Dog (Canis lupus familiaris) — Reduced hair shedding, MC5R-related (hereditary; OMIA-verified species predisposition)
Source: first-hand OMIA (University of Sydney) species-specific hereditary-disorder record, saved verbatim to source_file; every claim below is a C1 byte-substring of it.
Claims
Species: Dog (Canis lupus familiaris)Disorder: Reduced hair shedding, MC5R-relatedMode of inheritance: The exact mode of inheritance for hair shedding has not been published. Hayward et al. (2016) documented epistatic interactions of MC5R with FGF5 and RSPO2, which also affect hair morphology in dogs.Clin feat: The derived allele at MC5R (237-Thr) is associated with reduced hair shedding and shorter hair length. However, epistatic interactions with the genotypes at MC5R, RSPO2 and FGF5 exist (Hayward et al. 2016).
Associated gene(s)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.
- Gene: Entrez Gene ID 388250420 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- OMIA molecular-genetics note: Hayward et al. (2016) included a missense variant in the MC5R gene (p.A237T) in their GWAS for hair length and extent of hair shedding that had previously been identified in village dogs. In both GWAS, this variant was the strongest associated marker. Based on in silico structure modeling Hayward et al. (2016) found "evidence that the A237T mutation causes a conformational change in the tertiary s…
Evidence (references)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.
- 2016. Complex disease and phenotype mapping in the domestic dog. Nat Commun — PubMed:PMID26795439 | DOI:10.1038/ncomms10460 — OMIA Phene_Article / Article
- 2025. Survey of functional Mendelian variants in New Zealand Huntaway and Heading dog breeds. Anim Genet — PubMed:PMID40965331 | DOI:10.1111/age.70042 — OMIA Phene_Article / Article
Comparative medicine (human OMIM)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.
- OMIM:600042 (type: gene) — OMIA Group_OMIM (via OMIA_ID)