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NBPF

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Human Uniqueness Compared to "Great Apes": 
Absolute Difference
MOCA Domain: 
Gene Family Expansion and Loss
MOCA Topic Authors: 
Veronica Searles
James Sikela

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.

Related MOCA Topics
Related Topics:
TitleCertainty
Increase in DUF1220 DomainsNone
The Human Difference: 

 
Copy number increase
Novel genes

References: 

Dumas L, Kim YH, Karimpou-Fard A et al (2007). Gene copy number variation spanning 60 million years of human and primate evolution. Genome Research 17:1266-1277.

Popesco MC, MacLaren EJ, Hopkins J et al (2006). Human Lineage-Specific Amplification, Selection, and Neuronal Expression of DUF1220 Domains. Science 313:1304-1307.

Vandepoele K, Van Roy N, Staes K et al (2005). A novel gene family NBPF: intricate structure generated by gene duplications during primate evolution. Mol. Biol. Evol. 22:265-.

 

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