Molecular Biology and Evolution, Vol 16, 1019-1026, Copyright © 1999 by Society for Molecular Biology and Evolution
MP Keller, BA Seifried and PF Chance
The CMT1A-REP repeat consists of two copies of a 24-kb sequence on human
chromosome 17p11.2-12 that flank a 1.5-Mb region containing a
dosage-sensitive gene, peripheral nerve protein-22 (PMP22). Unequal meiotic
crossover mediated by misalignment of proximal and distal copies of the
CMT1A-REP in humans leads to a 1.5-Mb duplication or deletion associated
with two common peripheral nerve diseases, Charcot- Marie-Tooth disease
type 1A (CMT1A) and hereditary neuropathy with liability to pressure
palsies (HNPP). Previous molecular hybridization studies with CMT1A-REP
sequences suggested that two copies of the repeat are also found in the
chimpanzee, raising the possibility that this unique repeat arose during
primate evolution. To further characterize the structure and evolutionary
synthesis of the CMT1A-REP repeat, fluorescent in situ hybridization (FISH)
analysis and heterologous PCR-based assays were carried out for a series of
primates. Genomic DNA was analyzed with primers selected to differentially
amplify the centromeric and telomeric ends of the human proximal and distal
CMT1A-REP elements and an associated mariner (MLE) sequence. All primate
species examined (common chimpanzee, pygmy chimpanzee, gorilla, orangutan,
gibbon, baboon, rhesus monkey, green monkey, owl monkey, and galago) tested
positive for a copy of the distal element. In addition to humans, only the
chimpanzee was found to have a copy of the proximal CMT1A-REP element. All
but one primate species (galago) tested positive for the MLE located within
the CMT1A- REP sequence. These observations confirm the hypothesis that the
distal CMT1A-REP element is the ancestral sequence which was duplicated
during primate evolution, provide support for a human-chimpanzee clade, and
suggest that insertion of the MLE into the CMT1A-REP sequence occurred in
the ancestor of anthropoid primates.
ORIGINAL ARTICLE
Molecular evolution of the CMT1A-REP region: a human- and chimpanzee- specific repeat
Division of Neurology, Children's Hospital of Philadelphia, USA.
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