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A Genomic Duplication is Associated with Ectopic Eomesodermin Expression in the Embryonic Chicken Comb and Two Duplex-comb Phenotypes

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Dorshorst, Ben | Harun-Or-Rashid, Mohammad | Bagherpoor, Alireza Jian | Rubin, Carl-Johan | Ashwell, Chris | Gourichon, David | Tixier-Boichard, Michèle | Hallböök, Finn | Andersson, Leif

Edité par CCSD ; Public Library of Science -

International audience. There are three major variant comb types found in the domestic chicken; Rose-comb, Peacomb and Duplex-comb. Within the Duplex-comb there are two distinct types, V-shaped and Buttercup. Previous experiments have shown that these two Duplex-comb types represent different alleles at a single locus. We have mapped the location of the Duplex-comb locus and identified a 20 Kb duplication that is present only in chickens that have a Duplex-comb phenotype. The 20 Kb duplication is located 200 Kb upstream of EOMES, a gene that was found to be abnormally expressed in the comb-developing region of Vshaped and Buttercup comb chicken embryos. This suggests that the 20 Kb duplication contains regulatory elements affecting EOMES expression. These findings complete our characterization of the genetic basis of the three major comb loci in the chicken, all of which are caused by large-scale structural genomic variants that drive ectopic expression of transcription factors in the comb region during chicken embryo development

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