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Genome-wide Association Studies and Fine Mapping for Spastic Syndrome in Holstein Cattle

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dc.contributor.advisor Schenkel, Flavio
dc.contributor.advisor Hanna, Brad Neustaeter, Anna 2015-05-07T17:59:10Z 2016-04-27T05:00:15Z 2015-04 2015-04-27 2015-05-07
dc.description.abstract This study investigated genetic contributions to North American Holsteins affected with Spastic Syndrome. The heritability estimate for the study population was 0.26. A GWAS via the generalized quasi-likelihood logistic regression on two animal cohorts genotyped with the 50k SNP panel and imputed high density SNP panel revealed six and 18 significant SNPs for the first cohort, and 98 and 522 significant SNPs for the second cohort. Significant regions were obtained on two chromosomes, with one QTL-like peak approximately 1 megabase pair (Mb) in length, and another in a QTL-like peak approximately 20 Mb in length. Functional and in silico analyses revealed seven candidate genes for both study populations. Candidate gene function involved neurons and skeletal muscle, with two genes appearing in both lists. One compelling candidate gene produces defects in ion channels which do not produce any histopathological changes. This study suggests Spastic Syndrome is multi-genic and neuromuscular in nature. en_US
dc.description.sponsorship NSERC, Canadian Dairy Network en_US
dc.language.iso en en_US
dc.subject Spastic Syndrome en_US
dc.subject Holstein en_US
dc.subject Fine mapping en_US
dc.subject QTL detection en_US
dc.subject imputation en_US
dc.subject crampy en_US
dc.subject candidate genes en_US
dc.title Genome-wide Association Studies and Fine Mapping for Spastic Syndrome in Holstein Cattle en_US
dc.type Thesis en_US Animal and Poultry Science en_US Master of Science en_US Department of Animal and Poultry Science en_US
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