OMIA:001545-9913 : Coat colour, dilution, PMEL-related in Bos taurus
In other species: domestic yak
Categories: Pigmentation phene
Possibly relevant human trait(s) and/or gene(s) (MIM number): 155550 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: no
Key variant known: yes
Year key variant first reported: 2007
Cross-species summary: FN acknowledges invaluable feedback from Cord Drögemüller that has led to the name of this phene being changed from "Coat colour, dilution" to "Coat colour, dilution, PMEL-related".
Molecular basis: Gutiérrez-Gil et al. (2007): c.64G>A
Jolly et al. (2008): c.50_52delTTC
Laible et al. (2021): "To better adapt dairy cattle to rapidly warming climates, we aimed to lighten their coat color by genome editing. ... Using gRNA/Cas9-mediated editing, we introduced a three bp deletion in the pre-melanosomal protein 17 gene (PMEL) proposed as causative variant for the semi-dominant color dilution phenotype observed in Galloway and Highland cattle. [Holstein Friesian] calves generated from cells with homozygous edits revealed a strong color dilution effect. ... This ... verified the causative nature of the PMEL mutation for diluting the black coat color in cattle." This study involves genetically modified organisms (GMO).
Kimura et al. (2022) reported that the dilute coat colour in the Kumamoto sub-breed of Japanese Brown cattle is due to the c.50_52del; p.(L19del) PMEL variant (OMIA variant 484).
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|PMEL||premelanosome protein||Bos taurus||5||NC_037332.1 (57344579..57353378)||PMEL||Homologene, Ensembl , NCBI gene|
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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|
|484||Charolais (Cattle) Galloway (Cattle) Hereford (Cattle) Highland (Cattle) Japanese Brown, Japan (Cattle) Simmental (Cattle)||Coat colour, dilution||PMEL||deletion, small (<=20)||Naturally occurring variant||ARS-UCD1.2||5||g.57345302_57345304del||c.50_52del||p.(L19del)||rs385468954||2008||18408794||Breed and variant information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)|
|774||Charolais (Cattle)||Coat colour, dilution||PMEL||missense||Naturally occurring variant||ARS-UCD1.2||5||g.57345315G>A||c.64G>A||p.(G22R)||rs718553050||rs718553050||2007||17705851||Breed and variant information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)|
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||Kimura, S., Hatakeyama, T., Koutaka, T., Kubo, K., Morita, S., Eguchi, K., Saitoh, K., Yamauchi, K., Imai, S., Kashimura, A., Inenaga, T., Matsumoto, H. :|
|PMEL p.Leu18del dilutes coat color of Kumamoto sub-breed of Japanese Brown cattle. BMC Genomics 23:694, 2022. Pubmed reference: 36207673 . DOI: 10.1186/s12864-022-08916-8.|
|2021||Bovo, S., Schiavo, G., Kazemi, H., Moscatelli, G., Ribani, A., Ballan, M., Bonacini, M., Prandi, M., Dall'Olio, S., Fontanesi, L. :|
|Exploiting within-breed variability in the autochthonous Reggiana breed identified several candidate genes affecting pigmentation-related traits, stature and udder defects in cattle. Anim Genet 52:579-97, 2021. Pubmed reference: 34182594 . DOI: 10.1111/age.13109.|
|Laible, G., Cole, S.A., Brophy, B., Wei, J., Leath, S., Jivanji, S., Littlejohn, M.D., Wells, D.N. :|
|Holstein Friesian dairy cattle edited for diluted coat color as a potential adaptation to climate change. BMC Genomics 22:856, 2021. Pubmed reference: 34836496 . DOI: 10.1186/s12864-021-08175-z.|
|Rowan, T.N., Durbin, H.J., Seabury, C.M., Schnabel, R.D., Decker, J.E. :|
|Powerful detection of polygenic selection and evidence of environmental adaptation in US beef cattle. PLoS Genet 17:e1009652, 2021. Pubmed reference: 34292938 . DOI: 10.1371/journal.pgen.1009652.|
|2020||Knaust, J., Weikard, R., Albrecht, E., Brunner, R.M., Günther, J., Kühn, C. :|
|Indication of premelanosome protein (PMEL) expression outside of pigmented bovine skin suggests functions beyond eumelanogenesis. Genes (Basel) 11:788, 2020. Pubmed reference: 32668786 . DOI: 10.3390/genes11070788.|
|2015||Mészáros, G., Petautschnig, E., Schwarzenbacher, H., Sölkner, J. :|
|Genomic regions influencing coat color saturation and facial markings in Fleckvieh cattle. Anim Genet 46:65-8, 2015. Pubmed reference: 25515556 . DOI: 10.1111/age.12249.|
|2013||Druet, T., Pérez-Pardal, L., Charlier, C., Gautier, M. :|
|Identification of large selective sweeps associated with major genes in cattle. Anim Genet 44:758-62, 2013. Pubmed reference: 23859468 . DOI: 10.1111/age.12073.|
|Schmutz, S.M., Dreger, D.L. :|
|Interaction of MC1R and PMEL alleles on solid coat colors in Highland cattle. Anim Genet 44:9-13, 2013. Pubmed reference: 22524257 . DOI: 10.1111/j.1365-2052.2012.02361.x.|
|2008||Jolly, RD., Wills, JL., Kenny, JE., Cahill, JI., Howe, L. :|
|Coat-colour dilution and hypotrichosis in Hereford crossbred calves. N Z Vet J 56:74-7, 2008. Pubmed reference: 18408794 . DOI: 10.1080/00480169.2008.36812.|
|2007||Gutiérrez-Gil, B., Wiener, P., Williams, J.L. :|
|Genetic effects on coat colour in cattle: dilution of eumelanin and phaeomelanin pigments in an F2-Backcross Charolais x Holstein population. BMC Genet 8:56, 2007. Pubmed reference: 17705851 . DOI: 10.1186/1471-2156-8-56.|
|Kühn, C.h., Weikard, R. :|
|An investigation into the genetic background of coat colour dilution in a Charolais x German Holstein F2 resource population. Anim Genet 38:109-13, 2007. Pubmed reference: 17302792 . DOI: 10.1111/j.1365-2052.2007.01569.x.|
|2004||Guibert, S., Girardot, M., Leveziel, H., Julien, R., Oulmouden, A. :|
|Pheomelanin coat colour dilution in French cattle breeds is not correlated with the TYR, TYRP1 and DCT transcription levels. Pigment Cell Res 17:337-45, 2004. Pubmed reference: 15250935 . DOI: 10.1111/j.1600-0749.2004.00152.x.|
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