A variable number of tandem repeats locus within the human complement C2 gene is associated with a retroposon derived from a human endogenous retrovirus.
We have previously described multiallelic restriction fragment length polymorphisms of the C2 gene, suggesting the presence of a variable number of tandem repeats (VNTR) locus. We report here the cloning and sequencing of the polymorphic fragments from the two most common alleles of the gene, a and b. The results confirm the presence of a VNTR locus consisting of a nucleotide sequence, 41 bp in average length, repeated tandemly 23 and 17 times in alleles a and b, respectively. The difference in the number of repeats between the two alleles is due to the deletion/insertion of two noncontiguous segments, 143 and 118 bp long, of allele a, and of a 40-bp segment of allele b. The VNTR region is associated with a SINE (short interspersed sequence)-type retroposon, SINE-R.C2, located within the third intron of the C2 gene. SINE-R.C2 is a member of a previously described large retroposon family of the human genome, apparently derived from the human endogenous retrovirus, (HERV) K10, which is homologous to the mouse mammary tumor virus.
Department of Medicine, University of Alabama, Birmingham 35294.
Z B
ZB
Zhu
S L
SL
Hsieh
D R
DR
Bentley
R D
RD
Campbell
J E
JE
Volanakis
D000483:Alleles; D001483:Base Sequence; D003001:Cloning, Molecular; D003175:Complement C2 / Q000235:genetics*; D003360:Cosmids; D004251:DNA Transposable Elements; D014644:Genetic Variation; D006801:Humans; D008324:Mammary Tumor Virus, Mouse / Q000235:genetics; D008969:Molecular Sequence Data; D012150:Polymorphism, Restriction Fragment Length; D012091:Repetitive Sequences, Nucleic Acid; D015183:Restriction Mapping; D012190:Retroviridae / Q000235:genetics*; D012689:Sequence Homology, Nucleic Acid
D003175:Complement C2; D004251:DNA Transposable Elements