Human Molecular Genetics, Vol 7, 1425-1429, Copyright © 1998 by Oxford University Press
G Cooper, DC Rubinsztein and W Amos
A large majority of human microsatellite markers are longer than their
homologues in chimpanzees, suggesting that more expansion mutations have
occurred in the lineage leading to humans. However, such a length
difference has also been explained as arising from the selection of
unusually long microsatellites as genetic markers. In order to resolve this
controversy and to establish the true source of the observed length
differences, we have now conducted the necessary reciprocal study. We have
compared the lengths of size-selected markers cloned from chimpanzees
between this species and humans. We find that of 19 markers which were
informative and polymorphic in both species, 13 are longer in humans. This
result is incompatible with ascertainment bias being the sole explanation
for the inter-specific length differences. We estimate that dinucleotide
repeat microsatellites are an average of 3.2 repeat units longer in humans
than in chimpanzees, implying a mutational bias in favour of microsatellite
expansions and a higher average genome-wide microsatellite mutation rate in
the human lineage.
ARTICLES
Ascertainment bias cannot entirely account for human microsatellites being longer than their chimpanzee homologues
University of Cambridge, Department of Zoology, Downing Street, Cambridge CB2 3EJ, UK. gc215@cus.cam.ac.uk
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