2011
DOI: 10.1007/s00251-011-0512-1
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Structural gene variants in the porcine mannose-binding lectin 1 (MBL1) gene are associated with low serum MBL-A concentrations

Abstract: Mannose-binding lectin (MBL) is a collagenous lectin that kills a wide range of pathogenic microbes through complement activation. The MBL1 and MBL2 genes encode MBL-A and MBL-C, respectively. MBL deficiency in humans is associated with higher susceptibility to viral as well as bacterial infections. A number of single nucleotide polymorphisms (SNP) have been identified in the collagen-like domain of the human MBL gene, of which several are strongly associated with decreased concentrations of MBL in serum. In t… Show more

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Cited by 13 publications
(20 citation statements)
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“…Four of these coincided with the homozygous haplotypes A1–A4 previously published by Juul‐Madsen et al . (). Two haplotypes – A2 and A5 – were present among the BC 2 animals.…”
Section: Resultsmentioning
confidence: 97%
See 2 more Smart Citations
“…Four of these coincided with the homozygous haplotypes A1–A4 previously published by Juul‐Madsen et al . (). Two haplotypes – A2 and A5 – were present among the BC 2 animals.…”
Section: Resultsmentioning
confidence: 97%
“…In the present study, variation was detected at three of four nucleotide positions previously reported to harbour non‐synonymous SNPs (Lillie et al ., ; Juul‐Madsen et al ., ). The SNP A77G corresponds to amino acid 26, which is located in the N‐terminal domain of the protein, and substitutes a glycine for a glutamic acid.…”
Section: Discussionmentioning
confidence: 97%
See 1 more Smart Citation
“…) and pigs (Juul‐Madsen et al . ), with consequences for body mass and disease susceptibility (Lillie et al . ; Bergman ; Bergman et al .…”
Section: Discussionmentioning
confidence: 99%
“…) and pigs (Juul‐Madsen et al . ). Here, we analysed the variability of its putative promoter region which is associated with low body weight and disease susceptibility in domestic ungulates (Schou et al .…”
Section: Methodsmentioning
confidence: 97%