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  • 1
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    Structural rearrangement of the retinoblastoma gene in human breast carcinoma (1988)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 1988-10-14
    Description: Structural changes of the human retinoblastoma gene have been demonstrated previously in retinoblastoma and some clinically related tumors including osteosarcoma. Structural aberrations of the retinoblastoma locus (RB1) were observed in 25% of breast tumor cell lines studied and 7% of the primary tumors. These changes include homozygous internal deletions and total deletion of RB1; a duplication of an exon was observed in one of the cell lines. In all cases, structural changes either resulted in the absence or truncation of the RB1 transcript. No obvious defect in RB1 was detected by DNA blot analysis in primary tumors or cell lines from Wilms' tumor, cervical carcinoma, or hepatoma. These results further support the concept that the human RB1 gene has pleiotropic effects on specific types of cancer.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉T'Ang, A -- Varley, J M -- Chakraborty, S -- Murphree, A L -- Fung, Y K -- CA44754/CA/NCI NIH HHS/ -- New York, N.Y. -- Science. 1988 Oct 14;242(4876):263-6.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Division of Hematology/Oncology, Childrens Hospital of Los Angeles, CA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/3175651" target="_blank"〉PubMed〈/a〉
    Keywords: Breast Neoplasms/*genetics ; Chromosome Aberrations ; Chromosomes, Human, Pair 13 ; DNA/genetics ; DNA Probes ; Exons ; Eye Neoplasms/*genetics ; Female ; *Gene Rearrangement ; Homozygote ; Humans ; Lymphatic Metastasis ; Menopause ; Mutation ; Nucleic Acid Hybridization ; Retinoblastoma/*genetics ; Risk Factors ; Tumor Cells, Cultured
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
    Published by American Association for the Advancement of Science (AAAS)
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  • 2
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    Cell cycle-dependent regulation of phosphorylation of the human retinoblastoma gene product (1989)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 1989-12-08
    Description: The human retinoblastoma gene (RB1) encodes a protein (Rb) of 105 kilodaltons that can be phosphorylated. Analysis of Rb metabolism has shown that the protein has a half-life of more than 10 hours and is synthesized at all phases of the cell cycle. Newly synthesized Rb is not extensively phosphorylated (it is "underphosphorylated") in cells in the G0 and G1 phases but is phosphorylated at multiple sites at the G1/S boundary and in S phase. HL-60 cells that were induced to terminally differentiate by various chemicals lost their ability to phosphorylate newly synthesized Rb at multiple sites when cell growth was arrested. These findings suggest that underphosphorylated Rb may restrict cell proliferation.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Mihara, K -- Cao, X R -- Yen, A -- Chandler, S -- Driscoll, B -- Murphree, A L -- T'Ang, A -- Fung, Y K -- 5P30CA14089/CA/NCI NIH HHS/ -- CA 44754/CA/NCI NIH HHS/ -- EY 07846/EY/NEI NIH HHS/ -- etc. -- New York, N.Y. -- Science. 1989 Dec 8;246(4935):1300-3.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Division of Hematology/Oncology and Ophthalmology, Childrens Hospital of Los Angeles, CA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/2588006" target="_blank"〉PubMed〈/a〉
    Keywords: Cell Cycle/*genetics ; Cell Division/drug effects/genetics ; Eye Neoplasms/genetics ; *Gene Expression Regulation, Neoplastic ; Humans ; Interphase/genetics ; Neoplasm Proteins/genetics/*metabolism ; Phosphorylation ; Protein Processing, Post-Translational/drug effects/*genetics ; Retinoblastoma/*genetics ; Tretinoin/pharmacology ; Tumor Cells, Cultured
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
    Published by American Association for the Advancement of Science (AAAS)
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  • 3
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    Regional assignment of genes for human esterase D and retinoblastoma to chromosome band 13q14 (1980)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 1980-05-30
    Description: The expression of human esterase D was evaluated quantitatively and qualitatively in five persons with partial deletions or duplications of chromosome 13. The results showed that the locus of this enzyme is at band 13q14. Deletion of this same band in other subjects has been found previously to indicate a predisposition to the development of retinoblastoma, which was present in the four individuals in this study who had partial deletions of chromosome 13. Because of this close synteny, esterase D evaluation should aid in the diagnosis and genetic counseling of retinoblastoma.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Sparkes, R S -- Sparkes, M C -- Wilson, M G -- Towner, J W -- Benedict, W -- Murphree, A L -- Yunis, J J -- New York, N.Y. -- Science. 1980 May 30;208(4447):1042-4.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/7375916" target="_blank"〉PubMed〈/a〉
    Keywords: Chromosome Deletion ; Chromosome Mapping ; *Chromosomes, Human, 13-15 ; Esterases/*genetics ; Female ; Genes ; Humans ; Intellectual Disability/enzymology/genetics ; Male ; Retinoblastoma/enzymology/*genetics
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
    Published by American Association for the Advancement of Science (AAAS)
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  • 4
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    Gene for hereditary retinoblastoma assigned to human chromosome 13 by linkage to esterase D (1983)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 1983-02-25
    Description: Evaluation of three families with hereditary retinoblastoma demonstrates close linkage of the gene for this tumor with the genetic locus for esterase D. These results assign the gene for the hereditary form of retinoblastoma to band q14 on chromosome 13, the same region which is affected in the chromosome deletion form of this eye tumor, and therefore suggest a common underlying mechanism in the pathogenesis of these two forms of retinoblastoma.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Sparkes, R S -- Murphree, A L -- Lingua, R W -- Sparkes, M C -- Field, L L -- Funderburk, S J -- Benedict, W F -- EY-02715/EY/NEI NIH HHS/ -- HD-04612/HD/NICHD NIH HHS/ -- HD-05615/HD/NICHD NIH HHS/ -- New York, N.Y. -- Science. 1983 Feb 25;219(4587):971-3.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/6823558" target="_blank"〉PubMed〈/a〉
    Keywords: Chromosome Deletion ; Chromosome Mapping ; *Chromosomes, Human, 13-15 ; Esterases/genetics ; Genetic Linkage ; Humans ; Retinoblastoma/*genetics
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
    Published by American Association for the Advancement of Science (AAAS)
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  • 5
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    Retinoblastoma: clues to human oncogenesis (1984)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 1984-03-09
    Description: The retinoblastoma gene can be considered a model for a class of recessive human cancer genes that have a "suppressor" or "regulatory" function. The loss or inactivation of both alleles of this gene appears to be a primary mechanism in the development of retinoblastoma. Such a mechanism is in direct contrast to that of putative human oncogenes which are thought to induce tumorigenesis following activation or alteration. The high incidence of second primary tumors among patients who inherit one inactive retinoblastoma allele also suggests that this cancer gene plays a key role in the etiology of several other primary malignancies. Finally, the observation that extra nonrandom copies of specific chromosomal regions occur in some of these tumors provides circumstantial evidence that an "expressor" gene (possibly an oncogene) may be involved in retinoblastoma development.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Murphree, A L -- Benedict, W F -- EY-02715/EY/NEI NIH HHS/ -- New York, N.Y. -- Science. 1984 Mar 9;223(4640):1028-33.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/6320372" target="_blank"〉PubMed〈/a〉
    Keywords: Adenocarcinoma/genetics ; Alleles ; Child ; Chromosome Deletion ; Chromosome Mapping ; Chromosomes, Human, 13-15 ; Chromosomes, Human, 6-12 and X ; Eye Neoplasms/*genetics ; Genes, Recessive ; Genotype ; Humans ; Kidney Neoplasms/genetics ; Mutation ; Neuroblastoma/genetics ; *Oncogenes ; Polymorphism, Genetic ; Retinoblastoma/*genetics ; *Suppression, Genetic ; Translocation, Genetic ; Wilms Tumor/genetics
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
    Published by American Association for the Advancement of Science (AAAS)
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  • 6
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    Patient with 13 chromosome deletion: evidence that the retinoblastoma gene is a recessive cancer gene (1983)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 1983-02-25
    Description: Although a constitutional chromosomal deletion including 13q14 has been found to date in all retinoblastoma patients whose esterase D activity is 50 percent of normal, one female patient has been found who has 50 percent esterase D activity in all normal cells examined but no deletion of 13q14 at the 550-band level. Therefore, she has the smallest constitutional chromosomal deletion within 13q14 that is associated with susceptibility to retinoblastoma. Two stem lines were identified in a retinoblastoma from this patient, and each one had a missing 13 chromosome. No detectable esterase D activity was found in the tumor, indicating that the normal nondeleted 13 chromosome was lost in both stem lines. Thus the data from this patient not only show that there is a total loss of genetic information at the location of the retinoblastoma gene within the tumor, but also imply that recessive genes may play an important role in the development of certain human tumors including retinoblastoma.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Benedict, W F -- Murphree, A L -- Banerjee, A -- Spina, C A -- Sparkes, M C -- Sparkes, R S -- EY-02715/EY/NEI NIH HHS/ -- New York, N.Y. -- Science. 1983 Feb 25;219(4587):973-5.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/6336308" target="_blank"〉PubMed〈/a〉
    Keywords: Child, Preschool ; Chromosome Deletion ; *Chromosomes, Human, 13-15 ; DNA, Neoplasm/genetics ; Female ; Genes, Recessive ; Humans ; Karyotyping ; Retinoblastoma/*genetics
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
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  • 7
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    Structural evidence for the authenticity of the human retinoblastoma gene (1987)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 1987-06-26
    Description: The retinoblastoma (Rb) gene is the prototype for a class of recessive human cancer genes in which loss of activity of both normal alleles is thought to be associated with tumorigenesis. Sixteen of 40 retinoblastomas examined with a complementary DNA probe shown to be the Rb gene had identifiable structural changes of the Rb gene including in some cases homozygous internal deletions with corresponding truncated transcripts. An osteosarcoma also had a homozygous internal deletion with a truncated transcript. In addition, possible hot spots for deletion were identified within the Rb genomic locus. Among those tumors with no identifiable structural changes there was either absence of an Rb transcript or abnormal expression of the Rb transcript. Comparison of the structural changes in the tumor cells and fibroblasts of certain patients provided support for Knudson's two-hit hypothesis for the development of retinoblastoma at the molecular level. The ability to detect germline structural deletions in fibroblasts from some patients with bilateral retinoblastoma also indicates that the isolated gene is useful for diagnostic purposes.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Fung, Y K -- Murphree, A L -- T'Ang, A -- Qian, J -- Hinrichs, S H -- Benedict, W F -- EY02715/EY/NEI NIH HHS/ -- EY0619502/EY/NEI NIH HHS/ -- New York, N.Y. -- Science. 1987 Jun 26;236(4809):1657-61.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/2885916" target="_blank"〉PubMed〈/a〉
    Keywords: Alleles ; Animals ; Chromosome Deletion ; *Chromosome Mapping ; Cloning, Molecular ; Cricetinae ; Dna ; DNA Restriction Enzymes ; DNA, Neoplasm/analysis ; Eye Neoplasms/*genetics ; Fibroblasts/ultrastructure ; Genotype ; Humans ; Nucleic Acid Hybridization ; Osteosarcoma/genetics ; Polymorphism, Restriction Fragment Length ; Retinoblastoma/*genetics ; Transcription, Genetic
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
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  • 8
    Electronic Resource
    Electronic Resource
    Putative non-Mendelian transmission of retinoblastoma in males: a phenotypic segregation analysis of 150 pedigrees (1994)
    Springer
    Human genetics 〈Berlin〉 94 (1994), S. 484-490 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract In a previous genotypic study of eight families, we discribed paternal segregation distortion favoring the transmission of mutant alleles at the retinoblastoma gene locus (RB1). In the current study, we reviewed all published retinoblastoma pedigrees with defined ascertainment (n = 150), to determine whether the phenotypic segregation frequency at the RB1 locus is in general influenced by the sex of the transmitting parent. Segregation analysis under complete ascertainment revealed that 49.1% of the offspring of male transmitters were affected, while 44.3% of the offspring of female transmitters were affected. While this difference is not statistically significant, it is consistent with the previous findings. No significant sex distortion could be detected among the progeny of carrier fathers and mothers. In order to quantify the transmission ratio more precisely further prospective molecular genetic analysis is warranted. We propose a biological mechanism to account for a putative segregation distortion, namely that genetic recombination creates clones of spermatogonia that are homozygous for the mutant RB1 allele leading to a non-Mendelian ratio of sperm. This model can be experimentally tested using amplification of DNA from single sperm cells.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00211012
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  • 9
    Electronic Resource
    Electronic Resource
    Expression of recessive alleles by chromosomal mechanisms in retinoblastoma (1983)
    [s.l.] : Nature Publishing Group
    Nature 305 (1983), S. 779-784 
    Details
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] Inheritance of a mutation at the Rb-1 locus, which has been mapped to band q14 of human chromosome 13, results in predisposition to retinoblastoma. Cloned DNA segments homologous to arbitrary loci of human chromosome 13 and which reveal polymorphic restriction endonuclease recognition sequences, ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/305779a0
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  • 10
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    Erratum: Expression and amplification of the N-myc gene in primary retinoblastoma (1984)
    Springer Nature
    Details
    Publication Date: 1984-06-01
    Print ISSN: 0028-0836
    Electronic ISSN: 1476-4687
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Published by Springer Nature
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