Retinoblastoma
RB1 tumor suppressor gene
RB1 tumor suppressor gene
Familial Retinoblastoma
germline mutation
another synthetic lethal target
"Trilateral" - the occurrence of bilateral RB plus a pinealoma
RB1 allele
multiple retinoblastoma
In this study, we define a minimal genomic region associated with this low penetrance
Genomic Region
MED4
a subunit of the mediator
complex.
RB1 -/-
in vivo orthotopic xenograft models
in vitro
survival gene in retinoblastoma
Cell survival genes identified. By switching off, one by one, almost 18,000 genes — about 90 per cent of the entire human genome — scientists have identified the genes that are essential for cell survival. This could improve our understanding of which genes are most important in diseases like cance
It represents the most common pediatric intraocular neoplasm, which in virtually every case results from the inactivation
of both alleles of the RB1 tumor suppressor gene in the developing retina
mutation in RB1
single retinal cell
Hereditary Rb
RB1
tumour suppressor gene
orthotopic
Tissue or organ grafts may be transplanted to their normal situation in the recipient and are then known as orthotopic—for example, skin to the surface of the body.
xenografts
Grafts between individuals of different species—xenografts or heterografts—are usually destroyed very quickly by the recipient
predisposition to Rb
Tumour Development
second somatic inactivating mutation
prevents premature entry into S phase
helps regulate cell cycle
RB1 defective
Multiple tumors arising in an individual patient with inherited retinoblastoma all were found to contain the same germ line mutation but had different somatic mutations affecting the remaining RB1 allele
half the protein is not produced
still enough for cell functoin
Each Cell has one fxnl copy
LOH of RB1 gene
wt allele
normal function
if only functional copy mutate and no longer works
Loss of Heterozygosity
disease allele
3A
Subtopic
Subtopic