Gene Name and Gene Symbol

Retinoblastoma RB1

Synonyms
a. b. c. d. e. f. g. p105-Rb PP110 RB RB1 gene RB_HUMAN Retinoblastoma-1 Retinoblastoma 1 (including osteosarcoma) h. Retinoblastoma-associated protein

can be in both, bilateral and usually inherited, or in extremely rare cases both eyes and the pineal glade can be sites of tumor growth, trilateral. It can be spotted quite easily because the pupil of the eye will look white in flash photographs instead of the usual red eye. Treatments range from enucleation (removal of the eye) to radiation therapy, cryotharapy, chemotherapy, thermotherapy as well as numerous clinical trials (Institute, 2012). If caught early there may be a chance to save vision in the affected eye. In inherited retinoblastoma there is an increased risk of developing non-retinal cancers (Institute, 2012).

Gene Cytogenetic location:

13q14.2 Genomic coordinates (GRCh37): 13:48,877,882 - 49,056,025

What is interesting about this gene and it's function in the organism.
This gene is especially interesting because of the tumors that can arise when a mutation is present. RB1 gene codes for retinoblastoma protein. This protein functions in cell cycle regulation specifically during the S and G2 phases. This gene is active in many cells in the body, not just the retina; its not known why a mutation in the rb1 region results specifically in a retinal tumor and not in tumors found elsewhere. The protein keeps damaged DNA from being replicated as well. There are RB1 homologs in most mammals (Overview of ENSG00000139687_RB1 marker).

Gene Product and function

The RB1 gene encodes for the RB protein that keeps the cells from dividing too fast or uncontrolled (Institute, 2012). Its part of the regulatory cascade for DNA replication (see the chart below). RB1 binds to E2F DNA transcription factors keeping the cell in G1 as well as forming a complex that further inhibits DNA synthesis (Contributers, 2012). RB1 protein is inactivated by phosphorylation. When the cell cycle needs to progress cyclin-dependent kinases phosphorylate the RB protein and it dissociates from the E2F transcription factors. Mutations can occur in many of the exons to cause retinoblastoma. In some exons, mutations caused bilateral tumors more often than unilateral.

Significance of this gene to human affairs

Mutations in the RB1 gene cause a childhood cancer in the retina of the eye; mean age of diagnosis is 24 months. The cancer is usually in one eye, unilateral, but

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A description of the most interesting allele(s), the phenotype(s) they produce, and the modes of transmission of the allele(s):
40% of the cases of retinoblastoma are germinal, inherited, and 60% are spomatic mutations. The mutation follows an autosomal dominant inheritance meaning that inheriting one mutated allele is enough for an increased risk of cancer. A mutation may also occur early in embryonic development causing retinoblastoma (US National Library of Medicine, 2009) though autosomal dominant, mutations in both RB1 genes must be present for cancer formation (Lohmann, 2000).

US National Library of Medicine. (2009, April). RB! Retrieved May 28, 2012, from Genetic Home Reference: http://ghr.nlm.nih.gov/gene/RB1 Contributers, W. (2012, June 2). Retinablastoma Protien. Retrieved June 2, 2012, from Wikipedia: http://en.wikipedia.org/wiki/RB1 Institute, N. C. (2012, March 16). Retinoblastoma. Retrieved Jun 2, 2012, from National Cancer Institute: http://www.cancer.gov/cancertopics/pdq/t reatment/retinoblastoma/patient/page4 Lohmann, D. R. (2000, July). Retinoblastoma. GeneReveiws . Overview of ENSG00000139687_RB1 marker. (n.d.). Retrieved May 28, 2012, from Othologous Mamalian Markers: http://www.orthomam.univmontp2.fr/orthomam/data/cds/detailMark ers/ENSG00000139687_RB1.xml

Genetic genotypes/phenotypes and environmental influences.

There are no known environmental causes of the mutation but depending on the retinoblastoma treatment other forms of cancer can arise not including the regular increased risk of cancer forming from the mutations in rb1.