Genetic variation of COLEC10 and COLEC11 and association with serum levels of collectin liver 1 (CL-L1) and collectin kidney 1 (CL-K1).
Genetic variation of COLEC10 and COLEC11 and association with serum levels of collectin liver 1 (CL-L1) and collectin kidney 1 (CL-K1).
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DOI：
10.1371/journal.pone.0114883
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发表时间：
2015
期刊：
影响因子：
3.7
通讯作者：
Munthe-Fog L
中科院分区：
文献类型：
--
作者：
Bayarri-Olmos R;Hansen S;Henriksen ML;Storm L;Thiel S;Garred P;Munthe-Fog L
肝凝集素1（CL-L1，别名CL-10）和肾凝集素1（CL-K1，别名CL-11）分别由COLEC 10和COLEC 11基因编码，是补体凝集素途径中高度同源的可溶性模式识别分子。这些蛋白质可能参与抗微生物活性和组织发育，因为COLEC 11突变是发育缺陷综合征3 MC的原因之一。我们研究了COLEC 10和COLEC 11的变化，对血清浓度的影响以及CL-L1和CL-K1血清浓度的相关程度。我们对来自丹麦高加索人的COLEC 10和COLEC 11的启动子区、外显子和外显子-内含子边界进行测序，并测量相应的CL-L1和CL-K1血清水平。CL-L1和CL-K1的中位浓度分别为1.87 μg/ml（1.00-4.14 μg/ml）和0.32 μg/ml（0.11-0.69 μg/ml）。CL-L1与CL-K1呈显著正相关（ρ = 0.7405，P <0.0001）。这两个基因都是高度保守的，大多数变异在非编码区。检测了三种非同义变异：COLEC 10 Glu 78 Asp（rs 150828850，次要等位基因频率（MAF）：0.003）、COLEC 10 Arg 125 Trp（rs 149331285，MAF：0.007）和COLEC 11 His 219 Arg（rs7567833，MAF：0.033）。携带COLEC 10 Arg 125 Trp的患者血清中CL-L1水平升高（P = 0.0478），而启动子多态性COLEC 11 - 9570 C>T（rs3820897）与CL-K1水平降低相关（P = 0.044）。结论：CL-L1和CL-K1基因在COLEC 10和COLEC 11中高度保守，可能反映了CL-L1和CL-K1的生物学意义。此外，两种蛋白质之间的强个体间相关性表明，大部分被发现作为异源寡聚体或受到相同的调节机制。
Collectin liver 1 (CL-L1, alias CL-10) and collectin kidney 1 (CL-K1, alias CL-11), encoded by the COLEC10 and COLEC11 genes, respectively, are highly homologous soluble pattern recognition molecules in the lectin pathway of complement. These proteins may be involved in anti-microbial activity and in tissue development as mutations in COLEC11 are one of the causes of the developmental defect syndrome 3MC. We studied variations in COLEC10 and COLEC11, the impact on serum concentration and to what extent CL-L1 and CL-K1 serum concentrations are correlated. We sequenced the promoter regions, exons and exon-intron boundaries of COLEC10 and COLEC11 in samples from Danish Caucasians and measured the corresponding serum levels of CL-L1 and CL-K1. The median concentration of CL-L1 and CL-K1 was 1.87 μg/ml (1.00–4.14 μg/ml) and 0.32 μg/ml (0.11–0.69 μg/ml), respectively. The level of CL-L1 strongly correlated with CL-K1 (ρ = 0.7405, P <0.0001). Both genes were highly conserved with the majority of variations in the non-coding regions. Three non-synonymous variations were tested: COLEC10 Glu78Asp (rs150828850, minor allele frequency (MAF): 0.003), COLEC10 Arg125Trp (rs149331285, MAF: 0.007) and COLEC11 His219Arg (rs7567833, MAF: 0.033). Carriers of COLEC10 Arg125Trp had increased CL-L1 serum levels (P = 0.0478), whereas promoter polymorphism COLEC11-9570C>T (rs3820897) was associated with decreased levels of CL-K1 (P = 0.044). In conclusion, COLEC10 and COLEC11 are highly conserved, which may reflect biological importance of CL-L1 and CL-K1. Moreover, the strong inter individual correlation between the two proteins suggests that a major proportion are found as heterooligomers or subjected to the same regulatory mechanisms.
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影响因子：
3.7
作者：
Munthe-Fog, L.;Hummelshoj, T.;Garred, P.
通讯作者：
Garred, P.
影响因子：
5.3
作者：
Ma, Ying Jie;Skjoedt, Mikkel-Ole;Garred, Peter
通讯作者：
Garred, Peter
DOI：
10.1002/ajmg.1320330210
发表时间：
1989-06-01
期刊：
AMERICAN JOURNAL OF MEDICAL GENETICS
影响因子：
--
作者：
CARNEVALE, F;KRAJEWSKA, G;BONVINO, A
通讯作者：
BONVINO, A
影响因子：
3.5
作者：
HOPPE, HJ;BARLOW, PN;REID, KBM
通讯作者：
REID, KBM
影响因子：
14.9
作者：
Landau M;Mayrose I;Rosenberg Y;Glaser F;Martz E;Pupko T;Ben-Tal N
通讯作者：
Ben-Tal N