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Communication Dans Un Congrès Année : 2021

Heterologous hybridization using the human exome - a molecular tool to target and identify major genes

Résumé

Identifying causal mutations responsible of phenotypes in a time and cost-effective manner remains a challenge still for all species. Although the portfolio of next-generation sequencing methodologies offers a broad range of opportunities nowadays, having the right and suitable molecular genetic tools in non-model organisms is often an issue. For the European rabbit (Oryctolagus cuniculus), considered as an animal model for experimental research, the OryCun2.0 reference genome was released in 2009 and the Affymetrix AxiomOrcun SNP Array was made available in 2016. This novel beadchip gives the possibility to develop conveniently genome-wide association studies (GWAS) in rabbits without however freeing itself from the subsequent steps of causal mutation characterization. Whole exome sequencing (WES) appears as a direct and suitable strategy to target and sequence variants all at once. Unfortunately, no exome enrichment tool exist for rabbits. Here, we proposed to capture the rabbit exome using the marketed human panel since human and rabbit genomes are closely related on the phylogenetic tree of species. We performed heterologous hybridization for 48 rabbits from 7 different populations and generated 2 billion sequencing reads for the whole dataset. The quality of the heterologous hybridization allowed the capture of the rabbit exome and enabled a dataset of 40,000 confident variants that specifically target both protein-coding and extended exons. This method also presents a unique opportunity to investigate both (i) the genetic diversity of different rabbits’ breeds and (ii) the mendelian determinism of specific phenotypes in rabbits without resorting to costly customized tools.
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hal-03404641 , version 1 (26-10-2021)

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  • HAL Id : hal-03404641 , version 1

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Nathalie Iannuccelli, Cédric Cabau, Julien Sarry, Olivier Bouchez, Yvon Billon, et al.. Heterologous hybridization using the human exome - a molecular tool to target and identify major genes. World Rabbit Congress, Nov 2021, Nantes, France. ⟨hal-03404641⟩
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