Scientists have identified a fusion protein that may contribute to
Cockayne syndrome, a devastating disease characterized by
developmental defects, neurodegeneration, severe wasting, and
premature aging.
Genetic defects in certain DNA repair factors like the CSB protein
have been known for some time to cause premature aging, but the
reasons are still unclear. Most cases of Cockayne syndrome (CS) are
caused by recessive mutations in the CSB gene, yet some individuals
with inherited mutations that cause complete loss of the CSB protein
are nearly unaffected. The implication is that CS is not caused solely
by loss of functional CSB protein, but by continued expression of CSB-
related proteins or protein fragments.
The University of Washington researchers, led by Alan Weiner, had been
investigating the normal function of the CSB gene when co-author John
Newman stumbled across hints that the human CSB gene harbored a
previously unsuspected guest. The guest was a "domesticated" PiggyBac
transposon -- a formerly selfish "jumping gene" that had settled into
the CSB gene over 40 million years ago before marmosets diverged from
humans.
Tonny
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