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  • 1
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    Perforin gene defects in familial hemophagocytic lymphohistiocytosis (1999)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 1999-12-03
    Description: Familial hemophagocytic lymphohistiocytosis (FHL) is a rare, rapidly fatal, autosomal recessive immune disorder characterized by uncontrolled activation of T cells and macrophages and overproduction of inflammatory cytokines. Linkage analyses indicate that FHL is genetically heterogeneous and linked to 9q21.3-22, 10q21-22, or another as yet undefined locus. Sequencing of the coding regions of the perforin gene of eight unrelated 10q21-22-linked FHL patients revealed homozygous nonsense mutations in four patients and missense mutations in the other four patients. Cultured lymphocytes from patients had defective cytotoxic activity, and immunostaining revealed little or no perforin in the granules. Thus, defects in perforin are responsible for 10q21-22-linked FHL. Perforin-based effector systems are, therefore, involved not only in the lysis of abnormal cells but also in the down-regulation of cellular immune activation.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Stepp, S E -- Dufourcq-Lagelouse, R -- Le Deist, F -- Bhawan, S -- Certain, S -- Mathew, P A -- Henter, J I -- Bennett, M -- Fischer, A -- de Saint Basile, G -- Kumar, V -- New York, N.Y. -- Science. 1999 Dec 3;286(5446):1957-9.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Pathology and the Graduate Program in Immunology, University of Texas Southwestern Medical School, Dallas, TX 75235, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/10583959" target="_blank"〉PubMed〈/a〉
    Keywords: Antigen-Presenting Cells/immunology ; Cell Death ; Cell Line ; Cells, Cultured ; Chromosome Mapping ; Chromosomes, Human, Pair 10/*genetics ; Codon, Terminator ; Cytoplasmic Granules/chemistry ; Cytotoxicity, Immunologic ; Frameshift Mutation ; Genetic Linkage ; Granzymes ; Heterozygote ; Histiocytosis, Non-Langerhans-Cell/*genetics/immunology ; Humans ; Lymphocyte Activation ; Membrane Glycoproteins/analysis/*genetics/physiology ; Mutation, Missense ; Perforin ; Point Mutation ; Pore Forming Cytotoxic Proteins ; Serine Endopeptidases/analysis ; T-Lymphocytes, Cytotoxic/chemistry/immunology
    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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    Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34 (1997)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 1997-08-08
    Description: Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by the widespread development of distinctive tumors termed hamartomas. TSC-determining loci have been mapped to chromosomes 9q34 (TSC1) and 16p13 (TSC2). The TSC1 gene was identified from a 900-kilobase region containing at least 30 genes. The 8.6-kilobase TSC1 transcript is widely expressed and encodes a protein of 130 kilodaltons (hamartin) that has homology to a putative yeast protein of unknown function. Thirty-two distinct mutations were identified in TSC1, 30 of which were truncating, and a single mutation (2105delAAAG) was seen in six apparently unrelated patients. In one of these six, a somatic mutation in the wild-type allele was found in a TSC-associated renal carcinoma, which suggests that hamartin acts as a tumor suppressor.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉van Slegtenhorst, M -- de Hoogt, R -- Hermans, C -- Nellist, M -- Janssen, B -- Verhoef, S -- Lindhout, D -- van den Ouweland, A -- Halley, D -- Young, J -- Burley, M -- Jeremiah, S -- Woodward, K -- Nahmias, J -- Fox, M -- Ekong, R -- Osborne, J -- Wolfe, J -- Povey, S -- Snell, R G -- Cheadle, J P -- Jones, A C -- Tachataki, M -- Ravine, D -- Sampson, J R -- Reeve, M P -- Richardson, P -- Wilmer, F -- Munro, C -- Hawkins, T L -- Sepp, T -- Ali, J B -- Ward, S -- Green, A J -- Yates, J R -- Kwiatkowska, J -- Henske, E P -- Short, M P -- Haines, J H -- Jozwiak, S -- Kwiatkowski, D J -- New York, N.Y. -- Science. 1997 Aug 8;277(5327):805-8.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Clinical Genetics, Erasmus University and University Hospital, Rotterdam, Netherlands.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/9242607" target="_blank"〉PubMed〈/a〉
    Keywords: Amino Acid Sequence ; Chromosome Mapping ; Chromosomes, Human, Pair 9/*genetics ; Exons ; *Genes, Tumor Suppressor ; Humans ; Microsatellite Repeats ; Molecular Sequence Data ; Molecular Weight ; Mutation ; Polymerase Chain Reaction ; Proteins/chemistry/*genetics/physiology ; Repressor Proteins/genetics/physiology ; Tuberous Sclerosis/*genetics ; Tumor Suppressor Proteins
    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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  • 3
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    Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1) (1996)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 1996-03-22
    Description: Progressive myoclonus epilepsy of the Unverricht-Lundborg type (EPM1) is an autosomal recessive inherited form of epilepsy, previously linked to human chromosome 21q22.3. The gene encoding cystatin B was shown to be localized to this region, and levels of messenger RNA encoded by this gene were found to be decreased in cells from affected individuals. Two mutations, a 3' splice site mutation and a stop codon mutation, were identified in the gene encoding cystatin B in EPM1 patients but were not present in unaffected individuals. These results provide evidence that mutations in the gene encoding cystatin B are responsible for the primary defect in patients with EPM1.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Pennacchio, L A -- Lehesjoki, A E -- Stone, N E -- Willour, V L -- Virtaneva, K -- Miao, J -- D'Amato, E -- Ramirez, L -- Faham, M -- Koskiniemi, M -- Warrington, J A -- Norio, R -- de la Chapelle, A -- Cox, D R -- Myers, R M -- HD-24610/HD/NICHD NIH HHS/ -- IF32GM17502/GM/NIGMS NIH HHS/ -- P50 HG-00206/HG/NHGRI NIH HHS/ -- etc. -- New York, N.Y. -- Science. 1996 Mar 22;271(5256):1731-4.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Genetics, Stanford University School of Medicine, Standford, CA 94305, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/8596935" target="_blank"〉PubMed〈/a〉
    Keywords: Amino Acid Sequence ; Base Sequence ; Chromosome Mapping ; Chromosomes, Human, Pair 21/*genetics ; Codon, Terminator/genetics ; Cystatin B ; Cystatins/chemistry/*genetics ; Cysteine Proteinase Inhibitors/chemistry/*genetics ; Epilepsies, Myoclonic/*genetics ; Female ; Finland ; Gene Expression ; Genes, Recessive ; Humans ; Introns/genetics ; Linkage Disequilibrium ; Male ; Molecular Sequence Data ; Pedigree ; Point Mutation ; Polymerase Chain Reaction ; RNA, Messenger/genetics/metabolism ; Recombination, 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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  • 4
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    Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4 (1995)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 1995-02-03
    Description: Deafness with fixation of the stapes (DFN3) is the most frequent X-linked form of hearing impairment. The underlying gene has been localized to a 500-kilobase segment of the Xq21 band. Here, it is reported that a candidate gene for this disorder, Brain 4 (POU3F4), which encodes a transcription factor with a POU domain, maps to the same interval. In five unrelated patients with DFN3 but not in 50 normal controls, small mutations were found that result in truncation of the predicted protein or in nonconservative amino acid substitutions. These findings indicate that POU3F4 mutations are a molecular cause of DFN3.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉de Kok, Y J -- van der Maarel, S M -- Bitner-Glindzicz, M -- Huber, I -- Monaco, A P -- Malcolm, S -- Pembrey, M E -- Ropers, H H -- Cremers, F P -- New York, N.Y. -- Science. 1995 Feb 3;267(5198):685-8.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Human Genetics, University Hospital Nijmegen, Netherlands.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/7839145" target="_blank"〉PubMed〈/a〉
    Keywords: Amino Acid Sequence ; Base Sequence ; Chromosome Mapping ; DNA Mutational Analysis ; Deafness/*genetics ; Female ; Genetic Linkage ; Humans ; Male ; Molecular Sequence Data ; Mutation ; POU Domain Factors ; Pedigree ; Point Mutation ; Polymerase Chain Reaction ; Sequence Deletion ; Transcription Factors/chemistry/*genetics ; *X Chromosome
    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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  • 5
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    Oncogene from human EJ bladder carcinoma is located on the short arm of chromosome 11 (1983)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 1983-02-04
    Description: The human cellular homolog of the transforming DNA sequence isolated from the bladder carcinoma cell line EJ was localized on the short arm of human chromosome 11 by Southern blot analysis of human-rodent hybrid cell DNA. This locus contains human sequences homologous to the Harvey murine sarcoma virus v-Ha-ras oncogene.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉de Martinville, B -- Giacalone, J -- Shih, C -- Weinberg, R A -- Francke, U -- New York, N.Y. -- Science. 1983 Feb 4;219(4584):498-501.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/6297001" target="_blank"〉PubMed〈/a〉
    Keywords: Cell Line ; Chromosome Mapping ; *Chromosomes, Human, 6-12 and X ; DNA Restriction Enzymes ; Humans ; Hybrid Cells ; Nucleic Acid Hybridization ; *Oncogenes ; Urinary Bladder Neoplasms/*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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  • 6
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    The human gene for the beta subunit of nerve growth factor is located on the proximal short arm of chromosome 1 (1983)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 1983-12-16
    Description: Fragments of the recently cloned human gene for the beta subunit of nerve growth factor (beta-NGF) were used as hybridization probes in analyzing two sets of rodent-human somatic cell hybrids for the presence of human beta-NGF sequences. Results from the first set of hybrids assigned the human beta-NGF gene to chromosome 1 and ruled out the presence of sequences of comparable homology on any other chromosome. With the second set of hybrids, which contained seven different, but overlapping, regions of chromosome 1, the NGF locus was mapped to band 1p22.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Francke, U -- de Martinville, B -- Coussens, L -- Ullrich, A -- GM 26105/GM/NIGMS NIH HHS/ -- New York, N.Y. -- Science. 1983 Dec 16;222(4629):1248-51.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/6648531" target="_blank"〉PubMed〈/a〉
    Keywords: Animals ; Chromosome Banding ; Chromosome Mapping ; *Chromosomes, Human, 1-3 ; Cricetinae ; *Genes ; Humans ; Hybrid Cells ; Nerve Growth Factors/*genetics ; Nucleic Acid Hybridization ; Oncogenes
    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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