Détection et caractérisation de variants structuraux dans le génome d’une lignée de poules pondeuse

Abstract : Copy number variants (CNV) are insertions or deletions of 50 consecutive bases or more and are an important source of genetic diversity. Because of their sheer size, their impact on phenotypes can be important. Here we performed CNV detection on the genome of 50 chicken from a line of laying hens (Rhode Island). The detection was perfomed with three tools combining two methods of detection: paired-end mapping and split-read analysis. In total about 50000 deletions were identified, covering about 3% of the genome and ranging in length from one base to a few megabases. Association analysis were performed for 7 traits, egg weight, shell color, egg shell resistance, deformation, diameter, albumen height and shape index. 23 deletions located in 16 genes were identified. The deletions were also compared to GWAS results and 73 of the deletions in linkage disequilibrium with significant SNP were located in genes. Finally, the deletions were compared to a list of genes involved in egg shell formation 66 genes were impacted by deletions from all three tools. In conclusion, interesting variants have been identified and this study gives a first overview of CNV in this line of chicken.
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Morgane Gaudin. Détection et caractérisation de variants structuraux dans le génome d’une lignée de poules pondeuse. Sciences du Vivant [q-bio]. 2018. ⟨dumas-01961544⟩

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