Essays on Bioinformatics - Retinoblastoma Disease Assignment

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The paper "Bioinformatics - Retinoblastoma Disease" is a perfect example of a finance and accounting assignment. Discussing the gene RB1 itself, we find that the retinoblastoma susceptibility gene, known as RB1, is a tumour suppressor gene located on chromosome 13q. The gene contains instructions for making a protein called pRB with the function of suppressing a tumour i. e. it regulates cell growth and prevents uncontrolled manner. The official symbol for the gene is Rb1 and its other aliases are Rb, Rb-1 and pRb. pRB can also prevent other proteins from replicating DNA subject to certain conditions.

DNA replication refers to a process in which the DNA makes a copy of itself; it occurs before a cell can divide hence regulation of the process can prevent the growth of tumours. pRB also influences cell survival and self-destruction of cells (apoptosis) by interacting with other proteins. RB1 gene is related to the disease retinoblastoma, many mutations of the gene are found in people infected with the disease. Somatic mutations, gene mutations in certain cells acquired during the lifetime, are associated with many types of cancers such as bladder cancer, lung cancer and breast cancer as well.

The existence of these mutations can also increase the probability of developing other cancers like pinealoma, melanoma and osteosarcoma; making the gene a very interesting subject for academic discourse. For the development of retinoblastoma, It is necessary that mutations must occur in both copies (alleles) of the gene. According to Barts and The London, “ the spectrum of predisposing RB1 gene mutations includes large structural changes (about 10-20%) some of which are also detectable by cytogenetic analysis” . [] Single base substitutions and small insertions/deletions are the other changes.

Most of the tumours show a loss of one copy, known as heterozygosity whereas a mutation in the other remaining copy. In almost 10% of tumours we find hypermethylation at the RB1 gene promoter, inhibiting the levels of retinoblastoma protein made by the cell instead of its function.


1. References

1) (

-Used to obtain scientific information about Rb1.

2) (

-Used for the results of testing on families with retinoblastoma

3) (

-Comparing the protein across Human and Mice

4) (

-Picture of the structure of pRb/E2F crystal formed

5) (

-Picture of the Protein

6) (

-Used for figures and calculations of Knudson's two-hit hypothesis.

7) (

-Used to obtain uses of the proteins

8) Sakanaka M. et al., Proc. Natl. Acad. Sci. USA, 95, 4635-4640, 1998; Wen T. -C. et al., J. Exp. Med., 188, 635-649, 1998

9) Kim Y. -C., et al., J. Neurosci. Res., 53, 426-432, 1998

10) Marchler-Bauer A et al. (2009), "CDD: specific functional annotation with the Conserved Domain Database.", Nucleic Acids Res. 37(D)205-10.

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