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Carlos Lopezlarrea - One of the best experts on this subject based on the ideXlab platform.

  • dna polymorphisms and linkage relationship of the human Complement Component C6 c7 and c9 genes
    Immunogenetics, 1991
    Co-Authors: Eliecer Coto, R G Discipio, Eduardo Martineznaves, Orlando Dominguez, Josh M Urra, Carlos Lopezlarrea
    Abstract:

    In this report we describe the linkage between genes encoding human Complement ComponentsC6,C7, andC9. Polymorphisms have been described at the DNA level for theC7 andC9 genes. We have studied 20 individuals by Southern blot analysis with fourC6 cDNA subclones to detect restriction fragment length polymorphisms (RFLPs). We have found a Taq I polymorphism defined by two alleles of 8.0 (C6 H) and 6.0 (C6 L) kilobases (kb). RFLP segregation for theC6, C7, andC9 loci in informative families allowed us to estimate the maximum Lod scores at a recombination fraction of Φ=0.0 (C6–C7), Φ=0.0 (C7–C9), and Φ=0.0 (C6–C9). Significant linkage disequilibrium was found betweenC6 andC7 and betweenC7 andC9 loci in directly determined haplotypes of unrelated parents. Data from this study show that the genes encoding the human terminal Complement ComponentsC6, C7, andC9 define a cluster in the short arm of chromosome 5. We propose that the clusters involving theC8A andC8B and theC6, C7, andC9 genes be referred to as MACI and MACH, respectively.

  • dna polymorphisms and linkage relationship of the human Complement Component C6 c7 and c9 genes
    Immunogenetics, 1991
    Co-Authors: Eliecer Coto, Eduardo Martineznaves, Orlando Dominguez, Josh M Urra, R G Discipio, Carlos Lopezlarrea
    Abstract:

    In this report we describe the linkage between genes encoding human Complement Components C6, C7, and C9. Polymorphisms have been described at the DNA level for the C7 and C9 genes. We have studied 20 individuals by Southern blot analysis with four C6 cDNA subclones to detect restriction fragment length polymorphisms (RFLPs). We have found a Taq I polymorphism defined by two alleles of 8.0 (C6 H) and 6.0 (C6 L) kilobases (kb). RFLP segregation for the C6, C7, and C9 loci in informative families allowed us to estimate the maximum Lod scores at a recombination fraction of theta = 0.0 (C6-C7), theta = 0.0 (C7-C9), and theta = 0.0 (C6-C9). Significant linkage disequilibrium was found between C6 and C7 and between C7 and C9 loci in directly determined haplotypes of unrelated parents. Data from this study show that the genes encoding the human terminal Complement Components C6, C7, and C9 define a cluster in the short arm of chromosome 5. We propose that the clusters involving the C8A and C8B and the C6, C7, and C9 genes be referred to as MACI and MACII, respectively.

Eliecer Coto - One of the best experts on this subject based on the ideXlab platform.

  • A physical map of the human Complement Component C6, C7, and C9 genes
    Immunogenetics, 1993
    Co-Authors: Fernando Setién, R G Discipio, Victoria Alvarez, Eliecer Coto, Carlos López-larrea
    Abstract:

    The genes for human Complement Components C6 , C7 , and C9 are linked on chromosome 5. In this report we describe the physical linkage between C6 and C7 genes. DNA fragments obtained by digestion with several rare-cutting restriction enzymes were separated through pulsed field gel electrophoresis. Hybridization with probes corresponding to the 5' and 3' ends of the three cDNAs showed common bands for the C6 and C7 genes. Both genes are contained in a Not I fragment of 500 kilobases (kb). Moreover, the presence of common 3' C6 and 3' C7 fragments indicates that both genes are oriented in a tail-to-tail, reverse way relative to transcription. No evidence of physical linkage between C9 and C6 or C7 was found in the range 50 kb–2.5 megabases (Mb).

  • dna polymorphisms and linkage relationship of the human Complement Component C6 c7 and c9 genes
    Immunogenetics, 1991
    Co-Authors: Eliecer Coto, R G Discipio, Eduardo Martineznaves, Orlando Dominguez, Josh M Urra, Carlos Lopezlarrea
    Abstract:

    In this report we describe the linkage between genes encoding human Complement ComponentsC6,C7, andC9. Polymorphisms have been described at the DNA level for theC7 andC9 genes. We have studied 20 individuals by Southern blot analysis with fourC6 cDNA subclones to detect restriction fragment length polymorphisms (RFLPs). We have found a Taq I polymorphism defined by two alleles of 8.0 (C6 H) and 6.0 (C6 L) kilobases (kb). RFLP segregation for theC6, C7, andC9 loci in informative families allowed us to estimate the maximum Lod scores at a recombination fraction of Φ=0.0 (C6–C7), Φ=0.0 (C7–C9), and Φ=0.0 (C6–C9). Significant linkage disequilibrium was found betweenC6 andC7 and betweenC7 andC9 loci in directly determined haplotypes of unrelated parents. Data from this study show that the genes encoding the human terminal Complement ComponentsC6, C7, andC9 define a cluster in the short arm of chromosome 5. We propose that the clusters involving theC8A andC8B and theC6, C7, andC9 genes be referred to as MACI and MACH, respectively.

  • dna polymorphisms and linkage relationship of the human Complement Component C6 c7 and c9 genes
    Immunogenetics, 1991
    Co-Authors: Eliecer Coto, Eduardo Martineznaves, Orlando Dominguez, Josh M Urra, R G Discipio, Carlos Lopezlarrea
    Abstract:

    In this report we describe the linkage between genes encoding human Complement Components C6, C7, and C9. Polymorphisms have been described at the DNA level for the C7 and C9 genes. We have studied 20 individuals by Southern blot analysis with four C6 cDNA subclones to detect restriction fragment length polymorphisms (RFLPs). We have found a Taq I polymorphism defined by two alleles of 8.0 (C6 H) and 6.0 (C6 L) kilobases (kb). RFLP segregation for the C6, C7, and C9 loci in informative families allowed us to estimate the maximum Lod scores at a recombination fraction of theta = 0.0 (C6-C7), theta = 0.0 (C7-C9), and theta = 0.0 (C6-C9). Significant linkage disequilibrium was found between C6 and C7 and between C7 and C9 loci in directly determined haplotypes of unrelated parents. Data from this study show that the genes encoding the human terminal Complement Components C6, C7, and C9 define a cluster in the short arm of chromosome 5. We propose that the clusters involving the C8A and C8B and the C6, C7, and C9 genes be referred to as MACI and MACII, respectively.

R G Discipio - One of the best experts on this subject based on the ideXlab platform.

  • function of the factor i modules fims of human Complement Component C6
    Journal of Biological Chemistry, 1999
    Co-Authors: R G Discipio, Stuart M Linton, N K Rushmere
    Abstract:

    Abstract In order to elucidate the function of Complement Component C6, truncated C6 molecules were expressed recombinantly. These were either deleted of the factor I modules (FIMs) (C6des-748–913) or both Complement control protein (CCP) modules and FIMs (C6des-611–913). C6des-748–913 exhibited approximately 60–70% of the hemolytic activity of full-length C6 when assayed for Alternative Pathway activity, but when measured for the Classical Pathway, C6des-748–914 was only 4–6% as effective as C6. The activity difference between C6 and C6des-748–913 for the two Complement pathways can be explained by a greater stability of newly formed metastable C5b* when produced by the Alternative Pathway compared with that made by the Classical Pathway. The half-lives of metastable C5b* and the decay of 125I-C5b measured from cells used to activate the Alternative Pathway were found to be about 5–12-fold longer than those same parameters derived from cells that had activated the Classical Pathway. 125I-C5 binds reversibly to C6 in an ionic strength-dependent fashion, but 125I-C5 binds only weakly to C6des-FIMs and not at all to C6des-CCP/FIMs. Therefore, although the FIMs are not required absolutely for C6 activity, these modules promote interaction of C6 with C5 enabling a more efficient bimolecular coupling ultimately leading to the formation of the C5b-6 complex.

  • Elucidation of the disulfide-bonding pattern in the factor I modules of the sixth Component (C6) of human Complement
    Biochimica et biophysica acta, 1997
    Co-Authors: Stephan Lengweiler, R G Discipio, Johann Schaller, Egon E. Rickli
    Abstract:

    Complement Component C6 is known to contain two factor I modules in tandem at its C-terminus. To localize the disulfide bridges in those domains, native C6 was cleaved with trypsin, followed by subtilisin. The resulting digests were separated by reversed-phase HPLC, and all of the potential cystine-containing fragments were detected by a fluorescence assay and amino acid composition analyses. Final identification of the disulfide bonds was achieved by Edman degradation of the corresponding peptides. From the data gained a 1-3, 2-9, 4-7, 5-10, 6-8 pattern was determined (Cys752-Cys802, Cys763-Cys780, Cys765-Cys816, Cys772-Cys795, Cys841-Cys852, Cys846-Cys898, Cys859-Cys876, Cys861-Cys911, Cys867-Cys891). These findings are compared with the strongly related Complement Components C7 and factor I.

  • A physical map of the human Complement Component C6, C7, and C9 genes
    Immunogenetics, 1993
    Co-Authors: Fernando Setién, R G Discipio, Victoria Alvarez, Eliecer Coto, Carlos López-larrea
    Abstract:

    The genes for human Complement Components C6 , C7 , and C9 are linked on chromosome 5. In this report we describe the physical linkage between C6 and C7 genes. DNA fragments obtained by digestion with several rare-cutting restriction enzymes were separated through pulsed field gel electrophoresis. Hybridization with probes corresponding to the 5' and 3' ends of the three cDNAs showed common bands for the C6 and C7 genes. Both genes are contained in a Not I fragment of 500 kilobases (kb). Moreover, the presence of common 3' C6 and 3' C7 fragments indicates that both genes are oriented in a tail-to-tail, reverse way relative to transcription. No evidence of physical linkage between C9 and C6 or C7 was found in the range 50 kb–2.5 megabases (Mb).

  • dna polymorphisms and linkage relationship of the human Complement Component C6 c7 and c9 genes
    Immunogenetics, 1991
    Co-Authors: Eliecer Coto, R G Discipio, Eduardo Martineznaves, Orlando Dominguez, Josh M Urra, Carlos Lopezlarrea
    Abstract:

    In this report we describe the linkage between genes encoding human Complement ComponentsC6,C7, andC9. Polymorphisms have been described at the DNA level for theC7 andC9 genes. We have studied 20 individuals by Southern blot analysis with fourC6 cDNA subclones to detect restriction fragment length polymorphisms (RFLPs). We have found a Taq I polymorphism defined by two alleles of 8.0 (C6 H) and 6.0 (C6 L) kilobases (kb). RFLP segregation for theC6, C7, andC9 loci in informative families allowed us to estimate the maximum Lod scores at a recombination fraction of Φ=0.0 (C6–C7), Φ=0.0 (C7–C9), and Φ=0.0 (C6–C9). Significant linkage disequilibrium was found betweenC6 andC7 and betweenC7 andC9 loci in directly determined haplotypes of unrelated parents. Data from this study show that the genes encoding the human terminal Complement ComponentsC6, C7, andC9 define a cluster in the short arm of chromosome 5. We propose that the clusters involving theC8A andC8B and theC6, C7, andC9 genes be referred to as MACI and MACH, respectively.

Eduardo Martineznaves - One of the best experts on this subject based on the ideXlab platform.

  • dna polymorphisms and linkage relationship of the human Complement Component C6 c7 and c9 genes
    Immunogenetics, 1991
    Co-Authors: Eliecer Coto, R G Discipio, Eduardo Martineznaves, Orlando Dominguez, Josh M Urra, Carlos Lopezlarrea
    Abstract:

    In this report we describe the linkage between genes encoding human Complement ComponentsC6,C7, andC9. Polymorphisms have been described at the DNA level for theC7 andC9 genes. We have studied 20 individuals by Southern blot analysis with fourC6 cDNA subclones to detect restriction fragment length polymorphisms (RFLPs). We have found a Taq I polymorphism defined by two alleles of 8.0 (C6 H) and 6.0 (C6 L) kilobases (kb). RFLP segregation for theC6, C7, andC9 loci in informative families allowed us to estimate the maximum Lod scores at a recombination fraction of Φ=0.0 (C6–C7), Φ=0.0 (C7–C9), and Φ=0.0 (C6–C9). Significant linkage disequilibrium was found betweenC6 andC7 and betweenC7 andC9 loci in directly determined haplotypes of unrelated parents. Data from this study show that the genes encoding the human terminal Complement ComponentsC6, C7, andC9 define a cluster in the short arm of chromosome 5. We propose that the clusters involving theC8A andC8B and theC6, C7, andC9 genes be referred to as MACI and MACH, respectively.

  • dna polymorphisms and linkage relationship of the human Complement Component C6 c7 and c9 genes
    Immunogenetics, 1991
    Co-Authors: Eliecer Coto, Eduardo Martineznaves, Orlando Dominguez, Josh M Urra, R G Discipio, Carlos Lopezlarrea
    Abstract:

    In this report we describe the linkage between genes encoding human Complement Components C6, C7, and C9. Polymorphisms have been described at the DNA level for the C7 and C9 genes. We have studied 20 individuals by Southern blot analysis with four C6 cDNA subclones to detect restriction fragment length polymorphisms (RFLPs). We have found a Taq I polymorphism defined by two alleles of 8.0 (C6 H) and 6.0 (C6 L) kilobases (kb). RFLP segregation for the C6, C7, and C9 loci in informative families allowed us to estimate the maximum Lod scores at a recombination fraction of theta = 0.0 (C6-C7), theta = 0.0 (C7-C9), and theta = 0.0 (C6-C9). Significant linkage disequilibrium was found between C6 and C7 and between C7 and C9 loci in directly determined haplotypes of unrelated parents. Data from this study show that the genes encoding the human terminal Complement Components C6, C7, and C9 define a cluster in the short arm of chromosome 5. We propose that the clusters involving the C8A and C8B and the C6, C7, and C9 genes be referred to as MACI and MACII, respectively.

Orlando Dominguez - One of the best experts on this subject based on the ideXlab platform.

  • dna polymorphisms and linkage relationship of the human Complement Component C6 c7 and c9 genes
    Immunogenetics, 1991
    Co-Authors: Eliecer Coto, R G Discipio, Eduardo Martineznaves, Orlando Dominguez, Josh M Urra, Carlos Lopezlarrea
    Abstract:

    In this report we describe the linkage between genes encoding human Complement ComponentsC6,C7, andC9. Polymorphisms have been described at the DNA level for theC7 andC9 genes. We have studied 20 individuals by Southern blot analysis with fourC6 cDNA subclones to detect restriction fragment length polymorphisms (RFLPs). We have found a Taq I polymorphism defined by two alleles of 8.0 (C6 H) and 6.0 (C6 L) kilobases (kb). RFLP segregation for theC6, C7, andC9 loci in informative families allowed us to estimate the maximum Lod scores at a recombination fraction of Φ=0.0 (C6–C7), Φ=0.0 (C7–C9), and Φ=0.0 (C6–C9). Significant linkage disequilibrium was found betweenC6 andC7 and betweenC7 andC9 loci in directly determined haplotypes of unrelated parents. Data from this study show that the genes encoding the human terminal Complement ComponentsC6, C7, andC9 define a cluster in the short arm of chromosome 5. We propose that the clusters involving theC8A andC8B and theC6, C7, andC9 genes be referred to as MACI and MACH, respectively.

  • dna polymorphisms and linkage relationship of the human Complement Component C6 c7 and c9 genes
    Immunogenetics, 1991
    Co-Authors: Eliecer Coto, Eduardo Martineznaves, Orlando Dominguez, Josh M Urra, R G Discipio, Carlos Lopezlarrea
    Abstract:

    In this report we describe the linkage between genes encoding human Complement Components C6, C7, and C9. Polymorphisms have been described at the DNA level for the C7 and C9 genes. We have studied 20 individuals by Southern blot analysis with four C6 cDNA subclones to detect restriction fragment length polymorphisms (RFLPs). We have found a Taq I polymorphism defined by two alleles of 8.0 (C6 H) and 6.0 (C6 L) kilobases (kb). RFLP segregation for the C6, C7, and C9 loci in informative families allowed us to estimate the maximum Lod scores at a recombination fraction of theta = 0.0 (C6-C7), theta = 0.0 (C7-C9), and theta = 0.0 (C6-C9). Significant linkage disequilibrium was found between C6 and C7 and between C7 and C9 loci in directly determined haplotypes of unrelated parents. Data from this study show that the genes encoding the human terminal Complement Components C6, C7, and C9 define a cluster in the short arm of chromosome 5. We propose that the clusters involving the C8A and C8B and the C6, C7, and C9 genes be referred to as MACI and MACII, respectively.