OMIA 002524-9615 : Height, IGF1-AS-associated body-size variation in Canis lupus familiaris

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

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<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.”

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
IGF1-AS (LOC111090066) Canis lupus familiaris - no genomic information (-..-) IGF1-AS (LOC111090066) Ensembl


By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

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 2022 35090588


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.

Edit History

  • Created by Imke Tammen2 on 31 Jan 2022
  • Changed by Imke Tammen2 on 31 Jan 2022