C7*9, a New Frequent C7 Allele Detected by an Allotype-Specific Monoclonal Antibody

Würzner, Reinhard; Nitze, Rüdiger; Götze, Otto

doi:10.1159/000463163

Cited by 24 publications

(25 citation statements)

References 12 publications

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“…Monospecific polyclonal IgG directed against C6 and C7 were raised in goats (GaC6, GaC7) by standard methods (10). The mAb WU 6-4 was generated in Balb/c mice as detailed (10).…”

Section: Methodsmentioning

confidence: 99%

Molecular basis of subtotal complement C6 deficiency. A carboxy-terminally truncated but functionally active C6.

Würzner

Hobart²,

Fernie³

et al. 1995

J. Clin. Invest.

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Individuals with subtotal complement C6 deficiency possess a C6 molecule that is 14% shorter than normal C6 and present in low but detectable concentrations (1-2% of the normal mean). We now show that this dysmorphic C6 is bactericidally active and lacks an epitope that was mapped to the most carboxy-terminal part of C6 using C6 cDNA fragments expressed as fusion proteins in the pUEX expression system. We thus predicted that the abnormal C6 molecule might be carboxy-terminally truncated and sought a mutation in an area -14% from the carboxy-terminal end of the coding sequence. By sequencing PCR-amplified products from this region, we found, in three individuals from two families, a mutation that might plausibly be responsible for the defect. All three have an abnormal 5' splice donor site of intron 15, which would probably prevent splicing. An in-frame stop codon is found 17 codons downstream from the intron boundary, which would lead to a truncated polypeptide 13.5% smaller than normal C6. This result was unexpected, as earlier studies mapped the C5b binding site, or a putative enzymatic region, to this part of C6. Interestingly, all three subjects were probably heterozygous for both subtotal C6 and complete C6 deficiency. (J. Clin. Invest. 1995. 95:1877-1883.) Key words: antigenic determinants complement membrane attack complex * immunologic diseases -meningococcal infections * RNA splicing

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“…Monospecific polyclonal IgG directed against C6 and C7 were raised in goats (GaC6, GaC7) by standard methods (10). The mAb WU 6-4 was generated in Balb/c mice as detailed (10).…”

Section: Methodsmentioning

confidence: 99%

Molecular basis of subtotal complement C6 deficiency. A carboxy-terminally truncated but functionally active C6.

Würzner

Hobart²,

Fernie³

et al. 1995

J. Clin. Invest.

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“…This is of particular interest in the case of the samples of Dr. Wurzner, whose polymorphism detected by monoclonal antibody reactivity [12] does not affect the iso-electric pattern.…”

Section: Resultsmentioning

confidence: 99%

C7 Reference Typing and Nomenclature Recommendations

Hobart

1990

Complement Inflamm

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The results of reference typing for C7 are presented and discussed. It appears that the present literature is using consistent nomenclature except that it was not possible to distinguish between the European C7-3 allele and Japanese C7-6. Oriental populations have both a higher frequency of variants and a greater variety of variants than Caucasian populations. Some samples with complex patterns defied classification, and it is speculated that these may be from persons with duplicated C7 genes. It is recommended that no change to the present system of nomenclature be made before a more detailed molecular understanding of the system is achieved.

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“…30 Two micrograms of total RNA was reverse transcribed using oligo(dT) 18 primer and Superscript II reverse transcriptase (Life Technologies, Inc.) in a 20 ml reaction. The resulting cDNA was amplified using primer specific for the human C7 gene Generation of promoter-luciferase constructs Seven fragments containing various lengths of the human C7 promoter were obtained by PCR.…”

Section: Analysis Of C7 Expressionmentioning

confidence: 99%

Cloning and characterization of human complement component C7 promoter

2003

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To study the transcriptional regulation of the human complement component C7, a 1 kb promoter fragment was cloned and the transcription start site was determined. C7 is expressed by the hepatoma-derived cell line Hep-3B, but not by Hep-G2. Transfection of these cell lines with different C7 promoter-luciferase constructs demonstrated that 1 kb of the 5 0 -flanking region contains the necessary elements for driving C7 transcription in a tissue-specific manner and showed that the sequence between À29/+102 retained the majority of C7 promoter activity in Hep-3B. Electrophoretic mobility shift assays suggested that the binding of the C/EBPa transcription factor to a C/EBP sequence located at +42 is essential for C7 expression. To investigate whether the absence of C/EBPa expression in Hep-G2 cells is responsible for the lack of C7 transcription, Hep-G2 cells were transfected with a C/EBPa expression vector. C/EBPa transactivated the C7 luciferase reported gene and restored the C7 expression in Hep-G2 cells.

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C7*9, a New Frequent C7 Allele Detected by an Allotype-Specific Monoclonal Antibody

Cited by 24 publications

References 12 publications

Molecular basis of subtotal complement C6 deficiency. A carboxy-terminally truncated but functionally active C6.

Molecular basis of subtotal complement C6 deficiency. A carboxy-terminally truncated but functionally active C6.

C7 Reference Typing and Nomenclature Recommendations

Cloning and characterization of human complement component C7 promoter

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