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Neuroblastoma breakpoint family (NBPF) is a family of genes named for the disruption of one member of the family in a patient with neuroblastoma. NBPF genes are highly repetitive and expressed in a variety of human tissues. The NPBF gene encodes DUF1220 protein domains, which are implicated in brain and behavioral phenotypes and in diseases such as microcephaly and macrocephaly (this is discussed in more detail in the DUF1220 section). Humans have unique NBPF genes and have increased copy numbers of the genes within this family that are shared with other primates.
Copy number increase
Gene copy number variation spanning 60 million years of human and primate evolution., , Genome Res, 09/2007, Volume 17, Issue 9, p.1266-77, (2007)
Human lineage-specific amplification, selection, and neuronal expression of DUF1220 domains., , Science, 2006 Sep 1, Volume 313, Issue 5791, p.1304-7, (2006)
A novel gene family NBPF: intricate structure generated by gene duplications during primate evolution., , Mol Biol Evol, 2005 Nov, Volume 22, Issue 11, p.2265-74, (2005)