RB1 (retinoblastoma 1 (including osteosarcoma)) is a human gene that belongs to a class of genes known as tumor suppressor genes. Like other tumor suppressor genes, RB1 regulates the cycle of cell division by keeping cells from growing and dividing too rapidly or in an uncontrolled way. The RB1 protein is located in cell nuclei throughout the body. This protein stops certain other proteins from triggering the process by which DNA makes a copy of itself (DNA replication). The RB1 protein may also play a role in the process by which cells mature to carry out special functions (differentiation), cell survival, and programmed cell death (apoptosis). Binomial name Homo sapiens Linnaeus, 1758 Subspecies Homo sapiens idaltu(extinct) Homo sapiens sapiens Homo (genus). ... This stylistic schematic diagram shows a gene in relation to the double helix structure of DNA and to a chromosome (right). ... A tumor suppressor gene is a gene that reduces the probability that a cell in a multicellular organism will turn into a tumor cell. ... Cell division is the process by which a cell (called the parent cell) divides into two cells (called daughter cells). ... In cell biology, the nucleus (from Latin nucleus or nuculeus, kernel) is found in all eukaryotic cells that contains most of the cells genetic material. ... DNA replication. ... Apoptosis In biology, apoptosis (from the Greek words apo = from and ptosis = falling, commonly pronounced ap-a-tow-sis[1]) is one of the main types of programmed cell death (PCD). ...

The RB1 gene is located on the long (q) arm of chromosome 13 at position 14.2, from base pair 47,775,911 to base pair 47,954,022. Chromosome 13 is one of the 23 pairs of chromosomes in humans. ... In molecular biology, two nucleotides on opposite complementary DNA or RNA strands that are connected via hydrogen bonds are called a base pair (often abbreviated bp). ...

Related conditions

Variations of the RB1 gene lead to an increased risk of developing retinoblastoma, which is a rare type of eye cancer that usually affects young children. More than 600 mutations in the RB1 gene have been identified in people with retinoblastoma. Most of these RB1 mutations prevent the gene from producing any functional protein. Without the RB1 protein, cells are unable to effectively regulate cell division and may divide uncontrollably to form a tumor. Retinoblastoma is a cancer of the retina. ... In biology, mutations are changes to the genetic material (usually DNA or RNA). ...

Inherited mutations in the RB1 gene also increase the risk of developing several other cancers. Specifically, people with retinoblastoma are more likely to develop pinealoma (a cancer of the pineal gland in the brain), a type of bone cancer called osteosarcoma, soft tissue cancers, and a form of skin cancer called melanoma.

Bladder cancer is associated with the RB1 gene. Some gene mutations are acquired during a person's lifetime and are present only in certain cells. These changes are called somatic mutations and are not inherited. Somatic mutations that inactivate the RB1 gene have been reported in some cases of bladder cancer. Mutations in RB1 are thought to contribute to the development of bladder cancer, and can help predict whether tumors will grow rapidly and spread to other tissues. Cystoscopic view of a papillary bladder tumor (top); the bladder wall is visible on the bottom right Bladder cancer refers to any of several types of malignant growths of the urinary bladder. ...

Other cancers: In addition to bladder cancer, somatic mutations in the RB1 gene are associated with many other types of cancer in humans. For example, changes in the RB1 gene have been reported in some cases of lung cancer, osteosarcoma, and melanoma. These mutations inactivate the RB1 protein so it cannot regulate cell division.

References

• Classon M, Harlow E (2002). The retinoblastoma tumour suppressor in development and cancer. Nat Rev Cancer 2 (12): 910-7. PMID 12459729
• Herwig S, Strauss M (1997). The retinoblastoma protein: a master regulator of cell cycle, differentiation and apoptosis. Eur J Biochem 246 (3): 581-601. PMID 9219514
• Korabiowska M, Ruschenburg I, Betke H, Stachura J, Schlott T, Cardo CC, Brinck U (2001). Downregulation of the retinoblastoma gene expression in the progression of malignant melanoma. Pathobiology 69 (5): 274-80. PMID 12107345
• Liu H, Dibling B, Spike B, Dirlam A, Macleod K (2004). New roles for the RB tumor suppressor protein. Curr Opin Genet Dev 14 (1): 55-64. PMID 15108806
• Lohmann DR, Gallie BL (2004). Retinoblastoma: revisiting the model prototype of inherited cancer. Am J Med Genet C Semin Med Genet 129 (1): 23-8. PMID 15264269
• Richter S, Vandezande K, Chen N, Zhang K, Sutherland J, Anderson J, Han L, Panton R, Branco P, Gallie B (2003). Sensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastoma. Am J Hum Genet 72 (2): 253-69. PMID 12541220

External links

• OMIM 180200
• EntrezGene 5925
• GeneCard
• RB1-Gene Mutation Database
• GeneReviews: Retinoblastoma