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MBE Advance Access published online on August 3, 2005
Molecular Biology and Evolution, doi:10.1093/molbev/msi222
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© The Author 2005. Published by Oxford University Press on behalf of the Society for Molecular Biology and Evolution. All rights reserved. For permissions, please e-mail: journals.permissions@oupjournals.org
Accepted July 22, 2005

Research Article

A Novel Gene Family NBGF: Intricate Structure Generated by Gene Duplications during Primate Evolution

Karl Vandepoele 1, Nadine Van Roy 2, Katrien Staes 1, Frank Speleman 2, and Frans van Roy 1*

1 Department for Molecular Biomedical Research, VIB-Ghent University, Technologiepark 927, B-9052 Ghent, Belgium
2 Department of Medical Genetics, Ghent University Hospital, De Pintelaan 185, B-9000 Ghent, Belgium

* To whom correspondence should be addressed.
Frans van Roy, E-mail: F.VanRoy{at}DMBR.UGent.be


  Abstract

Partial and complete genome duplications occurred during evolution and resulted in the creation of new genes and gene families. We identified a novel and intricate human gene family located primarily in regions of segmental duplications on human chromosome 1. We named it NBGF, for Neuroblastoma Breakpoint Gene Family, because one of its members is disrupted by a chromosomal translocation in a neuroblastoma patient. The NBGF genes have a repetitive structure with high intragenic and intergenic sequence similarity in both coding and non-coding regions. These similarities might expose these genomic regions to illegitimate recombination, resulting in structural variation in the NBGF genes. The encoded proteins contain a highly conserved domain of unknown function, which we have named the NBGF-repeat. In silico analysis combined with the isolation of multiple full-length cDNA clones showed that several members of this gene family are abundantly expressed in a large variety of tissues and cell lines. Strikingly, no discernable orthologues could be identified in the completed genomes of fruitfly, nematode, mouse or rat, but sequences with low homology could be isolated from the draft canine and bovine genomes. Interestingly, this gene family shows primate-specific duplications that result in species-specific arrays of NBGF homologous sequences. Overall, this novel NBGF family reflects the continuous evolution of primate genomes that resulted in large physiological differences, and its potential role in this process is discussed.

Keywords: segmental duplication; gene family; neuroblastoma; evolution.
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