10 November, 2014
RB Gene The RB1 gene, or retinoblastoma 1, provides gene instructions for making pRB (Genetics Home Reference). Protein pRB is a tumor suppressor which acts as a regulator for cells (Genetics Home Reference). The tumor suppressor keeps cell from dividing too fast or in an uncontrolled way. pRb networks with other proteins to influence cell survival, apoptosis and differentiation (Genetics Home Reference). There are two types the RB1 gene contributes to cancer. The first is familial, or inheritance, when the individual already has a copy of the mutated gene in all their cells (Cancer Quest). This individual requires a single mutation on another copy to contribute to the dysfunction of pRb (Cancer Quest). With familial retinoblastoma, multiple tumors may occur because there is a high probability of a second mutation occurring (Cancer Quest). The second is the sporadic form, where individuals have fully functioning pRb’s in all their cells. This individual would need two separate mutations in the same cell in order to lose function in pRB (Cancer Quest). With sporadic retinoblastoma, usually one tumor would develop as a result (Cancer Quest). Retinoblastoma occurs in the development of a retina (NCBI). As a result, children are most likely to have this caner. RB1 gene is located on the long (q) arm of chromosome 13 at position 14.2 (Genetics Home Reference). The pictures below are what the mutated version of both familial and sporadic retinoblastoma look like.
Works Cited
CancerQuest | Tumor Suppressors: The Retinoblastoma (Rb) Gene. (n.d.). Retrieved November 10, 2014, from http://www.cancerquest.org/introduction-retinoblastoma.html
RB1 gene. (2009). Retrieved November 10, 2014, from http://ghr.nlm.nih.gov/gene/RB1
Result Filter. (n.d). Retrieved November 10, 2014, from http://www.ncbi.gov/pubmed/10517868
Cited: CancerQuest | Tumor Suppressors: The Retinoblastoma (Rb) Gene. (n.d.). Retrieved November 10, 2014, from http://www.cancerquest.org/introduction-retinoblastoma.html RB1 gene. (2009). Retrieved November 10, 2014, from http://ghr.nlm.nih.gov/gene/RB1 Result Filter. (n.d). Retrieved November 10, 2014, from http://www.ncbi.gov/pubmed/10517868