title: The human CILP gene: exon/intron organization and chromosomal mapping.
abstract: The human cDNA for cartilage intermediate layer protein (CILP) codes for a larger precursor protein that consists of CILP and a homologue to porcine Nucleotide pyrophosphohydrolase (NTPPHase) [Lorenzo et al. 1998a. J. Biol. Chem. 273, 23469-23475]. The human gene has now been isolated and characterized. 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 promoter region with a TATA-like box localized from -29 to -23 bp upstream of the transcription start site. Analysis of the putative promoter region revealed potentially cis-regulatory eukaryotic elements such as GATA-1, MyoD, MZF1, and CdxA. The protein coding region begins in exon 2 with the putative signal peptide. CILP is encoded from exon 3 to exon 9. In addition, exon 9 also 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 last intron, intron 8, that belongs to the minor class of pre-mRNA introns that contain 'at-ac' at their 5' and 3' ends, respectively. The CILP gene was mapped to human chromosome 15q22.
authors.affiliation: Department of Cell and Molecular Biology, Section for Connective Tissue Biology, University of Lund, Sweden.
authors.forename: P
authors.initials: P
authors.lastname: Lorenzo
authors.forename: P
authors.initials: P
authors.lastname: Aman
authors.forename: Y
authors.initials: Y
authors.lastname: Sommarin
authors.forename: D
authors.initials: D
authors.lastname: Heinegård
mesh_terms: D001483:Base Sequence; D002874:Chromosome Mapping; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics; D003001:Cloning, Molecular; D017931:DNA Primers / Q000235:genetics; D018076:DNA, Complementary / Q000235:genetics; D005091:Exons; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D006023:Glycoproteins / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007438:Introns; D008969:Molecular Sequence Data; D011401:Promoter Regions, Genetic; D011755:Pyrophosphatases
chemical_list: D017931:DNA Primers; D018076:DNA, Complementary; D016326:Extracellular Matrix Proteins; D006023:Glycoproteins; C114607:CILP protein, human; D011755:Pyrophosphatases