Structure and organization of the human deoxyribonuclease II (DNase II) gene

• Published in: Annals of human genetics Vol. 62; no. 4; pp. 299 - 305
• Main Authors: YASUDA, T., TAKESHITA, H., IIDA, R., TSUTSUMI, S., NAKAJIMA, T., HOSOMI, O., NAKASHIMA, Y., MORI, S., KISHI, K.
• Format: Journal Article
• Language: English
• Published: Edinburgh, UK Cambridge University Press 01.07.1998; Blackwell Science Ltd
• Subjects: Base Sequence; Biological and medical sciences; DNA, Complementary - chemistry; DNA, Complementary - genetics; Endodeoxyribonucleases - chemistry; Endodeoxyribonucleases - genetics; Exons - genetics; Fundamental and applied biological sciences. Psychology; Humans; Introns - genetics; Male; Middle Aged; Molecular and cellular biology; Molecular genetics; Molecular Sequence Data; Mutagenesis. Repair; Phenotype; Sequence Analysis, DNA; Thyroid Gland - enzymology; Human; Deoxyribonuclease II; Gene; Molecular structure; Nucleotide sequence; Enzyme; Genetics; Hydrolases; Gene organization; Esterases
• ISSN: 0003-4800; 1469-1809
• DOI: 10.1046/j.1469-1809.1998.6240299.x

The structure of the human gene for deoxyribonuclease II (DNase II; EC 3.1.22.1) was determined using several specific primers based on the human DNase II cDNA sequence [Yasuda et al. (1998). J. Biol. Chem. 273, 2610–2616] in a polymerase chain reaction-based strategy. The gene spanned about 6 kb and consisted of 6 exons. No canonical TATA or CAAT boxes could be identified within the 1341 nucleotides upstream of the putative transcription start site, although the 5′-flanking region contained a CpG island and several putative binding motifs for transcription factors Sp1 and ETF. These properties indicate that the DNase II gene is a housekeeping gene and this is compatible with its ubiquitous expression in human tissues. Three different cleavage/polyadenylation sites were identified in the 3′-flanking region, leading to the production of multiple DNase II mRNA species. However, a comparison of the entire translated sequences of the gene from a pair of subjects with homozygous DNase II phenotypes H and L revealed no differences in the nucleotide sequences.