OMIA 001258-9615 : Obesity in Canis lupus familiaris

In other species: pig , rabbit , domestic cat , horse

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 164160 (gene) , 614962 (trait)

Mendelian trait/disorder: no

Mode of inheritance: Multifactorial

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2016

Markers: Having conducted a case-control study involving 57 Labrador Retrievers affected with diabetes mellitus and 61 controls, Davison et al. (2017) reported that "There was no association between the presence of the POMC deletion mutation and DM in this population of Labrador retriever dogs", leading them to conclude that "This study adds to the existing scientific literature indicating that there is little evidence for a direct link between obesity and DM in dogs".

Molecular basis: Raffan et al. (2016) reported that "Sequencing of candidate genes for obesity in Labrador retriever dogs identified a 14 bp deletion in pro-opiomelanocortin (POMC) with an allele frequency of 12%. The deletion disrupts the β-MSH and β-endorphin coding sequences and is associated with body weight (per allele effect of 0.33 SD), adiposity, and greater food motivation. Among other dog breeds, the deletion was only found in the closely related flat-coat retriever (FCR), where it is similarly associated with body weight and food motivation"

Prevalence: Intriguingly, Raffan et al. (2016) reported that the frequency of the POMC deletion was 45% "in a group of 81 Labrador retrievers used as assistance dog breeding stock" compared with a frequency of around 12% in random samples of Labrador Retrievers. As the authors explain, "Temperament and ‘‘trainability’’ are the main drivers for selection of assistance dogs, and ‘‘positive reinforcement’’ with food reward is a mainstay of puppy training. We therefore hypothesize that dogs carrying the POMC deletion may be more likely to be selected as assistance dogs. The fact that the allelic frequency at this locus is significantly out of Hardy-Weinberg equilibrium in assistance dog breeding stock could be seen as support for the notion that selection has occurred at this locus."

Breed: Labrador Retriever.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
POMC proopiomelanocortin Canis lupus familiaris 17 NC_051821.1 (19713398..19706608) POMC Homologene, Ensembl, NCBI gene

Variants

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.

Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Labrador Retriever Obesity POMC deletion, small (<=20) CanFam3.1 17 g.19431807_19431821del p.(E188fs) 2016 27157046

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.
2021 Ronja, N., Kölle, P. :
Adipositas beim Hund – ein Überblick zu den Ursachen [Obesity in dogs - A review of underlying reasons]. Tierarztl Prax Ausg K Kleintiere Heimtiere 49:284-293, 2021. Pubmed reference: 34425607. DOI: 10.1055/a-1548-2293.
2020 Wallis, N., Raffan, E. :
The genetic basis of obesity and related metabolic diseases in humans and companion animals. Genes 11:1378, 2020. Pubmed reference: 33233816. DOI: 10.3390/genes11111378.
2017 Davison, L.J., Holder, A., Catchpole, B., O'Callaghan, C.A. :
The canine POMC gene, obesity in Labrador Retrievers and susceptibility to diabetes mellitus. J Vet Intern Med 31:343-348, 2017. Pubmed reference: 28176381. DOI: 10.1111/jvim.14636.
Mankowska, M., Krzeminska, P., Graczyk, M., Switonski, M. :
Confirmation that a deletion in the POMC gene is associated with body weight of Labrador Retriever dogs. Res Vet Sci 112:116-118, 2017. Pubmed reference: 28235700. DOI: 10.1016/j.rvsc.2017.02.014.
Mankowska, M., Nowacka-Woszuk, J., Graczyk, A., Ciazynska, P., Stachowiak, M., Switonski, M. :
Polymorphism and methylation of the MC4R gene in obese and non-obese dogs. Mol Biol Rep 44:333-339, 2017. Pubmed reference: 28755272. DOI: 10.1007/s11033-017-4114-3.
2016 Raffan, E., Dennis, R.J., O'Donovan, C.J., Becker, J.M., Scott, R.A., Smith, S.P., Withers, D.J., Wood, C.J., Conci, E., Clements, D.N., Summers, K.M., German, A.J., Mellersh, C.S., Arendt, M.L., Iyemere, V.P., Withers, E., Söder, J., Wernersson, S., Andersson, G., Lindblad-Toh, K., Yeo, G.S., O'Rahilly, S. :
A deletion in the canine POMC gene is associated with weight and appetite in obesity-prone Labrador Retriever dogs. Cell Metab 23:893-900, 2016. Pubmed reference: 27157046. DOI: 10.1016/j.cmet.2016.04.012.

Edit History


  • Created by Frank Nicholas on 19 May 2016
  • Changed by Frank Nicholas on 19 May 2016
  • Changed by Frank Nicholas on 19 Dec 2017
  • Changed by Frank Nicholas on 04 Mar 2020
  • Changed by Frank Nicholas on 27 Jan 2021
  • Changed by Imke Tammen2 on 26 Aug 2021