S. Hasuike et al., Isolation and localization of an IDDMK1,2-22-related human endogenous retroviral gene, and identification of a CA repeat marker at its locus, J HUM GENET, 44(5), 1999, pp. 343-347
We intended to confirm genetically the involvement of the IDDMK1,2-22 gene
in the pathogenesis of insulin-dependent diabetes mellitus (IDDM). For this
purpose, we isolated a human endogenous retrovirus gene, possibly correspo
nding to IDDMK1,2-22. The isolated gene showed 99.8% and 99.7% homologies i
n nucleotide sequences to a part of the env region and of the 3'-LTR region
, respectively, compared to those of IDDMK1,2-22 deposited in GenBank. The
gene also showed a close relation to HERV-K18, of which the 3'-LTR sequence
gave 99.5% homology. It seemed likely that these genes represented the sam
e single gene. The newly isolated gene was present in the first intron of t
he CD48 gene and was located on chromosome 1q21.2-q22. A CA repeat marker w
as found approximately 20 kb upstream from the 5'-end of the 5'-LTR of the
gene.