Human Molecular Genetics, Vol 6, 2291-2299, Copyright © 1997 by Oxford University Press
DM Baird and NJ Royle
A high level of sequence polymorphism combined with linkage disequilibrium
has created a limited number of highly diverged haplotypes across the human
Xp/Yp telomere junction region. To gain insight into the unusual genetic
characteristics of this region, we have examined the orthologous sequences
in the common chimpanzee (Pan troglodytes ), the gorilla (Gorilla gorilla)
and the orang-utan (Pongo pygmaeus). Divergence from the human Xp/Yp
sequence is higher (average 2.6-fold) than that observed at other loci. The
position of the human Xp/Yp telomere is unique, as additional sequences are
present at this location in the other three species. These included an
array of subterminal satellite in the chimpanzee and, in the gorilla a
small interstitial array of telomere-like repeats followed by sequences
with strong homology to the human 18p subterminal region. In the
orang-utan, two alleles with different structures were identified. These
differ by the presence or absence of a short interspersed nuclear element
(SINE) sequence just proximal to long arrays of telomere-like repeat
sequences that probably represent the proximal end of the orang-utan Xp/Yp
telomere. In addition, a high level of sequence divergence between the two
orang-utan structures was identified. This divergence is similar to that
observed between the human Xp/Yp telomere-adjacent haplotypes. The high
sequence divergence and evidence of gross rearrangements indicate that the
Xp/Yp telomeric region has evolved faster than the rest of the genome.
ARTICLES
Sequences from higher primates orthologous to the human Xp/Yp telomere junction region reveal gross rearrangements and high levels of divergence
Department of Genetics, University of Leicester, University Road, Leicester LE1 7RH, UK.
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