The neuroblastoma breaking point family (''NBPF'') is a family of genes involved in neuronal development. The family is highly specific to

primates Primates are a diverse order of mammals. They are divided into the strepsirrhines, which include the lemurs, galagos, and lorisids, and the haplorhines, which include the tarsiers and the simians (monkeys and apes, the latter including huma ...

, with minimal similarity or presence in other

mammals Mammals () are a group of vertebrate animals constituting the class Mammalia (), characterized by the presence of mammary glands which in females produce milk for feeding (nursing) their young, a neocortex (a region of the brain), fur or ...

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 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 th ...

'' was found to be broken by a

chromosomal translocation In genetics, chromosome translocation is a phenomenon that results in unusual rearrangement of chromosomes. This includes balanced and unbalanced translocation, with two main types: reciprocal-, and Robertsonian translocation. Reciprocal translo ...

in a

neuroblastoma Neuroblastoma (NB) is a type of cancer that forms in certain types of nerve tissue. It most frequently starts from one of the adrenal glands but can also develop in the neck, chest, abdomen, or spine. Symptoms may include bone pain, a lump in the ...

patient. The ''NBPF'' genes contain multiple copies of the

Olduvai domain The Olduvai 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 (HLS) increase in copy number and appears to be involved in human brain evolu ...

. A higher number of copies of this domain has been found to be correlated with brain size and

autism The autism spectrum, often referred to as just autism or in the context of a professional diagnosis autism spectrum disorder (ASD) or autism spectrum condition (ASC), is a neurodevelopmental condition (or conditions) characterized by difficulti ...

severity, while a lower number of copies has been found to be correlated with

schizophrenia Schizophrenia is a mental disorder characterized by continuous or relapsing episodes of psychosis. Major symptoms include hallucinations (typically hearing voices), delusions, and disorganized thinking. Other symptoms include social withdra ...

severity. The only other gene known to have an Olduvai domain is

myomegalin Myomegalin, also known as phosphodiesterase 4D-interacting protein or cardiomyopathy-associated protein 2, is a protein that in humans is encoded by the ''PDE4DIP'' gene. It has roles in the formation of microtubules from the centrosome. Its name ...

, which is believed to be the origin of the ''NBPF'' genes as it has

orthologues Sequence homology is the biological homology between DNA, RNA, or protein sequences, defined in terms of shared ancestry in the evolutionary history of life. Two segments of DNA can have shared ancestry because of three phenomena: either a sp ...

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.

Genes

* ''

'' * ''NBPF2P'' * '' NBPF3'' * '' NBPF4'' * '' NBPF5'' * '' NBPF6'' * '' NBPF7'' * '' NBPF8'' * '' NBPF9'' * '' NBPF10'' * '' NBPF11'' (''NBPF24'') * ''

NBPF12 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 th ...

'' * ''NBPF13P'' * '' NBPF14'' * '' NBPF15'' (''NBPF16'') * ''NBPF17P'' (''NBPF23'') * ''NBPF18P'' * '' NBPF19'' * '' NBPF20'' * ''NBPF21P'' * ''NBPF22P'' *'' NBPF26'' "P" indicates a

pseudogene Pseudogenes are nonfunctional segments of DNA that resemble functional genes. Most arise as superfluous copies of functional genes, either directly by DNA duplication or indirectly by Reverse transcriptase, reverse transcription of an mRNA trans ...

References

{{Reflist Gene families

Genes

See also

References