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Mutations in two genetic regions in dogs explain over one third of the risk of developing an aggressive form of hematological cancer, according to a study led by Jacquelyn Evans and Elaine Ostrander at the National Human Genome Research Institute in Maryland, USA and colleagues. The study, which combined multiple sequencing techniques to investigate histiocytic sarcoma in retriever dogs, publishes May 13 in the open-access journal
PLOS Genetics.
Histiocytic sarcoma is an aggressive cancer of immune cells, and although extremely rare in humans, it affects around one-in-five flat-coated retrievers. Genome-wide association surveys of 177 affected and 132 unaffected flat-coated retrievers identified two loci on chromosomes 5 and 19 of the canine genome associated with histiocytic sarcoma. Whole genome, transcriptome, and chromatin immunoprecipitation (CHiP) sequence data revealed that the CFA5 locus contains mutations near a known tumor-suppressor gene, PIK3R6. CFA5 also