Functional effects of CCL3L1 copy number

被引：8

作者：

Carpenter, D. ^{[1
]}

McIntosh, R. S.

Pleass, R. J.

Armour, J. A. L.

机构：

[1] Univ Nottingham, Sch Med, Queens Med Ctr, Ctr Genet & Genom, Nottingham NG7 2UH, England

来源：

GENES AND IMMUNITY | 2012年 / 13卷 / 05期

基金：

英国惠康基金;

关键词：

CCL3L1; MIP-1; alpha; gene expression; copy number; MACROPHAGE INFLAMMATORY PROTEIN-1-ALPHA; HUMAN BLOOD MONOCYTES; ALVEOLAR MACROPHAGES; LD78-BETA ISOFORM; GENE-EXPRESSION; VARIANT ASSAYS; CC-CHEMOKINE; HIV-1; SUSCEPTIBILITY; MIP-1-ALPHA;

D O I：

10.1038/gene.2012.5

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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-1 alpha (MIP-1 alpha) and mRNA from stimulated monocytes were measured and analysed. The data show no statistically significant association of MIP-1 alpha 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.

引用

页码：374 / 379

页数：6

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