TSgenes - Cancer Phenotype is Recessive Retinoblastoma...

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Unformatted text preview: Cancer Phenotype is Recessive Retinoblastoma Retinoblastoma Unilateral RB-single eye Bilateral RB-both eyes Mutations occur de novo during the formation of sperm or egg Retinoblastoma Dynamics of RB formation Because only one somatic mutation need in familial cases, However, two somatic mutations are required in unilateral case of RB RB is because of LOH Inactivation of TS gene by LOH Mechanisms of LOH: 1) Deletion of the normal allele; the chromosome arm containing the normal allele; the entire chromosome containing the normal allele (resulting in aneuploidy). 2) In females, X-inactivation of the X chromosome carrying the normal allele. Exp: WTX ( W ilms T umor due to X-inactivation) 3) gene conversion 4) Mitotic recombination. .resulting cancer Chromosome del. leads to Rb Mitotic recombination leads to LOH Gene conversion leads to Rb Gene conversion is an event in DNA genetic recombination , which occurs at high frequencies during meiotic division but which also occurs in somatic cells. It is a process by which DNA sequence information is transferred from one DNA helix (which remains unchanged) to another DNA helix, whose sequence is altered. It is one of the ways a gene may be mutated. Gene conversion may lead to non-Mendelian inheritance What is the mol mechanism for Rb development ? Rb action in cell cycle Rb is : 120 kDa phosphoprotein; regulated by phosphorylation; E2F repressor Rb pathway Cell cycle arrest Any other Tumor suppressor genes are present in the cell other than Rb and p53 ?other than Rb and p53 ?...
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This note was uploaded on 10/07/2010 for the course DBT 456 taught by Professor Ss during the Spring '10 term at Indian Institute of Technology, Guwahati.

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TSgenes - Cancer Phenotype is Recessive Retinoblastoma...

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