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C4 genes may be short (14.6 kb) or long (21 kb), due to the absence or presence of an endogenous retroviral sequence-HERV-K (C4)-in intron 9, respectively. The C4 gene copy number (GCN) can vary from 1-3 per haplotype or 2-6 per diploid genome. The variation in GCN leads to a range of C4 plasma protein concentrations among healthy subjects.
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The fourth component of complement (C4) is coded for by two tandem-duplicated genes located in the class III region of the MHC of humans as well as a number of primates. A C4 gene size polymorphism giving rise to two gene variants of 16 and 22.3 kb length can be attributed to a complete endogenous r.
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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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C4.4A expression level correlated with in vivo efficacy, the most responsive being the models with C4.4A expression in over 50% of the cells. In the NCI-H292 NSCLC model, C4.4A-ADC demonstrated equal or superior efficacy compared to cisplatin, paclitaxel, and vinorelbine. Furthermore, an additive antitumor efficacy in combination with cisplatin.
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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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The human complement C4 gene (C4A and C4B genes) locus is located in the highly polymorphic major histocompatibility complex (MHC) class III gene region on chromosome 6, which could be a short form (C4S, 14.6 kb) or a long form (C4L, 21 kb), depending on the absence or the presence of the 6.36 kb endogenous retroviral sequence HERV-K(C4) in.
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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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