The human CILP gene: exon/intron organization and chromosomal mapping

The human cDNA for cartilage intermediate layer protein (CILP) codes for a larger precursor protein that consists of CILP and a homologue to porcine N ucleotide pyrophosphohydrolase (NTPPHase) [Lorenzo et al. 1998a. J. Biol. C hem. 273, 23469-23475]. The human gene has now been isolated and characteri zed. Southern blot analysis indicated a single copy of the CILP gene in the human genome. The gene spans approximately 15.3 kbp of genomic DNA, and is organized in nine exons. The 5' flanking region contains a putative promot er region with a TATA-like box localized from -29 to -23 bp upstream of the transcription start site. Analysis of the putative promoter region reveale d potentially cis-regulatory eukaryotic elements such as GATA-1, MyoD, MZF1 , and CdxA. The protein coding region begins in exon 2 with the putative si gnal peptide. CILP is encoded from exon 3 to exon 9. In addition, exon 9 al so codes for the entire NTPPHase homologue and contains the 3' untranslated region of the gene. All the introns follow the 'gt-ag' rule, except the la st intron, intron 8, that belongs to the minor class of pre-mRNA introns th at contain 'at-ac' at their 5' and 3' ends, respectively. The CILP gene was mapped to human chromosome 15q22. (C) 1999 Elsevier Science B.V./Internati onal Society of Matrix Biology. All rights reserved.