Copyright © 2002 The American Society of Human Genetics. All rights reserved.
The American Journal of Human Genetics, Volume 70, Issue 1, 269-278, 1 January 2002
doi:10.1086/338307
Report
A Cascade of Complex Subtelomeric Duplications during the Evolution of the Hominoid and Old World Monkey Genomes
Michel van Geel1, *, Evan E. Eichler2, Amy F. Beck1, Zhihong Shan3, 4, Thomas Haaf4, Silvère M. van der Maarel5, Rune R. Frants5 and Pieter J. de Jong1, †, 
, 
1 Department of Cancer Genetics, Roswell Park Cancer Institute, Buffalo
2 Department of Genetics and Center for Human Genetics, Case Western Reserve School of Medicine and University Hospitals of Cleveland, Cleveland
3 Molecular Cytogenetics Section, Laboratory of Experimental Carcinogenesis, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda
4 Max Planck Institute of Molecular Genetics, Berlin
5 Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
Address for correspondence and reprints: Dr. P. J. de Jong, Children’s Hospital Oakland, 747 52nd Street, Oakland, CA 94609* Present affiliation: Department of Dermatology, University Medical Center of Nijmegen, Nijmegen, The Netherlands.
† Present affiliation: Children’s Hospital of Oakland, Oakland, CA.
Abstract
Subtelomeric duplications of an obscure tubulin “genic” segment located near the telomere of human chromosome 4q35 have occurred at different evolutionary time points within the last 25 million years of the catarrhine (i.e., hominoid and Old World monkey) evolution. The analyses of these segments reported here indicate an exceptional level of evolutionary instability. Substantial intra- and interspecific differences in copy number and distribution are observed among cercopithecoid (Old World monkey) and hominoid genomes. Characterization of the hominoid duplicated segments reveals a strong positional bias within pericentromeric and subtelomeric regions of the genome. On the basis of phylogenetic analysis from predicted proteins and comparisons of nucleotide-substitution rates, we present evidence of a conserved b-tubulin gene among the duplications. Remarkably, the evolutionary conservation has occurred in a nonorthologous fashion, such that the functional copy has shifted its positional context between hominoids and cercopithecoids. We propose that, in a chimpanzee-human common ancestor, one of the paralogous copies assumed the original function, whereas the ancestral copy acquired mutations and eventually became silenced. Our analysis emphasizes the dynamic nature of duplication-mediated genome evolution and the delicate balance between gene acquisition and silencing.
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