Isolation and localization of an IDDMK1,2-22-related human endogenous retroviral gene, and identification of a CA repeat marker at its locus
- 1 August 1999
- journal article
- research article
- Published by Springer Nature in Journal of Human Genetics
- Vol. 44 (5) , 343-347
- https://doi.org/10.1007/s100380050173
Abstract
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 corresponding to IDDMK1,2-22. The isolated gene showed 99.8% and 99.7% homologies in 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 same single gene. The newly isolated gene was present in the first intron of the CD48 gene and was located on chromosome 1q21.2–q22. A CA repeat marker was found approximately 20 kb upstream from the 5′-end of the 5′-LTR of the gene.Keywords
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