Identification, genomic organization and mRNA expression of CRELD1, the founding member of a unique family of matricellular proteins

• Published in: Gene Vol. 293; no. 1-2; pp. 47 - 57
• Main Authors: Rupp, Paul A, Fouad, Gameil T, Egelston, Carley A, Reifsteck, Carol A, Olson, Susan B, Knosp, Wendy M, Glanville, Robert W, Thornburg, Kent L, Robinson, Susan W, Maslen, Cheryl L
• Format: Journal Article
• Language: English
• Published: Netherlands 26.06.2002
• Subjects: Alternative Splicing; Amino Acid Sequence; Animals; Base Sequence; Cattle; Cell Adhesion Molecules - genetics; Chick Embryo; Chromosome Mapping; Chromosomes, Human, Pair 3 - genetics; Cloning, Molecular; DNA, Complementary - chemistry; DNA, Complementary - genetics; Exons; Extracellular Matrix Proteins - genetics; Gene Expression; Gene Expression Regulation, Developmental; Genes - genetics; Humans; In Situ Hybridization; Introns; Mice; Molecular Sequence Data; Protein Isoforms - genetics; RNA, Messenger - genetics; RNA, Messenger - metabolism; Sequence Alignment; Sequence Analysis, DNA; Sequence Homology, Amino Acid; Synteny; Transcription, Genetic
• ISSN: 0378-1119
• DOI: 10.1016/s0378-1119(02)00696-0

We have isolated and characterized a unique gene that encodes a highly conserved membrane bound extracellular protein that defines a new epidermal growth factor-related gene family. The CRELD1 (Cysteine-Rich with EGF-Like Domains 1) gene (previously known as cirrin) was cloned from a human chromosome 3 BAC. Mapping of the gene confirmed its position at chromosome 3p25.3. The gene is ubiquitously expressed in early development and later becomes more markedly expressed in the developing heart, limb buds, mandible and central nervous system. Expression persists in adulthood in most tissues. Sequence analysis suggests that this is a cell adhesion protein. The mouse orthologue was cloned and mapped to the syntenic region of mouse chromosome 6. Orthologues or homologues have also been identified for cow, Chinese hamster, Drosophila and Caenorhabditis elegans. The CRELD1 gene is deleted in the human cytogenetic disorder 3p- syndrome and is in the region of loss of heterozygosity for several types of cancer. A potential role for this protein in these disorders is discussed.