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Intron 9 contains the complete endogenous retrovirus HERV-K(C4) as a 6.4-kb insertion in 60% of human C4 genes. The retroviral insertion is in reverse orientation to the C4 coding sequence. Therefore, expression of C4 could lead to the transcription of an antisense RNA, which might protect against e.
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Between the two sequences for the endogenous retrovirus HERV-K(C4) in intron 9, there are 14 SNPs and three single-nucleotide indels. The sequences that determine the C4A and C4B reactivity, the serological properties such as the Rg and Ch determinants, and most of the polymorphic amino acid residues in human C4A and C4B clustered at the C4d.
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Complement component C4 (C4) is a highly variable complement pathway gene situated ∼500 kb from DRB1 and DQB1, the genes most strongly associated with many autoimmune diseases. Variations in C4 copy number (CN), length, and isotype create a highly diverse gene cluster in which insertion of an endogenous retrovirus in the ninth intron of C4.
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The long C4 gene contains an endogenous retrovirus, HERV-K(C4), in its ninth intron. Approximately three-quarters of C4 genes in Caucasian populations belong to the long form. About 40 protein variants for complement C4 have been documented. 17 These proteins are segregated into two classes, the acidic C4A and the basic C4B.
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The impetus for the present study is that our earlier work in healthy European Americans revealed an interindividual variation in the C4 gene copy number (GCN) and dichotomies of C4 gene size and C4 protein isotypes. 33 - 38 In the central region of the human major histocompatibility complex (MHC) on each chromosome 6 (fig. 1), there can be 1.
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The complement C4 locus is in the class III region of the MHC, and exhibits copy number variation. Complement C4 null alleles have shown association with a number of diseases including systemic lupus erythematosus (SLE). However, most studies to date have used protein immunophenotyping and not direct interrogation of the genome to determine C4.
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The HERVK (C4) insertion that contributes to the long form of the C4 gene in humans and nonhuman primates ( Schneider et al. 2001a) expresses antisense transcripts that may act against exogenous.
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This HERV-K(C4) deficiency is not surprising given previous observations of C4A deficiency in type 1 diabetes and that 95% of C4A genes have the HERV-K(C4) insertion (11-15). However, HERV-K(C4) is the variant with the greatest difference in median CN and greatest significance (2.3 copies, P = 4.59 × 10 7 ), whereas the difference in C4A is.
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An insertion of 6.4 kb is present in intron 9 of 60% of the human complement C4 genes, as well as in the C4 genes of a number of Old World primates. This insertion has the typical genomic organization of endogenous retroviruses, with the three major genes gag, pol and env flanked by long terminal re.
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The diversities and polymorphisms of the mouse homologues Slp and C4 proteins are described and contrasted with their human homologues. The human C4 genes are located in the MHC class III region on chromosome 6. Each human C4 gene consists of 41 exons coding for a 5.4-kb transcript. The long gene is 20.6 kb and the short gene is 14.2 kb.
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Spline motion programming, KR C4-based automation solutions are superior in every way. Furthermore, the KR C4 features intelligent, flexible and scalable appli-cation potential. High-end PLC support. The high-end SoftPLC option allows full access to the entire controller I / O system and has a high runtime performance. It allows the I / O hand-
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The KR C4 concept is revolutionary. For the first time, Robot and Motion Control are seamlessly and interactively integrated with control processes for PLC, CNC and Safety. With simple and flexible robot programming via inline forms and new Spline motion programming, KR C4-based automation solutions are superior in every way.
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