Segmental duplications (SDs) play a key role in genome evolution by providing material for gene diversification and creation of variant or
novel functions. They also mediate recombinations, resulting in microdeletions, which have occasionally been associated with human genetic
diseases. Here, we present a detailed analysis of a large genomic region (about 240 kb), located on human chromosome 1q22, that contains a
tandem SD, SD1q22. This duplication occurred about 37 million years ago in a lineage leading to anthropoid primates, after their separation from
prosimians but before the Old and New World monkey split. We reconstructed the hypothetical unduplicated ancestral locus and compared it with
the extant SD1q22 region. Our data demonstrate that, as a consequence of the duplication, new anthropoid-specific genetic material has evolved in
the resulting paralogous segments. We describe the emergence of two new genes, whose new functions could contribute to the speciation of
anthropoid primates. Moreover, we provide detailed information regarding structure and evolution of the SD1q22 region that is a prerequisite for
future studies of its anthropoid-specific functions and possible linkage to human genetic disorders.
© 2006 Elsevier Inc. All rights reserved.