OMIA 002524-68736 : Height, IGF1-AS-associated body-size variation in Lycalopex culpaeus
Category: Growth / size / body region phene
Links to MONDO diseases: No links.
Mendelian trait/disorder: unknown
Considered a defect: no
Species-specific description: Plassais et al. (2022): “Domestic dogs (Canis lupus familiaris) are the most variable-sized mammalian species on Earth … . Analyses of over 200 domestic breeds have identified approximately 20 body size genes … . Of these, insulin-like growth factor 1 (IGF1) predominates, controlling approximately 15% of body size variation between breeds [Plassais et al., 2019]. …, to identify and elucidate the role of an ancestral IGF1 allele in the propagation of modern canids, we analyzed 1,431 genome sequences from 13 species, including both ancient and modern canids, thus allowing us to define the evolutionary history of both ancestral and derived alleles at this locus. We identified a single variant [SNP rs22397284; chr15:41219654.g.T<C] …in an antisense long non-coding RNA (IGF1-AS) that interacts with the IGF1 gene, creating a duplex. While the derived mutation predominates in both modern gray wolves and large domestic breeds, the ancestral allele, which predisposes to small size, was common in small-sized breeds and smaller wild canids.”
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
|2022||Callaway, E. :|
|Big dog, little dog: mutation explains range of canine sizes. Nature :, 2022. Pubmed reference: 35087254. DOI: 10.1038/d41586-022-00209-0.|
|Plassais, J., vonHoldt, B.M., Parker, H.G., Carmagnini, A., Dubos, N., Papa, I., Bevant, K., Derrien, T., Hennelly, L.M., Whitaker, D.T., Harris, A.C., Hogan, A.N., Huson, H.J., Zaibert, V.F., Linderholm, A., Haile, J., Fest, T., Habib, B., Sacks, B.N., Benecke, N., Outram, A.K., Sablin, M.V., Germonpré, M., Larson, G., Frantz, L., Ostrander, E.A. :|
|Natural and human-driven selection of a single non-coding body size variant in ancient and modern canids. Curr Biol 32:889-897, 2022. Pubmed reference: 35090588. DOI: 10.1016/j.cub.2021.12.036.|
|2019||Plassais, J., Kim, J., Davis, B.W., Karyadi, D.M., Hogan, A.N., Harris, A.C., Decker, B., Parker, H.G., Ostrander, E.A. :|
|Whole genome sequencing of canids reveals genomic regions under selection and variants influencing morphology. Nat Commun 10:1489, 2019. Pubmed reference: 30940804. DOI: 10.1038/s41467-019-09373-w.|
- Created by Imke Tammen2 on 31 Jan 2022