Characterization of a polymorphism in the coding sequence of FCN3 resulting in a Ficolin-3 (Hakata antigen) deficiency state

Research output: Contribution to journal › Journal article › Research › peer-review

Standard

Characterization of a polymorphism in the coding sequence of FCN3 resulting in a Ficolin-3 (Hakata antigen) deficiency state. / Munthe-Fog, Lea; Hummelshøj, Tina; Ma, Ying Jie; Hansen, Bjarke E; Koch, Claus; Madsen, Hans O; Skjødt, Karsten; Garred, Peter.

In: Molecular Immunology, Vol. 45, No. 9, 2008, p. 2660-2666.

Research output: Contribution to journal › Journal article › Research › peer-review

Harvard

Munthe-Fog, L, Hummelshøj, T, Ma, YJ, Hansen, BE, Koch, C, Madsen, HO, Skjødt, K & Garred, P 2008, 'Characterization of a polymorphism in the coding sequence of FCN3 resulting in a Ficolin-3 (Hakata antigen) deficiency state', Molecular Immunology, vol. 45, no. 9, pp. 2660-2666. https://doi.org/10.1016/j.molimm.2007.12.012

APA

Munthe-Fog, L., Hummelshøj, T., Ma, Y. J., Hansen, B. E., Koch, C., Madsen, H. O., Skjødt, K., & Garred, P. (2008). Characterization of a polymorphism in the coding sequence of FCN3 resulting in a Ficolin-3 (Hakata antigen) deficiency state. Molecular Immunology, 45(9), 2660-2666. https://doi.org/10.1016/j.molimm.2007.12.012

Vancouver

Munthe-Fog L, Hummelshøj T, Ma YJ, Hansen BE, Koch C, Madsen HO et al. Characterization of a polymorphism in the coding sequence of FCN3 resulting in a Ficolin-3 (Hakata antigen) deficiency state. Molecular Immunology. 2008;45(9):2660-2666. https://doi.org/10.1016/j.molimm.2007.12.012

Author

Munthe-Fog, Lea ; Hummelshøj, Tina ; Ma, Ying Jie ; Hansen, Bjarke E ; Koch, Claus ; Madsen, Hans O ; Skjødt, Karsten ; Garred, Peter. / Characterization of a polymorphism in the coding sequence of FCN3 resulting in a Ficolin-3 (Hakata antigen) deficiency state. In: Molecular Immunology. 2008 ; Vol. 45, No. 9. pp. 2660-2666.

Bibtex

@article{924fdfc0f68e11ddbf70000ea68e967b,
title = "Characterization of a polymorphism in the coding sequence of FCN3 resulting in a Ficolin-3 (Hakata antigen) deficiency state",
abstract = "Ficolin-3 (Hakata antigen or H-ficolin) is a soluble pattern recognition molecule in the lectin complement pathway. We speculated whether common genetic variations in the FCN3 gene contribute to deficiency of Ficolin-3. The FCN3 gene was sequenced in 237 healthy Danish Caucasians. The relevance of polymorphisms was assessed with antibodies against Ficolin-3 in a novel ELISA system and by production of recombinant Ficolin-3 variants. Ficolin-3 serum profiles were analyzed by SDS-PAGE and western blotting. Ficolin-3 serum concentration varied 10-fold (median, 24microg/ml; range, 3-54microg/ml). Out of several polymorphisms one FCN3+1637delC causing a reading frame shift and a distortion of the C-terminal end of the molecule with an allele frequency of 0.011 was particularly interesting. In individuals heterozygous for the FCN3+1637delC deletion lowered Ficolin-3 concentration was observed (P=0.025). SDS-PAGE and western blotting of serum revealed a weak band corresponding to the truncated molecule in addition to the normal Ficolin-3 pattern. Characterization of recombinant Ficolin-3 derived from FCN3+1637delC showed that in the homozygous situation this allelic variant would lead to Ficolin-3 deficiency. In conclusion an FCN3+1637delC deletion variant disrupting the possibility for pattern recognition was detected. Characterization of recombinant variant Ficolin-3 shows that homozygosity for the FCN3+1637delC deletion may lead to Ficolin-3 deficiency and may thus be the basis for a novel complement deficiency state Udgivelsesdato: 2008/5",
author = "Lea Munthe-Fog and Tina Hummelsh{\o}j and Ma, {Ying Jie} and Hansen, {Bjarke E} and Claus Koch and Madsen, {Hans O} and Karsten Skj{\o}dt and Peter Garred",
note = "Keywords: Adult; Cell Line; Enzyme-Linked Immunosorbent Assay; Exons; Glycoproteins; Heterozygote; Homozygote; Humans; Lectins; Polymorphism, Genetic; Promoter Regions, Genetic; Recombinant Proteins; Sequence Analysis, DNA",
year = "2008",
doi = "10.1016/j.molimm.2007.12.012",
language = "English",
volume = "45",
pages = "2660--2666",
journal = "Molecular Immunology",
issn = "0161-5890",
publisher = "Pergamon Press",
number = "9",

}

RIS

TY - JOUR

T1 - Characterization of a polymorphism in the coding sequence of FCN3 resulting in a Ficolin-3 (Hakata antigen) deficiency state

AU - Munthe-Fog, Lea

AU - Hummelshøj, Tina

AU - Ma, Ying Jie

AU - Hansen, Bjarke E

AU - Koch, Claus

AU - Madsen, Hans O

AU - Skjødt, Karsten

AU - Garred, Peter

N1 - Keywords: Adult; Cell Line; Enzyme-Linked Immunosorbent Assay; Exons; Glycoproteins; Heterozygote; Homozygote; Humans; Lectins; Polymorphism, Genetic; Promoter Regions, Genetic; Recombinant Proteins; Sequence Analysis, DNA

PY - 2008

Y1 - 2008

N2 - Ficolin-3 (Hakata antigen or H-ficolin) is a soluble pattern recognition molecule in the lectin complement pathway. We speculated whether common genetic variations in the FCN3 gene contribute to deficiency of Ficolin-3. The FCN3 gene was sequenced in 237 healthy Danish Caucasians. The relevance of polymorphisms was assessed with antibodies against Ficolin-3 in a novel ELISA system and by production of recombinant Ficolin-3 variants. Ficolin-3 serum profiles were analyzed by SDS-PAGE and western blotting. Ficolin-3 serum concentration varied 10-fold (median, 24microg/ml; range, 3-54microg/ml). Out of several polymorphisms one FCN3+1637delC causing a reading frame shift and a distortion of the C-terminal end of the molecule with an allele frequency of 0.011 was particularly interesting. In individuals heterozygous for the FCN3+1637delC deletion lowered Ficolin-3 concentration was observed (P=0.025). SDS-PAGE and western blotting of serum revealed a weak band corresponding to the truncated molecule in addition to the normal Ficolin-3 pattern. Characterization of recombinant Ficolin-3 derived from FCN3+1637delC showed that in the homozygous situation this allelic variant would lead to Ficolin-3 deficiency. In conclusion an FCN3+1637delC deletion variant disrupting the possibility for pattern recognition was detected. Characterization of recombinant variant Ficolin-3 shows that homozygosity for the FCN3+1637delC deletion may lead to Ficolin-3 deficiency and may thus be the basis for a novel complement deficiency state Udgivelsesdato: 2008/5

AB - Ficolin-3 (Hakata antigen or H-ficolin) is a soluble pattern recognition molecule in the lectin complement pathway. We speculated whether common genetic variations in the FCN3 gene contribute to deficiency of Ficolin-3. The FCN3 gene was sequenced in 237 healthy Danish Caucasians. The relevance of polymorphisms was assessed with antibodies against Ficolin-3 in a novel ELISA system and by production of recombinant Ficolin-3 variants. Ficolin-3 serum profiles were analyzed by SDS-PAGE and western blotting. Ficolin-3 serum concentration varied 10-fold (median, 24microg/ml; range, 3-54microg/ml). Out of several polymorphisms one FCN3+1637delC causing a reading frame shift and a distortion of the C-terminal end of the molecule with an allele frequency of 0.011 was particularly interesting. In individuals heterozygous for the FCN3+1637delC deletion lowered Ficolin-3 concentration was observed (P=0.025). SDS-PAGE and western blotting of serum revealed a weak band corresponding to the truncated molecule in addition to the normal Ficolin-3 pattern. Characterization of recombinant Ficolin-3 derived from FCN3+1637delC showed that in the homozygous situation this allelic variant would lead to Ficolin-3 deficiency. In conclusion an FCN3+1637delC deletion variant disrupting the possibility for pattern recognition was detected. Characterization of recombinant variant Ficolin-3 shows that homozygosity for the FCN3+1637delC deletion may lead to Ficolin-3 deficiency and may thus be the basis for a novel complement deficiency state Udgivelsesdato: 2008/5

U2 - 10.1016/j.molimm.2007.12.012

DO - 10.1016/j.molimm.2007.12.012

M3 - Journal article

C2 - 18261799

VL - 45

SP - 2660

EP - 2666

JO - Molecular Immunology

JF - Molecular Immunology

SN - 0161-5890

IS - 9

ER -

ID: 10209251