ever have from the time of birth, and so as they age, the protein structures on chromosomes also age," said Kelly Dawe, a geneticist and plant biologist at UGA. "If an egg is fertilized late in life, the final stages of chromosome separation may not occur properly. The goal of the work, which was done in maize, is to find out which parts of the chromosomes are most sensitive to failure. We now believe that proteins in a structure called the kinetochore are among the most sensitive to degradation or mutation. That may be a clue as to why older women have more problems with these kinds of chromosomal disorders when giving birth than younger women."

The research was published today in the journal Nature Cell Biology. Co-author on the paper is former University of Georgia graduate student
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Contact: Kelly Dawe
kelly@plantbio.uga.edu
706-542-1658
University of Georgia
Source:Eurekalert

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