Nucleic Acids Research, 1994, Vol. 22, No. 24 5211-5217
© 1994
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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
1Department of Medical Genetics, University of Manchester St Mary's Hospital, Manchester M13 OJH 2Department of Human Genetics, University of Newcastle upon Tyne Ridley Building, Claremont Place, Newcastle upon Tyne NE1 7RU 3MRC Immunochemistry Unit, University of Oxford South Parks Road, Oxford 0X1 3QU, UK
*To whom correspondence should be addressed
+Present addresses: University of Manchester, Oxford Road, Manchester M13 9PL
University of Cambridge, Department of Genetics, Downing Street, Cambridge CB2 3EH, UK
Received September 27, 1994. Accepted November 7, 1994.
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 the complement C4A genes and also in some CAB genes, and is a principal contributor to interlocus and interallellc 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. Retrotransposltion 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 CAB genes in both humans and orang-utangs 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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