Oryctolagus cuniculus breed:Netherlands dwarf rabbit Transcriptome or Gene expression

The dwarf phenotype characterizes the smallest of rabbit breeds and is governed by the effects of a single dwarfing allele. Dwarfs typically weight under 1 kg and have altered craniofacial morphology. The dwarf allele is a recessive lethal and homozygous individuals for this allele die within a few days of birth. The dwarf phenotype is expressed in heterozygous individuals and rabbits from dwarf breeds homozygous for the wild-type allele are normal rabbits (although smaller when compared to other breeds). Here, we show that the dwarf phenotype is caused by a ~12.1 kb deletion overlapping the promoter region and the first three exons of the HMGA2 gene, leading to gene inactivation. HMGA2 has been frequently associated with body size and homozygosity for null alleles are viable in mice but not in rabbits. To gain insights on how HMGA2 inactivation affects growth, viability and transcriptional regulation of interacting genes, we carried out RNA-seq analysis of rabbit embryos.

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