A novel gene family NBPF: intricate structure generated by gene duplications during primate evolution.

Bibliographic Collection: 
MOCA Reference, APE
Publication Type: Journal Article
Authors: Vandepoele, Karl; Van Roy, Nadine; Staes, Katrien; Speleman, Frank; van Roy, Frans
Year of Publication: 2005
Journal: Mol Biol Evol
Volume: 22
Issue: 11
Pagination: 2265-74
Date Published: 2005 Nov
Publication Language: eng
ISSN: 0737-4038
Keywords: Amino Acid Sequence, Animals, Base Sequence, Chromosome Mapping, Chromosomes, Human, Pair 1, Cluster Analysis, DNA Primers, DNA, Complementary, Evolution, Molecular, Genes, Duplicate, Humans, In Situ Hybridization, Fluorescence, Molecular Sequence Data, Multigene Family, Neuroblastoma, Phylogeny, Primates, Reverse Transcriptase Polymerase Chain Reaction, Sequence Analysis, DNA, Translocation, Genetic

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 NBPF, for neuroblastoma breakpoint family, because one of its members is disrupted by a chromosomal translocation in a neuroblastoma patient. The NBPF genes have a repetitive structure with high intragenic and intergenic sequence similarity in both coding and noncoding regions. These similarities might expose these genomic regions to illegitimate recombination, resulting in structural variation in the NBPF genes. The encoded proteins contain a highly conserved domain of unknown function, which we have named the NBPF 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 fruit fly, 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 NBPF homologous sequences. Overall, this novel NBPF family reflects the continuous evolution of primate genomes that resulted in large physiological differences, and its potential role in this process is discussed.

DOI: 10.1093/molbev/msi222
Alternate Journal: Mol. Biol. Evol.
Related MOCA Topics: