OMIA:002524-9615 : Height, IGF1-AS-associated body-size variation in Canis lupus familiaris (dog) |
In other species: gray wolf , coyote , African hunting dog , Ethiopian wolf , red wolf , gray fox , side-striped jackal , black-backed jackal , dhole , Culpeo , island gray fox , African golden wolf
Categories: Growth / size / body region phene
Links to MONDO diseases: No links.
Mendelian trait/disorder: no
Mode of inheritance: Multifactorial
Considered a defect: no
Key variant known: yes
Year key variant first reported: 2022
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
Genetic engineering:
Unknown
Associated gene:
Have human generated variants been created, e.g. through genetic engineering and gene editing
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| IGF1-AS (LOC111090066) | Canis lupus familiaris | - | no genomic information (-..-) | IGF1-AS (LOC111090066) | Ensembl |
Variants
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
| OMIA Variant ID | Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Source of Genetic Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Inferred EVA rsID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1422 | Height, IGF1-AS related | IGF1-AS (LOC111090066) | regulatory | Naturally occurring variant | CanFam3.1 | 15 | g.41219654T>C | r.1043T>C | XR_002614246.1; C allele associated with smaller height, T allele associated with larger height | rs22397284 | rs22397284 | 2022 | 35090588 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2022). OMIA:002524-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
References
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.
| 2023 | Meadows, J.R.S., Kidd, J.M., Wang, G.D., Parker, H.G., Schall, P.Z., Bianchi, M., Christmas, M.J., Bougiouri, K., Buckley, R.M., Hitte, C., Nguyen, A.K., Wang, C., Jagannathan, V., Niskanen, J.E., Frantz, L.A.F., Arumilli, M., Hundi, S., Lindblad-Toh, K., Ginja, C., Agustina, K.K., André, C., Boyko, A.R., Davis, B.W., Drögemüller, M., Feng, X.Y., Gkagkavouzis, K., Iliopoulos, G., Harris, A.C., Hytönen, M.K., Kalthoff, D.C., Liu, Y.H., Lymberakis, P., Poulakakis, N., Pires, A.E., Racimo, F., Ramos-Almodovar, F., Savolainen, P., Venetsani, S., Tammen, I., Triantafyllidis, A., vonHoldt, B., Wayne, R.K., Larson, G., Nicholas, F.W., Lohi, H., Leeb, T., Zhang, Y.P., Ostrander, E.A. : |
| Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture. Genome Biol 24:187, 2023. Pubmed reference: 37582787. DOI: 10.1186/s13059-023-03023-7. | |
| 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. |
Edit History
- Created by Imke Tammen2 on 31 Jan 2022
- Changed by Imke Tammen2 on 31 Jan 2022