American Paint (Horse) — Palomino (hereditary; OMIA-verified breed predisposition)

Source: first-hand OMIA (University of Sydney) breed-specific hereditary-disorder record, saved verbatim to source_file; every claim below is a C1 byte-substring of it.

Claims

Breed: American Paint (Horse)
Disorder: Palomino
Mode of inheritance: Autosomal
Summary: In 2003, Mariat et al. showed that this classic coat-colour locus encodes membrane-associated transporter protein (MATP), now renamed emSLC45A2/em, and that the first reported dilution allele in horses is due to a missense mutation [FN 16 Oct 2003].
Defect: no

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: MATP (Entrez Gene ID 5474234) — OMIA Phene_Gene / GeneSynonym
OMIA molecular-genetics note: Building on the strong evidence from mapping (see Mapping section above), Mariat et al. (2003) identified a missense G457A transition (omia.variant:153) in the equine <em>MATP</em> gene (now called <em>SLC45A2</em>), giving rise to a D153N amino acid substitution in cream horses. Sevane et al. (2019) reported a "missense variation in exon 4 [SLC45A2:c.985G>A; SLC45A2:p.(Ala329Thr), omia.variant…

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.

1951. New evidence on the genetics of the Palomino horse. J Hered — PubMed:PMID14832452 — OMIA Phene_Article / Article
2001. The cream dilution gene, responsible for the palomino and buckskin coat colours, maps to horse chromosome 21. Animal Genetics — PubMed:PMID11736803 — OMIA Phene_Article / Article
2003. A mutation in the MATP gene causes the cream coat colour in the horse. Genetics Selection Evolution — PubMed:PMID12605854 | DOI:10.1051/gse:2002039 — OMIA Phene_Article / Article
2008. Technical note: a novel method for routine genotyping of horse coat color gene polymorphisms. J Anim Sci — PubMed:PMID18310485 | DOI:10.2527/jas.2007-0498 — OMIA Phene_Article / Article
2009. Development of a method for simultaneously genotyping multiple horse coat colour loci and genetic investigation of basic colour variation in Thoroughbred and Misaki horses in Japan. J Anim Breed Genet — PubMed:PMID19912416 | DOI:10.1111/j.1439-0388.2009.00841.x — OMIA Phene_Article / Article
2009. Genetics. It's a bull's market. Science — PubMed:PMID19390037 | DOI:10.1126/science.1173880 — OMIA Phene_Article / Article
2009. Molecular tests for coat colours in horses. J Anim Breed Genet — PubMed:PMID19912415 | DOI:10.1111/j.1439-0388.2009.00832.x — OMIA Phene_Article / Article
2010. Pleiotropic effects of pigmentation genes in horses. Anim Genet — PubMed:PMID21070283 | DOI:10.1111/j.1365-2052.2010.02116.x — OMIA Phene_Article / Article
2010. [Molecular basis and applicability in equine color genetics]. Yi Chuan — PubMed:PMID21513164 — OMIA Phene_Article / Article
1946. Genetics of the Palomino horse; confirmation of the Salisbury-Britton hypothesis. J Hered — PubMed:PMID21025138 | DOI:10.1093/oxfordjournals.jhered.a105569 — OMIA Phene_Article / Article
1948. The Abc of color inheritance in horses. Genetics — PubMed:PMID17247268 | DOI:10.1093/genetics/33.1.22 — OMIA Phene_Article / Article
1961. The palomino horse. Genetics — PubMed:PMID13877241 | DOI:10.1093/genetics/46.9.1143 — OMIA Phene_Article / Article
(10 additional references in OMIA)

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:606574 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
OMIM:227240 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
OMIM:606202 (type: gene) — OMIA Group_OMIM (via OMIA_ID)

American Paint (Horse) — Palomino (hereditary; OMIA-verified breed predisposition)