Genes are segments of DNA that carry instructions for making proteins, which in turn carry out all of life's functions. Through a natural process called "alternative splicing," information contained in genes is modified so that one gene is capable of making several different proteins.
"Alternative splicing is a key mechanism for achieving a diverse range of proteins, which contributes to the complexity of higher organisms," said Dr. Harold "Skip" Garner, professor of biochemistry and internal medicine at UT Southwestern and senior author of a new study aimed at understanding how and why alternative splicing occurs in humans.
The study is available online and will be published in the April 15 issue of the journal Bioinformatics.
Errors in alternative splicing can result in truncated or unstable proteins, some of which are responsible for human diseases such as prostate cancer and schizophrenia, Dr. Garner said. But errors also can result in proteins with new functions that help drive evolutionary changes.
"Alternative splicing appears to occur in 30 percent to 60 percent of human genes, so understanding the regulatory mechanisms guiding the process is fundamentally important to almost all biological issues," said Dr. Garner.
Alternative splicing can be likened to alternative versions of a favorite cookie recipe. If the original recipe (the gene) calls for raisins, walnuts and chocolate chips, and you copy the recipe but leave out the raisins, you'll still get a cookie (protein) from your version, just a different cookie. Omit a necessary ingredient, such as flour, and you'll have a mess (nonfunctioning or malfunctioning protein).
Similarly, the information in genes is not directly converted into protein
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Contact: Amanda Siegfried
amanda.siegfried@utsouthwestern.edu
214-648-3404
UT Southwestern Medical Center
14-Apr-2005