ArticleNucleic acids research1994
Identification of a novel family of human endogenous retroviruses and characterization of one family member, HERV-K(C4), located in the complement C4 gene cluster.
Article in Nucleic acids research, 1994. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 62 citations in OpenAlex.
- Type I interferons increase expression of endogenous retrovirus K102 and envelope protein in myeloid cells from patients with autoimmune disease.Mobile DNA · 2025Article
- Deletion of Vβ3Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- Molecular basis and genetic testing strategies for diagnosing 21-hydroxylase deficiency, including CAH-X syndrome.Annals of pediatric endocrinology & metabolism · 2023Article
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- HERV-K(HML-2), the Best Preserved Family of HERVs: Endogenization, Expression, and Implications in Health and Disease.Frontiers in oncology · 2013Review
- Mutational characterization of congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Malaysia.Journal of endocrinological investigation · 2013Article
- The HIV-1 pandemic: does the selective sweep in chimpanzees mirror humankind's future?Retrovirology · 2013Review
- Intraspecific evolution of human RCCX copy number variation traced by haplotypes of the CYP21A2 gene.Genome biology and evolution · 2013Article
- Novel deletion alleles carrying CYP21A1P/A2 chimeric genes in Brazilian patients with 21-hydroxylase deficiency.BMC medical genetics · 2010Article
- Human endogenous retrovirus (HERVK9) structural polymorphism with haplotypic HLA-A allelic associations.Genetics · 2008Article
- Detection of retroviral antisense transcripts and promoter activity of the HERV-K(C4) insertion in the MHC class III region.Immunogenetics · 2004Article
- Total C4B deficiency due to gene deletion and gene conversion in a patient with severe infections.Clinical and diagnostic laboratory immunology · 2003Article
- Deficiencies of human complement component C4A and C4B and heterozygosity in length variants of RP-C4-CYP21-TNX (RCCX) modules in caucasians. The load of RCCX genetic diversity on major histocompatibility complex-associated disease.The Journal of experimental medicine · 2000Article
- Germ cell expression of an isolated human endogenous retroviral long terminal repeat of the HERV-K/HTDV family in transgenic mice.Journal of virology · 1999Article
- Constructing primate phylogenies from ancient retrovirus sequences.Proceedings of the National Academy of Sciences of the United States of America · 1999Article
- Human endogenous retroviruses: nature, occurrence, and clinical implications in human disease.Clinical microbiology reviews · 1996Review
- DNase I hypersensitivity mapping and promoter polymorphism analysis of human C4.Immunogenetics · 1995Article
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
Abstract
We have identified a novel family of about 10-50 human endogenous retrovirus elements (HERVs) and have characterized one family member (HERV-KC4). This retrovirus element is integrated within intron 9 of and complement C4A genes and also in some C4B genes, and is a principal contribution to interlocus and interallelic length heterogeneity of C4 genes. The HERV-K(C4) sequence has a typical retrovirus structure with elements of gag, pol and env domains, flanked by two long terminal repeats (LTRs) and is similar to type A, B and D retroviruses. Multiple termination codons preclude the existence of long open reading frames, suggesting that the HERV-K(C4) sequence is no longer functional. Zoo blot hybridization reveals that New World monkeys appear to lack sequences similar to HERV-K(C4), suggesting that integration has occurred after the divergence of Old and New World monkeys. Retrotransposition of prototype viruses is presumed to have led to the amplification and integration of the members of the family in different loci, which in humans, appear to be dispersed over several chromosomes. The absence of the HERV-K(C4) element in some C4B genes in both humans and orangutangs indicate that the retrovirus inserted into the C4A gene after the duplication of the cluster. Subsequent spread of the HERV-K(C4) sequence to C4B genes presumably occurred by interlocus sequence exchange mechanisms, such as unequal crossover and gene conversion-like mechanisms.
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