Human Molecular Genetics, Vol 5, 899-912, Copyright © 1996 by Oxford University Press
EE Eichler, F Lu, Y Shen, R Antonacci, V Jurecic, NA Doggett, RK Moyzis, A Baldini, RA Gibbs and DL Nelson
We have identified a 26.5 kb gene-rich duplication shared by human Xq28 and
16p11.1. Complete comparative sequence analysis of cosmids from both loci
has revealed identical Xq28 and 16p11.1 genomic structures for both the
human creatine transporter gene (SLC6A8) and five exons of the CDM gene
(DXS1357E). Overall nucleotide similarity within the duplication was found
to be 94.6%, suggesting that this interchromosomal duplication occurred
within recent evolutionary time (7-10 mya). Based on comparisons between
genomic and cDNA sequence, both the Xq28 creatine transporter and DXS1357E
genes are transcriptionally active. Predicted translation of exons and
RT-PCR analysis reveal that chromosome 16 paralogs likely represent
pseudogenes. Comparative fluorescent in situ hybridization (FISH) analyses
of chromosomes from various primates indicate that this gene- rich segment
has undergone several duplications. In gorilla and chimpanzee, multiple
pericentromeric localizations on a variety of chromosomes were found using
probes from the duplicated region. In other species, such as the orangutan
and gibbon, FISH signals were only identified at the distal end of the X
chromosome, suggesting that the Xq28 locus represents the ancestral copy.
Sequencing of the 16p 11.1/Xq28 duplication breakpoints has revealed the
presence of repetitive immunoglobulin-like CAGGG pentamer sequences at or
near the paralogy boundaries. The mobilization and dispersal of this
gene-rich 27 kb element to the pericentromeric regions of primate
chromosomes defines an unprecedented form of recent genome evolution and a
novel mechanism for the generation of genetic diversity among closely
related species.
ARTICLES
Duplication of a gene-rich cluster between 16p11.1 and Xq28: a novel pericentromeric-directed mechanism for paralogous genome evolution
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
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