Heterogeneity of a dwarf phenotype in Dutch traditional chicken breeds revealed by genomic analyses

Growth of animals is a complex trait, in chicken resulting in a diverse variety of forms, caused by a heterogenous genetic basis. Bantam chicken, known as an exquisite form of dwarfism, have been used for crossbreeding to create corresponding dwarf counterparts for native fowls in the Dutch population. Here we demonstrate the heterogeneity of the bantam trait in Dutch chickens and reveal the underlying genetic causes, using whole-genome sequence data from matching pairs of bantam and normal-sized breeds. During the bantam oriented crossbreeding, various bantam origins were used to introduce the bantam phenotype, three major bantam sources were identified and clustered. The genome-wide association studies revealed multiple genetic variants and genes associated with bantam phenotype, including HMGA2 and PRDM16, genes involved in body growth and stature. The comparison of associated variants among studies illustrated differences related with divergent bantam origins, suggesting a clear heterogeneity among bantam breeds. We show that in neo-bantam breeds, the bantam-related regions underwent a strong haplotype introgression from the bantam source, outcompeting haplotypes from the normal-sized counterpart. The bantam heterogeneity is further confirmed by the presence of multiple haplotypes comprising associated alleles, which suggests the selection of the bantam phenotype is likely subject to a convergent direction across populations. Our study demonstrates that the diverse history of human-mediated crossbreeding has contributed to the complexity and the heterogeneity of the bantam phenotype.Key words: chicken, dwarfism, bantam, heterogeneity, whole-genome sequencing, genome-wide association study, convergent selection