First Author | Pilot-Matias TJ | Year | 1989 |
Journal | DNA | Volume | 8 |
Issue | 2 | Pages | 75-86 |
PubMed ID | 2924687 | Mgi Jnum | J:15948 |
Mgi Id | MGI:64052 | Doi | 10.1089/dna.1.1989.8.75 |
Citation | Pilot-Matias TJ, et al. (1989) Structure and organization of the gene encoding human pulmonary surfactant proteolipid SP-B. DNA 8(2):75-86 |
abstractText | Human pulmonary surfactant proteolipid SP-B arises by proteolytic processing of a 42,000-dalton precursor. The active proteolipid SP-B is one of two small hydrophobic proteins identified in surfactant that impart surface-active properties to surfactant phospholipids. We report the isolation and characterization of complete SP-B cDNA from a human lung cDNA library. The cDNA was used to isolate the gene encoding the SP-B precursor from a lambda EMBL3 library of human embryonic kidney DNA. The entire SP-B gene was sequenced and is approximately 9.5 kb long, with 11 exons and 10 introns including a large 823-nucleotide 3' untranslated exon. The sequence derived from the exons differs from the cDNA sequence at 3 positions out of 2001, only one of which is in the translated region. Direct RNA sequencing indicated that the 5' untranslated region is only 14 nucleotides long. A number of putative regulatory elements were found upstream of the SP-B gene, including a GC box and several putative cAMP and glucocorticoid receptor binding sites. Several Alu repeats and a region of potential Z-DNA formation were found in the introns. Southern blotting of human genomic DNA probed with SP-B cDNA indicated the presence of only one SP-B gene in the human genome, and the gene was localized to chromosome 2. |