NBPF

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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]

Contents

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]

Genes

"P" indicates a pseudogene.

See also

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The Olduvai domain, known until 2018 as DUF1220 and the NBPF repeat, is a protein domain that shows a striking human lineage-specific (HLS) increase in copy number and appears to be involved in human brain evolution. The protein domain has also been linked to several neurogenetic disorders such as schizophrenia and increased severity of autism. In 2018, it was named by its discoverers after Olduvai Gorge in Tanzania, one of the most important archaeological sites for early humans, to reflect data indicating its role in human brain size and evolution.

Isodicentric 15

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NBPF3 protein-coding gene in the species Homo sapiens

Neuroblastoma breakpoint family, member 3, also known as NBPF3, is a human gene of the neuroblastoma breakpoint family, which resides on chromosome 1 of the human genome. NBPF3 is located at 1p36.12, immediately upstream of genes ALPL and RAP1GAP.

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NBPF15 protein-coding gene in the species Homo sapiens

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NBPF10 protein-coding gene in the species Homo sapiens

Neuroblastoma breakpoint family member 10 is a protein that in Homo sapiens is encoded by the NBPF10 gene.

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1q21.1 deletion syndrome is a rare aberration of chromosome 1. A human cell has one pair of identical chromosomes on chromosome 1. With the 1q21.1 deletion syndrome, one chromosome of the pair is not complete, because a part of the sequence of the chromosome is missing. One chromosome has the normal length and the other is too short.

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NBPF1 protein-coding gene in the species Homo sapiens

Neuroblastoma breakpoint family, member 1, or NBPF1, is a protein that is encoded by the gene NBPF1 in humans. This protein is member of the neuroblastoma breakpoint family of proteins, a group of proteins that are thought to be involved in the development of the nervous system.

NBPF19 protein-coding gene in the species Homo sapiens

Neuroblastoma breakpoint family member 19, or NBPF19, is a protein that in humans is encoded by the NBPF19 gene. This protein is included in the neuroblastoma breakpoint family of proteins.

References

  1. 1 2 Vandepoele, 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.
  2. 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.