PMID- 10496080 OWN - NLM STAT- MEDLINE DCOM- 19991020 LR - 20061115 IS - 1434-5161 (Print) IS - 1434-5161 (Linking) VI - 44 IP - 5 DP - 1999 TI - Isolation and localization of an IDDMK1,2-22-related human endogenous retroviral gene, and identification of a CA repeat marker at its locus. PG - 343-7 AB - 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. FAU - Hasuike, S AU - Hasuike S AD - Department of Obstetrics and Gynecology, Asahikawa Medical College, Japan. FAU - Miura, K AU - Miura K FAU - Miyoshi, O AU - Miyoshi O FAU - Miyamoto, T AU - Miyamoto T FAU - Niikawa, N AU - Niikawa N FAU - Jinno, Y AU - Jinno Y FAU - Ishikawa, M AU - Ishikawa M LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - England TA - J Hum Genet JT - Journal of human genetics JID - 9808008 RN - 0 (DNA, Viral) RN - 0 (Genetic Markers) SB - IM MH - Chromosome Mapping MH - *Chromosomes, Human, Pair 1 MH - DNA, Viral/genetics MH - Diabetes Mellitus, Type 1/*genetics MH - *Dinucleotide Repeats MH - Endogenous Retroviruses/*genetics MH - Genes, env MH - Genetic Markers MH - Humans MH - Repetitive Sequences, Nucleic Acid MH - Sequence Homology, Nucleic Acid EDAT- 1999/09/25 00:00 MHDA- 1999/09/25 00:01 CRDT- 1999/09/25 00:00 PHST- 1999/09/25 00:00 [pubmed] PHST- 1999/09/25 00:01 [medline] PHST- 1999/09/25 00:00 [entrez] AID - 10.1007/s100380050173 [doi] PST - ppublish SO - J Hum Genet. 1999;44(5):343-7. doi: 10.1007/s100380050173.