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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
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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