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"Jumping Gene" May Induce Premature Aging Syndrome

Cockayne syndrome (CS), a disease characterized by developmental defects, neurodegeneration, severe wasting, and premature aging, has been linked to a specific fusion protein, as reported in an article published March 21, 2008 in the open-access journal PLoS Genetics.

Genetic factors for CS have already been identified. Specifically, defects in certain DNA repair factors such as the CSB protein has been known to cause premature aging, but the reasons for this are still unclear. For example, Cockayne syndrome is commonly linked to recessive mutations in the CSB gene, but complete loss of the CSB protein in an individual are usually unaffected. This implication that CS is not simply a deficiency in the functional CSB protein indicates that it must be caused by continued expression of fragments of CSB or other proteins related to the pathway.

Led by Alan Weiner, a team from the University of Washington was investigating the CSB gene's normal function when co-author John Newman discovered an unexpected partner to the gene. Namely, a "domesticated" PiggyBac transposon, a "jumping gene" that has settled into the CSB gene 40 million years before even marmosets evolutionarily diverged from humans.

Thus, the CSB gene actually produced two products in equal abundance: the normal CSB protein, and a fusion protein combining the start of the CSB protein fused to the DNA transposase encoded by PiggyBac. This second fusion protein was expressed in almost all CS patients, but not in patients who were unaffected, with a complete loss of the CSB protein.

This conserved fusion protein is implied to be advantageous for the human species in the presence of the CSB protein, but devastating for individuals lacking the full CSB protein. This creates a fuller but more complicated picture of the disease. Newman states. "The discovery of the fusion protein complicates an already complicated situation. Now we have a whole new set of questions to answer."

About PLoS Genetics

PLoS Genetics (http://www.plosgenetics.org) reflects the full breadth and interdisciplinary nature of genetics and genomics research by publishing outstanding original contributions in all areas of biology. All works published in PLoS Genetics are open access. Everything is immediately and freely available online throughout the world subject only to the condition that the original authorship and source are properly attributed. Copyright is retained by the authors. The Public Library of Science uses the Creative Commons Attribution License.

About the Public Library of Science

The Public Library of Science (PLoS) is a non-profit organization of scientists and physicians committed to making the world's scientific and medical literature a freely available public resource. For more information, visit http://www.plos.org.

Abundant Evolutionarily Conserved CSB-PiggyBac Fusion Protein Expressed in Cockayne Syndrome
Newman JC, Bailey AD, Fan H-Y, Pavelitz T, Weiner AM
PLoS Genet 4(3): e1000031.
doi:10.1371/journal.pgen.1000031
Click Here For Full Length Article

Written by Anna Sophia McKenney
Copyright: Start Sanatate
Not to be reproduced without permission of Start Sanatate





"Jumping de gene" poate induce sindrom de imbatranire prematura - "Jumping Gene" May Induce Premature Aging Syndrome - articole medicale engleza - startsanatate