Marjo K. Hytönen

The paper creates a transcription-based atlas of canine regulatory elements across tissues and development, identifying promoters and enhancers and their activity patterns.

This study identifies a nonsense mutation in the PRKG2 gene as the cause of chondrodysplasia in Dalmatian dogs, resolving a long-standing genetic mystery.

The paper investigates mutation rates in 43 dog breeds, finding stable rates influenced by parental age and breed-specific differences in mutation accumulation.

This paper identifies a homozygous nonsense variant in ITPR3 in Lancashire Heeler dogs causing enamel defects and nerve dysfunction, showing IP3R3 loss affects IP3R1 and IP3R2 levels and Ca2+ signaling.

The paper identifies a homozygous LDLR variant in Korat cats causing atherosclerosis, providing a model for studying human LDLR-related hypercholesterolemia and potential gene-editing therapies.

This study uses a genotype-first approach to identify new mutations related to craniofacial morphology and stature in dogs, highlighting the role of allelic heterogeneity in breed trait selection.

The paper identifies regulatory modules controlling dog color patterns and shows their evolutionary origin in extinct canids.