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An eQTL in the cystathionine beta synthase gene is linked to osteoporosis in laying hens

De Koning, Dirk-Jan and Dominguez-Gasca, Nazaret and Fleming, Robert H. and Gill, Andrew and Kurian, Dominic and Law, Andrew and McCormack, Heather A. and Morrice, David and Sanchez-Rodriguez, Estefania and Rodriguez-Navarro, Alejandro B. and Preisinger, Rudolf and Schmutz, Matthias and Smidova, Veronica and Turner, Frances and Wilson, Peter W. and Zhou, Rongyan and Dunn, Ian C. (2020). An eQTL in the cystathionine beta synthase gene is linked to osteoporosis in laying hens. Genetics Selection Evolution. 52 , 1-17
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Abstract

Background: Skeletal damage is a challenge for laying hens because the physiological adaptations required for egg laying make them susceptible to osteoporosis. Previously, we showed that genetic factors explain 40% of the variation in end of lay bone quality and we detected a quantitative trait locus (QTL) of large effect on chicken chromosome 1. The aim of this study was to combine data from the commercial founder White Leghorn population and the F2 mapping population to fine-map this QTL and understand its function in terms of gene expression and physiology.
Results: Several single nucleotide polymorphisms on chromosome 1 between 104 and 110 Mb (galGal6) had highly significant associations with tibial breaking strength. The alternative genotypes of markers of large effect that flanked the region had tibial breaking strengths of 200.4 vs. 218.1 Newton (P < 0.002) and, in a subsequent founder generation, the higher breaking strength genotype was again associated with higher breaking strength. In a subsequent generation, cortical bone density and volume were increased in individuals with the better bone genotype but with significantly reduced medullary bone quality. The effects on cortical bone density were confirmed in a further generation and was accompanied by increased mineral maturity of the cortical bone as measured by infrared spectrometry and there was evidence of better collagen cross-linking in the cortical bone. Comparing the transcriptome of the tibia from individuals with good or poor bone quality genotypes indicated four differentially-expressed genes at the locus, one gene, cystathionine beta synthase (CBS), having a nine-fold higher expression in the genotype for low bone quality. The mechanism was cis-acting and although there was an amino-acid difference in the CBS protein between the genotypes, there was no difference in the activity of the enzyme. Plasma homocysteine concentration, the substrate of CBS, was higher in the poor bone quality genotype.
Conclusions Validated markers that predict bone strength have been defined for selective breeding and a gene was identified that may suggest alternative ways to improve bone health in addition to genetic selection. The identification of how genetic variants affect different aspects of bone turnover shows potential for translational medicine.

Authors/Creators:De Koning, Dirk-Jan and Dominguez-Gasca, Nazaret and Fleming, Robert H. and Gill, Andrew and Kurian, Dominic and Law, Andrew and McCormack, Heather A. and Morrice, David and Sanchez-Rodriguez, Estefania and Rodriguez-Navarro, Alejandro B. and Preisinger, Rudolf and Schmutz, Matthias and Smidova, Veronica and Turner, Frances and Wilson, Peter W. and Zhou, Rongyan and Dunn, Ian C.
Title:An eQTL in the cystathionine beta synthase gene is linked to osteoporosis in laying hens
Year of publishing :2020
Volume:52
Page range:1-17
Number of Pages:17
Publisher:BMC
ISSN:0999-193X
Language:English
Publication Type:Journal article
Article category:Scientific peer reviewed
Version:Published version
Copyright:Creative Commons: Attribution 4.0
Full Text Status:Public
Subjects:(A) Swedish standard research categories 2011 > 4 Agricultural Sciences > 402 Animal and Dairy Science > Animal and Dairy Science.
Keywords:laying hens, poultry, skeletal damage, bone fractures, selective breeding
URN:NBN:urn:nbn:se:slu:epsilon-p-105223
Permanent URL:
http://urn.kb.se/resolve?urn=urn:nbn:se:slu:epsilon-p-105223
Additional ID:
Type of IDID
DOI10.1186/s12711-020-00532-y
Web of Science (WoS)000521002500001
ID Code:16908
Faculty:VH - Faculty of Veterinary Medicine and Animal Science
Department:(VH) > Dept. of Animal Breeding and Genetics
Deposited By: SLUpub Connector
Deposited On:07 May 2020 12:01
Metadata Last Modified:07 May 2020 12:01

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