Infrequent genomic rearrangement and normal expression of the putative RB1 gene in retinoblastoma tumors
Retinoblastoma (RB) tumors develop when both alleles of a gene (RB1) are mutated and unable to function normally. Recently, others reported the cloning of a gene, 4.7R, with some properties expected for the RB1 gene, namely, a high frequency (30%) of genomic rearrangements in tumors and absence of message in all RB tumors examined. To extend the characterization of this gene, the authors used 4.7R probes to search for genomic rearrangements of DNA and to study the expression of the 4.7R gene in RB tumors, osteosarcoma (OS) tumors arising in RB patients, and other normal and malignant tissues. In 34 previously unreported RB and OS tumors arising in RB patients, the authors observed only four (12%) with genomic abnormalities. Transcripts of 4.7R were present in 12 of 17 RB tumors, 2 of 2 OS tumors, and all non-RB tumors and normal tissues tested. They were unable to confirm the high frequency of truncated messages of 4.7R in RB tumors reported by others, but did not confirm the presence of a truncated transcription in the RB cell line Y79. Of the RB and RB-related OS tumors which appeared normal on Southern blots, 2 of 16 or 12% had abnormal transcripts, giving a combined frequency of 22% abnormalities in the 4.7R gene detectable by Southern and Northern (RNA) blot analyses.
- Research Organization:
- Univ. of Toronto and The Hospital for Sick Children Research Institute, 555 University Avenue, Toronto, Ontario (CA)
- OSTI ID:
- 6945105
- Journal Information:
- Mol. Cell. Biol.; (United States), Vol. 8:5
- Country of Publication:
- United States
- Language:
- English
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Related Subjects
ONCOGENES
DNA-CLONING
RETINA
NEOPLASMS
TRANSCRIPTION
GENETIC CONTROL
BIOLOGICAL PATHWAYS
CHROMOSOMAL ABERRATIONS
DNA SEQUENCING
MOLECULAR BIOLOGY
OSTEOSARCOMAS
PHENOTYPE
TECHNOLOGY ASSESSMENT
BODY
BODY AREAS
CLONING
CONTROL
DISEASES
EYES
FACE
GENES
HEAD
MUTATIONS
ORGANS
PEST CONTROL
SARCOMAS
SENSE ORGANS
SKELETAL DISEASES
STRUCTURAL CHEMICAL ANALYSIS
550400* - Genetics