Phenotypic and genetic characterization of a novel phenotype in pigs characterized by juvenile hairlessness and age dependent emphysema

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Phenotypic and genetic characterization of a novel phenotype in pigs characterized by juvenile hairlessness and age dependent emphysema. / Bruun, Camilla Vibeke Sichlau; Jørgensen, Claus Bøttcher; Bay, Lene; Cirera Salicio, Susanna; Jensen, Henrik Michael Elvang; Leifsson, Pall Skuli; Nielsen, Jens; Christensen, Knud; Fredholm, Merete.

In: BMC Genomics, Vol. 9, No. 283, 2008.

Research output: Contribution to journalJournal articleResearchpeer-review

Harvard

Bruun, CVS, Jørgensen, CB, Bay, L, Cirera Salicio, S, Jensen, HME, Leifsson, PS, Nielsen, J, Christensen, K & Fredholm, M 2008, 'Phenotypic and genetic characterization of a novel phenotype in pigs characterized by juvenile hairlessness and age dependent emphysema', BMC Genomics, vol. 9, no. 283. https://doi.org/10.1186/1471-2164-9-283

APA

Bruun, C. V. S., Jørgensen, C. B., Bay, L., Cirera Salicio, S., Jensen, H. M. E., Leifsson, P. S., ... Fredholm, M. (2008). Phenotypic and genetic characterization of a novel phenotype in pigs characterized by juvenile hairlessness and age dependent emphysema. BMC Genomics, 9(283). https://doi.org/10.1186/1471-2164-9-283

Vancouver

Bruun CVS, Jørgensen CB, Bay L, Cirera Salicio S, Jensen HME, Leifsson PS et al. Phenotypic and genetic characterization of a novel phenotype in pigs characterized by juvenile hairlessness and age dependent emphysema. BMC Genomics. 2008;9(283). https://doi.org/10.1186/1471-2164-9-283

Author

Bruun, Camilla Vibeke Sichlau ; Jørgensen, Claus Bøttcher ; Bay, Lene ; Cirera Salicio, Susanna ; Jensen, Henrik Michael Elvang ; Leifsson, Pall Skuli ; Nielsen, Jens ; Christensen, Knud ; Fredholm, Merete. / Phenotypic and genetic characterization of a novel phenotype in pigs characterized by juvenile hairlessness and age dependent emphysema. In: BMC Genomics. 2008 ; Vol. 9, No. 283.

Bibtex

@article{49acdb70a1c411ddb6ae000ea68e967b,
title = "Phenotypic and genetic characterization of a novel phenotype in pigs characterized by juvenile hairlessness and age dependent emphysema",
abstract = "Background: A pig phenotype characterized by juvenile hairlessness, thin skin and age dependent lung emphysema has been discovered in a Danish pig herd. The trait shows autosomal co-dominant inheritance with all three genotypes distinguishable. Since the phenotype shows resemblance to the integrin {\ss}6-/- knockout phenotype seen in mice, the two genes encoding the two subunits of integrin av{\ss}6, i.e. ITGB6 and ITGAV, were considered candidate genes for this trait.Results: The mutated pig phenotype is characterized by hairlessness until puberty, thin skin with few hair follicles and absence of musculi arrectores pili, and at puberty or later localized areas of emphysema are seen in the lungs. Comparative mapping predicted that the porcine ITGB6 and ITGAV orthologs map to SSC15. In an experimentall family (n=113), showing segregation of the trait, the candidate region was confirmed by linkage analysis with four microsatellite markers. Mapping of the porcine ITGB6 and ITGAV in the IMpRH radiation hybrid panel confirmed the comparative mapping information. Sequencing of the ITGB6 and ITGAV coding sequences from affected and normal pigs revealed no evidence of a causative mutation, but alternative splicing of the ITGB6 pre-mRNA was detected. For both ITGB6 and ITGAV quantitative PCR revealed no significant difference in the expression levels in normal and affected animals. In a western blot, ITGB6 was detected in lung protein samples of all three genotypes. This result was supported by flow cytometric analyses which showed comparable reactions of kidney cells from affected and normal pigs with an integrin av{\ss}6 monoclonal antibody. Also, immunohistochemical staining of lung tissue with an integrin {\ss}6 antiboty showed immunoreaction in both normal and affected pigs.Conclusion: A phenotype resembling the integrin {\ss}6-/- knockout phenotype seen in mice has been characterized in the pig. The candidate region on SSC15 has been confirmed by linkage analysis but molecular and functional analyses have excluded that the mutated phenotype is caused by structural mutations in or ablation of any of the two candidate genes.",
author = "Bruun, {Camilla Vibeke Sichlau} and J{\o}rgensen, {Claus B{\o}ttcher} and Lene Bay and {Cirera Salicio}, Susanna and Jensen, {Henrik Michael Elvang} and Leifsson, {Pall Skuli} and Jens Nielsen and Knud Christensen and Merete Fredholm",
year = "2008",
doi = "10.1186/1471-2164-9-283",
language = "English",
volume = "9",
journal = "B M C Genomics",
issn = "1471-2164",
publisher = "BioMed Central Ltd.",
number = "283",

}

RIS

TY - JOUR

T1 - Phenotypic and genetic characterization of a novel phenotype in pigs characterized by juvenile hairlessness and age dependent emphysema

AU - Bruun, Camilla Vibeke Sichlau

AU - Jørgensen, Claus Bøttcher

AU - Bay, Lene

AU - Cirera Salicio, Susanna

AU - Jensen, Henrik Michael Elvang

AU - Leifsson, Pall Skuli

AU - Nielsen, Jens

AU - Christensen, Knud

AU - Fredholm, Merete

PY - 2008

Y1 - 2008

N2 - Background: A pig phenotype characterized by juvenile hairlessness, thin skin and age dependent lung emphysema has been discovered in a Danish pig herd. The trait shows autosomal co-dominant inheritance with all three genotypes distinguishable. Since the phenotype shows resemblance to the integrin ß6-/- knockout phenotype seen in mice, the two genes encoding the two subunits of integrin avß6, i.e. ITGB6 and ITGAV, were considered candidate genes for this trait.Results: The mutated pig phenotype is characterized by hairlessness until puberty, thin skin with few hair follicles and absence of musculi arrectores pili, and at puberty or later localized areas of emphysema are seen in the lungs. Comparative mapping predicted that the porcine ITGB6 and ITGAV orthologs map to SSC15. In an experimentall family (n=113), showing segregation of the trait, the candidate region was confirmed by linkage analysis with four microsatellite markers. Mapping of the porcine ITGB6 and ITGAV in the IMpRH radiation hybrid panel confirmed the comparative mapping information. Sequencing of the ITGB6 and ITGAV coding sequences from affected and normal pigs revealed no evidence of a causative mutation, but alternative splicing of the ITGB6 pre-mRNA was detected. For both ITGB6 and ITGAV quantitative PCR revealed no significant difference in the expression levels in normal and affected animals. In a western blot, ITGB6 was detected in lung protein samples of all three genotypes. This result was supported by flow cytometric analyses which showed comparable reactions of kidney cells from affected and normal pigs with an integrin avß6 monoclonal antibody. Also, immunohistochemical staining of lung tissue with an integrin ß6 antiboty showed immunoreaction in both normal and affected pigs.Conclusion: A phenotype resembling the integrin ß6-/- knockout phenotype seen in mice has been characterized in the pig. The candidate region on SSC15 has been confirmed by linkage analysis but molecular and functional analyses have excluded that the mutated phenotype is caused by structural mutations in or ablation of any of the two candidate genes.

AB - Background: A pig phenotype characterized by juvenile hairlessness, thin skin and age dependent lung emphysema has been discovered in a Danish pig herd. The trait shows autosomal co-dominant inheritance with all three genotypes distinguishable. Since the phenotype shows resemblance to the integrin ß6-/- knockout phenotype seen in mice, the two genes encoding the two subunits of integrin avß6, i.e. ITGB6 and ITGAV, were considered candidate genes for this trait.Results: The mutated pig phenotype is characterized by hairlessness until puberty, thin skin with few hair follicles and absence of musculi arrectores pili, and at puberty or later localized areas of emphysema are seen in the lungs. Comparative mapping predicted that the porcine ITGB6 and ITGAV orthologs map to SSC15. In an experimentall family (n=113), showing segregation of the trait, the candidate region was confirmed by linkage analysis with four microsatellite markers. Mapping of the porcine ITGB6 and ITGAV in the IMpRH radiation hybrid panel confirmed the comparative mapping information. Sequencing of the ITGB6 and ITGAV coding sequences from affected and normal pigs revealed no evidence of a causative mutation, but alternative splicing of the ITGB6 pre-mRNA was detected. For both ITGB6 and ITGAV quantitative PCR revealed no significant difference in the expression levels in normal and affected animals. In a western blot, ITGB6 was detected in lung protein samples of all three genotypes. This result was supported by flow cytometric analyses which showed comparable reactions of kidney cells from affected and normal pigs with an integrin avß6 monoclonal antibody. Also, immunohistochemical staining of lung tissue with an integrin ß6 antiboty showed immunoreaction in both normal and affected pigs.Conclusion: A phenotype resembling the integrin ß6-/- knockout phenotype seen in mice has been characterized in the pig. The candidate region on SSC15 has been confirmed by linkage analysis but molecular and functional analyses have excluded that the mutated phenotype is caused by structural mutations in or ablation of any of the two candidate genes.

U2 - 10.1186/1471-2164-9-283

DO - 10.1186/1471-2164-9-283

M3 - Journal article

C2 - 18549483

VL - 9

JO - B M C Genomics

JF - B M C Genomics

SN - 1471-2164

IS - 283

ER -

ID: 8113588