NBPF15 (neuroblastoma breakpoint family, member 15)

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NBPF15 (Neuroblastoma breakpoint factor, member 15), originally called MGC8902, is a gene that was identified as having undergone a human lineage specific copy number increase via cDNA arrayCGH. This gene contains 6 predicted DUF1220 protein domains (domain of unknown function 1220), a domain that increases in copy number generally as a function of a species' evolutionary proximity to humans. DUF1220 is expressed in several human tissues including brain where its expression is restricted to neurons. It is highly expressed in brain regions associated with higher cognitive function, has been linked to 1q21.1 CNVs associated with microcephaly and macrocephaly, and has been hypothesized to play a key role in the evolution of the human brain.


Timing of appearance of the difference in the Hominin Lineage as a defined date or a lineage separation event. The point in time associated with lineage separation events may change in the future as the scientific community agrees upon better time estimates. Lineage separation events are defined in 2017 as:

  • the Last Common Ancestor (LCA) of humans and old world monkeys was 25,000 - 30,000 thousand (25 - 30 million) years ago
  • the Last Common Ancestor (LCA) of humans and chimpanzees was 6,000 - 8,000 thousand (6 - 8 million) years ago
  • the emergence of the genus Homo was 2,000 thousand (2 million) years ago
  • the Last Common Ancestor (LCA) of humans and neanderthals was 500 thousand years ago
  • the common ancestor of modern humans was 100 - 300 thousand years ago

Definite Appearance: 
6,000 thousand years ago
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Genetics Topic Attributes
Gene symbols follow the HUGO Gene Nomenclature Committee standard.
Gene Symbol Type of Human-Specific Changes
NBPF15 Copy Number Changes


  1. DUF1220 domains, cognitive disease, and human brain evolution., Dumas, L, and Sikela J M. , Cold Spring Harb Symp Quant Biol, 2009, Volume 74, p.375-82, (2009)
  2. Human lineage-specific amplification, selection, and neuronal expression of DUF1220 domains., Popesco, Magdalena C., Maclaren Erik J., Hopkins Janet, Dumas Laura, Cox Michael, Meltesen Lynne, McGavran Loris, Wyckoff Gerald J., and Sikela James M. , Science, 2006 Sep 1, Volume 313, Issue 5791, p.1304-7, (2006)
  3. Lineage-specific gene duplication and loss in human and great ape evolution., Fortna, A., Kim Y., MacLaren E., Marshall K., Hahn G., Meltesen L., Brenton M., Hink R., Burgers S., Hernandez-Boussard T., et al. , PLoS Biol, 07/2004, Volume 2, Issue 7, p.E207, (2004)