Alternative titles; symbols
HGNC Approved Gene Symbol: DNASE1L1
Cytogenetic location: Xq28 Genomic coordinates (GRCh38): X:154,401,236-154,412,101 (from NCBI)
Parrish et al. (1995) isolated a novel cDNA from the region of Xq28 between QM (312173) and DXS1010E. Translation of the long open reading frame found in the cDNA yielded a putative 302-amino acid protein with 37.6% identity to human DNase I (125505). The protein was predicted to contain a signal sequence at the amino terminus, a transmembrane domain near the carboxyl terminus, and a helix-loop-helix domain. The transcript was present at highest levels in skeletal and cardiac muscle, with lower expression in other tissues.
Pergolizzi et al. (1996) screened cDNA libraries with a cosmid that had been mapped to Xq28 in the region between RCP/GCP (300822; 300821) and G6PD (305900). They obtained a 2.1-kb cDNA and showed that it encodes a putative 302-amino acid protein with 44% sequence identity to pig DNase I and 39% identity to human DNase I. Northern blot analysis detected a single 2.0-kb transcript in adult heart and skeletal muscle and an additional transcript of 2.5 kb in some fetal tissues. The sequence of Pergolizzi et al. (1996) was identical to that reported by Parrish et al. (1995).
The DNASE1L1 gene maps to chromosome Xq28 (Parrish et al., 1995).
Parrish, J. E., Ciccodicola, A., Wehnert, M., Cox, G. F., Chen, E., Nelson, D. L. A muscle-specific DNase I-like gene in human Xq28. Hum. Molec. Genet. 4: 1557-1564, 1995. [PubMed: 8541839] [Full Text: https://doi.org/10.1093/hmg/4.9.1557]
Pergolizzi, R., Appierto, V., Bosetti, A., DeBellis, G. L., Rovida, E., Biunno, I. Cloning of a gene encoding a DNase I-like endonuclease in the human Xq28 region. Gene 168: 267-270, 1996. [PubMed: 8654957] [Full Text: https://doi.org/10.1016/0378-1119(95)00741-5]