Human Molecular Genetics, Vol 7, 13-26, Copyright © 1998 by Oxford University Press
BJ Trask, C Friedman, A Martin-Gallardo, L Rowen, C Akinbami, J Blankenship, C Collins, D Giorgi, S Iadonato, F Johnson, WL Kuo, H Massa, T Morrish, S Naylor, OT Nguyen, S Rouquier, T Smith, DJ Wong, J Youngblom and G van den Engh
We have identified three new members of the olfactory receptor (OR) gene
family within a large segment of DNA that is duplicated with high
similarity near many human telomeres. This segment is present at 3q, 15q,
and 19p in each of 45 unrelated humans sampled from various populations.
Additional copies are present polymorphically at 11 other subtelomeric
locations. The frequency with which the block is present at some locations
varies among populations. While humans carry seven to 11 copies of the
OR-containing block, it is located in chimpanzee and gorilla predominantly
at a single site, which is not orthologous to any of the locations in the
human genome. The observation that sequences flanking the OR-containing
segment are duplicated on larger and different sets of chromosomes than the
OR block itself demonstrates that the segment is part of a much larger,
complex patchwork of subtelomeric duplications. The population analyses and
structural results suggest the types of processes that have shaped these
regions during evolution. From its sequence, one of the OR genes in this
duplicated block appears to be potentially functional. Our findings raise
the possibility that functional diversity in the OR family is generated in
part through duplications and inter-chromosomal rearrangements of the DNA
near human telomeres.
ARTICLES
Members of the olfactory receptor gene family are contained in large blocks of DNA duplicated polymorphically near the ends of human chromosomes
Department of Molecular Biotechnology, Box 357730, University of Washington, Seattle, WA 98195, USA. trask@biotech.washington.edu
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