Functional genomics

The molecular genetics of vertebrate longevity and aging

Lifespans vary greatly across vertebrates, ranging between a few months and several hundreds of years. In our research, we analyze the genomes of long-lived animals to get insights into the genetic mechanisms underlying longevity. In addition, we use the naturally short-lived African turquoise killifish (Nothobranchius furzeri) as a model organism to better understand the aging process.

Selected publications

• Fang et al. MicroRNA-guided prioritization of genome-wide association signals reveals the importance of microRNA-target gene networks for complex traits in cattle. Scientific Reports 8, 9345 (2018)
• Bouwman et al. Meta-analysis of genome-wide association studies for cattle stature identifies common genes that regulate body size in mammals. Nature Genetics 50, 362-367 (2018)
• Cai et al. The draft reference genome of the American mink (Neovison vison) opens new opportunities of genomic research in mink. Scientific Reports 6; 7(1):14564 (2017)
• Keane et al. Insights into the evolution of longevity from the bowhead whale genome. Cell Reports 10, 112-122 (2015)
• Groenen et al. Analyses of pig genomes provide insight into porcine demography and evolution. Nature 491, 393-398 (2012).
• Jensen et al. Gene expression profiling of porcine skeletal muscle in the early recovery phase following acute physical activity. Experimental Physiology 97, 833-848 (2012)
• Thomsen et al. Congenital Bovine Spinal Dysmyelination is caused by a missense mutation in the SPAST gene. Neurogenetics 11, 175-183 (2010)
• Nielsen et al. MicroRNA identity and abundance in porcine skeletal muscles determined by deep sequencing. Animal Genetics 41, 159–168 (2010)
• Sironen et al. Infertile Finnish Yorkshire boars carry a full-length LINE-1 retrotransposon within the KPL2 gene. Molecular Genetics and Genomics 278, 385-391 (2007)
• Thomsen et al. A missense mutation in the bovine SLC35A3 gene, encoding a UDP-N-acetylglucosamine transporter, causes complex vertebral malformation. Genome Research 16, 97-105 (2006)
• Sironen et al. An intronic insertion in KPL2 results in aberrant splicing and causes the immotile short-tail sperm defect in the pig. Proceedings of the National Academy of Sciences U S A. 103, 5006-5011 (2006)
• Nielsen et al. Abnormal growth plate function in pigs carrying a dominant mutation in type X collagen. Mammalian Genome 11, 1087-1092 (2000)