title: Functional effects of CCL3L1 copy number.
abstract: Copy number variation (CNV) is becoming increasingly important as a feature of human variation in disease susceptibility studies. However, the consequences of CNV are not so well understood. Here, we present data exploring the functional consequences of CNV of CCL3L1 in 55 independent UK samples with no known clinical phenotypes. The copy number of CCL3L1 was determined by the paralogue ratio test, and expression levels of macrophage inflammatory protein-1α (MIP-1α) and mRNA from stimulated monocytes were measured and analysed. The data show no statistically significant association of MIP-1α protein levels with copy number. However, there was a significant correlation between copy number and CCL3L1:CCL3 mRNA ratio. The data also provide evidence that expression of CCL3 predominates in both protein and mRNA, and therefore the observed variation of CCL3 is potentially more important biologically than that of CNV of CCL3L1.
authors.affiliation: Centre for Genetics and Genomics and School of Biology, University of Nottingham, Nottingham, UK. danielle.carpenter@nottingham.ac.uk
authors.forename: D
authors.initials: D
authors.lastname: Carpenter
authors.forename: R S
authors.initials: RS
authors.lastname: McIntosh
authors.forename: R J
authors.initials: RJ
authors.lastname: Pleass
authors.forename: J A L
authors.initials: JA
authors.lastname: Armour
mesh_terms: D054405:Chemokine CCL3 / Q000235:genetics / Q000378:metabolism; D019742:Chemokines, CC / Q000235:genetics* / Q000378:metabolism*; D056915:DNA Copy Number Variations; D018628:Gene Dosage; D006801:Humans; D014158:Transcription, Genetic
chemical_list: C515429:CCL3 protein, human; C492767:CCL3L1 protein, human; D054405:Chemokine CCL3; D019742:Chemokines, CC