Related Experiment Video
Updated: Aug 4, 2026
09:25
Establishment of Cancer Stem Cell Cultures from Human Conventional Osteosarcoma
Published on: October 14, 2016
Genetic sequences that predispose to retinoblastoma and osteosarcoma
T P Dryja1, S Friend, R A Weinberg
1Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Boston 02115.
Symposium on Fundamental Cancer Research
|January 1, 1986
Summary
The retinoblastoma (Rb) gene, located on chromosome 13q14, is crucial for preventing childhood cancer. Deletions in this gene are linked to retinoblastoma and osteosarcoma development.
Area of Science:
- Molecular Biology
- Human Genetics
- Oncology
Background:
- Childhood retinoblastoma is linked to a genetic predisposing factor on human chromosome 13q14.
- A second genetic event, involving the inactivation of the remaining functional allele in 13q14, is necessary for disease development.
Purpose of the Study:
- To isolate and characterize the retinoblastoma (Rb) gene located within the 13q14 region.
- To investigate the role of Rb gene alterations in retinoblastoma and osteosarcoma.
Main Methods:
- Construction of a lambda-phage library from human chromosome 13 fragments.
- Screening of the library using probes (H3-8, p7H30.7R, p4.7R) to identify deleted or altered DNA fragments.
- RNA and DNA analysis of tumor samples (retinoblastoma, osteosarcoma) and cell lines.
Main Results:
- Isolation of the Rb gene within 13q14.
- Identification of a 1.8-kb HindIII fragment deletion in 2 of 37 retinoblastoma tumors.
- Detection of gross genomic structure changes in approximately 30% of retinoblastoma and osteosarcoma tumor DNAs, with deletions mapping within the Rb gene locus.
Conclusions:
- The Rb gene is the target of inactivation in retinoblastoma and potentially osteosarcoma.
- Alterations, including deletions, within the Rb gene are critical events in the pathogenesis of these cancers.
- The identified probes and methods are valuable tools for studying Rb gene function and associated malignancies.
Related Concept Videos
01:33Cancer-Critical Genes I: Proto-oncogenes
Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
01:05Cancer-Critical Genes II: Tumor Suppressor Genes
Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
01:03Rous Sarcoma Virus (RSV) and Cancer
Rous Sarcoma virus or RSV was discovered by F. Peyton Rous in the year 1911 as a filterable transmissible agent that could cause tumors in chickens. He won a Nobel Prize for this discovery in 1966. His experiments clearly demonstrated that some cancers could be caused by infectious agents and led to the discovery of many more cancer-causing viruses in animals as well as humans.
RSV is a retrovirus that contains two copies of a plus-strand RNA genome. Its genome consists of four main open...
RSV is a retrovirus that contains two copies of a plus-strand RNA genome. Its genome consists of four main open...
01:20The Retinoblastoma Gene
Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
01:20The Retinoblastoma Gene
Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
01:03Rous Sarcoma Virus (RSV) and Cancer
Rous Sarcoma virus or RSV was discovered by F. Peyton Rous in the year 1911 as a filterable transmissible agent that could cause tumors in chickens. He won a Nobel Prize for this discovery in 1966. His experiments clearly demonstrated that some cancers could be caused by infectious agents and led to the discovery of many more cancer-causing viruses in animals as well as humans.
RSV is a retrovirus that contains two copies of a plus-strand RNA genome. Its genome consists of four main open...
RSV is a retrovirus that contains two copies of a plus-strand RNA genome. Its genome consists of four main open...