Family of mammalian genes involved in brain evolution
The neuroblastoma breaking point family (NBPF) is a family of genes involved in neuronal development. The family is highly specific to primates, with minimal similarity or presence in other mammals and no presence in other animals, and its genes' content has been subject to a very high number of duplications in humans. It was described by Vandepoele et al. in 2005 and named as such because NBPF1 was found to be broken by a chromosomal translocation in a neuroblastoma patient.[1]
The NBPF genes contain multiple copies of the Olduvai domain. A higher number of copies of this domain has been found to be correlated with brain size and autism severity, while a lower number of copies has been found to be correlated with schizophrenia severity.[2] The only other gene known to have an Olduvai domain is myomegalin, which is believed to be the origin of the NBPF genes as it has orthologues in more basal mammals. Additionally, myomegalin is adjacent to many of the NBPF genes on chromosome 1q21. The first three genes are located at 1p36, while the next four are located at 1p12 and the next eleven at 1q21.[1]
^ abVandepoele, Karl; Van Roy, Nadine; Staes, Katrien; Speleman, Frank; van Roy, Frans (2005-11-01). "A Novel Gene Family NBPF: Intricate Structure Generated by Gene Duplications During Primate Evolution". Molecular Biology and Evolution. 22 (11): 2265–2274. doi:10.1093/molbev/msi222. ISSN 0737-4038. PMID 16079250.
^O'Bleness MS, Dickens CM, Dumas LJ, Kehrer-Sawatzki H, Wyckoff GJ, Sikela JM (September 2012). "Evolutionary history and genome organization of DUF1220 protein domains". G3. 2 (9): 977–86. doi:10.1534/g3.112.003061. PMC 3429928. PMID 22973535.
The neuroblastoma breaking point family (NBPF) is a family of genes involved in neuronal development. The family is highly specific to primates, with minimal...
domain, known until 2018 as DUF1220 (domain of unknown function 1220) and the NBPF repeat, is a protein domain that shows a striking human lineage-specific...
and they reside on the chromosomal location 1p36.12. Most members of the NBPF gene family are located on chromosomal location 1q21.1-1q23.3 in humans,...
what is known as the NBPF repeat, which is a two-exon stretch of sequence that is characteristic of all 21 members of the NBPF gene family. The repeat...
1. NBPF contains what is known as the DUF1220 repeats. The highly conserved, repeated region is believed to be originated from MGC8902. The NBPF family...
Gene: NBPF member 19". Retrieved 2018-05-04. Vandepoele K, Van Roy N, Staes K, Speleman F, van Roy F (November 2005). "A novel gene family NBPF: intricate...
(GBPfE) 1,435 1898-01-25 GBS 1877-01-01 Neue Berliner Pferdebahn-Gesellschaft (NBPfG) 1,435 1900-01-01 GBS 1879-04-01 Große Internationale Pferde-Eisenbahn-Gesellschaft...
Olduvai domain. Olduvai domains have so far only elsewhere been found in NBPF genes in placental mammals, many of which are adjacent to myomegalin on chromosome...
neuroblastoma breakpoint family and oncogenesis. Due to the up-regulation of NBPF genes in some tumor tissues, proteins of this family have been hypothesized...
Global Information