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NBPF15 (neuroblastoma breakpoint family, member 15)

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Human Uniqueness Compared to "Great Apes": 
Absolute Difference
MOCA Domain: 
Genetics
MOCA Topic Authors: 
Majesta O'Bleness
James Sikela

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.

Genetics Topic Attributes

Gene symbols follow the HUGO Gene Nomenclature Committee standard.

Gene Symbol:
NBPF15 (NBPF15: neuroblastoma breakpoint family, member 15)
Type of Human-Specific Changes:
Copy Number Changes
Related MOCA Topics
Related Topics:
TitleCertainty
Brain SizeSpeculative
Increase in DUF1220 DomainsTrue
Timing

Timing of Appearance of the Difference in the Hominin Lineage.

For this entry assume that

  • the common ancestor of humans and old world monkeys was 25000 thousand (25 million) years ago
  • the common ancestor of humans and chimpanzees was 6000 thousand (6 million) years ago
  • the emergence of the genus Homo was 2000 thousand (2 million) years ago
  • the common ancestor of modern humans was 100 thousand years ago

 

Definite Appearance: 
6000 Thousand Years
References: 

Dumas L and Sikela JM. (2009) DUF1220 domains, cognitive disease, and human brain evolution. Cold Spring Harb Symp Quant Biol. 74:375-82. PMID: 19850849


Popesco MC, Maclaren EJ, Hopkins J, Dumas L, Cox M, Meltesen L, McGavran L, Wyckoff GJ, Sikela JM. (2006) Human lineage-specific amplification, selection, and neuronal expression of DUF1220 domains. Science. 313(5791):1304-7. PMID: 16946073


Fortna A, Kim Y, MacLaren E, Marshall K, Hahn G, Meltesen L, Brenton M, Hink R, Burgers S, Hernandez-Boussard T, Karimpour-Fard A, Glueck D, McGavran L, Berry R, Pollack J, Sikela JM. (2004) Lineage-specific gene duplication and loss in human and great ape evolution. PLoS Biol 2(7):E207. PMID: 15252450