Chicken mannose-binding lectin (MBL) gene variants with influence on MBL serum concentrations

Rikke Munkholm Kjærup, Liselotte Rothmann Norup, Karsten Skjødt, Tina Sørensen Dalgaard, Helle Risdahl Juul-Madsen

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Resumé

Mannose-binding lectin (MBL) plays a major role in the innate immune defence by activating the lectin complement pathway or by acting as an opsonin. Two forms of MBL have been characterised from several species, but for humans and chickens, only one form of functional MBL has been described. The human MBL2 gene is highly polymorphic, and it causes varying MBL serum levels. Several of the single-nucleotide polymorphisms (SNPs) have been associated with the severity of diseases of bacterial, viral or parasitic origin. Association between various diseases and different MBL serum levels has also been identified in chickens. In this study, two inbred chicken lines (L10L and L10H) which have been selected for low and high MBL levels in serum and four other experimental chicken lines were analysed for polymorphism in the MBL gene. The presence of polymorphisms in the MBL gene was revealed by southern blot analyses, and the differences in the serum concentrations of MBL were found to be of transcriptional origin according to real-time quantitative reverse transcription PCR analysis. Several SNPs were discovered in the promoter and the 5' untranslated region of the chicken MBL gene which resulted in the identification of six different alleles. Mapping of regulatory elements in the promoter region was performed, and SNPs that could affect the MBL serum concentration were identified. One SNP that was found to be located in a TATA box was altered in one of the six alleles only. This allele was associated with low MBL serum concentration.
OriginalsprogEngelsk
TidsskriftImmunogenetics
Vol/bind65
Udgave nummer6
Sider (fra-til)461-471
ISSN0093-7711
DOI
StatusUdgivet - 2013

Fingeraftryk

Chickens
Serum
Single Nucleotide Polymorphism
Alleles
Opsonin Proteins
TATA Box
Parasitic Diseases
5' Untranslated Regions
Virus Diseases
Southern Blotting
Polymerase Chain Reaction

Citer dette

Kjærup, Rikke Munkholm ; Norup, Liselotte Rothmann ; Skjødt, Karsten ; Dalgaard, Tina Sørensen ; Juul-Madsen, Helle Risdahl. / Chicken mannose-binding lectin (MBL) gene variants with influence on MBL serum concentrations. I: Immunogenetics. 2013 ; Bind 65, Nr. 6. s. 461-471.
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abstract = "Mannose-binding lectin (MBL) plays a major role in the innate immune defence by activating the lectin complement pathway or by acting as an opsonin. Two forms of MBL have been characterised from several species, but for humans and chickens, only one form of functional MBL has been described. The human MBL2 gene is highly polymorphic, and it causes varying MBL serum levels. Several of the single-nucleotide polymorphisms (SNPs) have been associated with the severity of diseases of bacterial, viral or parasitic origin. Association between various diseases and different MBL serum levels has also been identified in chickens. In this study, two inbred chicken lines (L10L and L10H) which have been selected for low and high MBL levels in serum and four other experimental chicken lines were analysed for polymorphism in the MBL gene. The presence of polymorphisms in the MBL gene was revealed by southern blot analyses, and the differences in the serum concentrations of MBL were found to be of transcriptional origin according to real-time quantitative reverse transcription PCR analysis. Several SNPs were discovered in the promoter and the 5' untranslated region of the chicken MBL gene which resulted in the identification of six different alleles. Mapping of regulatory elements in the promoter region was performed, and SNPs that could affect the MBL serum concentration were identified. One SNP that was found to be located in a TATA box was altered in one of the six alleles only. This allele was associated with low MBL serum concentration.",
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Chicken mannose-binding lectin (MBL) gene variants with influence on MBL serum concentrations. / Kjærup, Rikke Munkholm; Norup, Liselotte Rothmann; Skjødt, Karsten; Dalgaard, Tina Sørensen; Juul-Madsen, Helle Risdahl.

I: Immunogenetics, Bind 65, Nr. 6, 2013, s. 461-471.

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

TY - JOUR

T1 - Chicken mannose-binding lectin (MBL) gene variants with influence on MBL serum concentrations

AU - Kjærup, Rikke Munkholm

AU - Norup, Liselotte Rothmann

AU - Skjødt, Karsten

AU - Dalgaard, Tina Sørensen

AU - Juul-Madsen, Helle Risdahl

PY - 2013

Y1 - 2013

N2 - Mannose-binding lectin (MBL) plays a major role in the innate immune defence by activating the lectin complement pathway or by acting as an opsonin. Two forms of MBL have been characterised from several species, but for humans and chickens, only one form of functional MBL has been described. The human MBL2 gene is highly polymorphic, and it causes varying MBL serum levels. Several of the single-nucleotide polymorphisms (SNPs) have been associated with the severity of diseases of bacterial, viral or parasitic origin. Association between various diseases and different MBL serum levels has also been identified in chickens. In this study, two inbred chicken lines (L10L and L10H) which have been selected for low and high MBL levels in serum and four other experimental chicken lines were analysed for polymorphism in the MBL gene. The presence of polymorphisms in the MBL gene was revealed by southern blot analyses, and the differences in the serum concentrations of MBL were found to be of transcriptional origin according to real-time quantitative reverse transcription PCR analysis. Several SNPs were discovered in the promoter and the 5' untranslated region of the chicken MBL gene which resulted in the identification of six different alleles. Mapping of regulatory elements in the promoter region was performed, and SNPs that could affect the MBL serum concentration were identified. One SNP that was found to be located in a TATA box was altered in one of the six alleles only. This allele was associated with low MBL serum concentration.

AB - Mannose-binding lectin (MBL) plays a major role in the innate immune defence by activating the lectin complement pathway or by acting as an opsonin. Two forms of MBL have been characterised from several species, but for humans and chickens, only one form of functional MBL has been described. The human MBL2 gene is highly polymorphic, and it causes varying MBL serum levels. Several of the single-nucleotide polymorphisms (SNPs) have been associated with the severity of diseases of bacterial, viral or parasitic origin. Association between various diseases and different MBL serum levels has also been identified in chickens. In this study, two inbred chicken lines (L10L and L10H) which have been selected for low and high MBL levels in serum and four other experimental chicken lines were analysed for polymorphism in the MBL gene. The presence of polymorphisms in the MBL gene was revealed by southern blot analyses, and the differences in the serum concentrations of MBL were found to be of transcriptional origin according to real-time quantitative reverse transcription PCR analysis. Several SNPs were discovered in the promoter and the 5' untranslated region of the chicken MBL gene which resulted in the identification of six different alleles. Mapping of regulatory elements in the promoter region was performed, and SNPs that could affect the MBL serum concentration were identified. One SNP that was found to be located in a TATA box was altered in one of the six alleles only. This allele was associated with low MBL serum concentration.

U2 - 10.1007/s00251-013-0689-6

DO - 10.1007/s00251-013-0689-6

M3 - Journal article

VL - 65

SP - 461

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JO - Immunogenetics

JF - Immunogenetics

SN - 0093-7711

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