OMIA:001576-9913 : Coat colour, colour-sided in Bos taurus
In other species: domestic yak
Categories: Pigmentation phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 172800 (trait) , 164920 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Considered a defect: no
Key variant known: yes
Year key variant first reported: 2011
Species-specific name: Color-sided
Molecular basis: As reported by Pennisi (2011), at the Biology of Genomes meeting at Cold Spring Harbor in May 2011, Durkin (2011) presented a poster reporting that the dorsal white stripe in cattle (called "colour-sided"), which maps to chromosome BTA29, appears to be due to the insertion of a duplicated 480kb fragment of DNA from BTA6 that includes the KIT gene but not all its regulators. The stripe appears to result from the at-least-partially unregulated expression of the translocated KIT. Interestingly, the gene order in the translocated segment on BTA29 is different from the gene order on BTA6, consistent with the duplicated region forming a loop which broke at a different location before being inserted in BTA29. Durkin (2011) also reported evidence that copies of the translocated fragment had escaped from BTA29, formed loops, and then were inserted alongside the original fragment on BTA6. This is the first report of such a phenomenon. Georges (2012) reported further on this phenomenon. A full account is provided by Durkin et al. (2012) who summarised the results as "colour sidedness is determined by a first allele on chromosome 29 (Cs(29)), which results from the translocation of a 492-kilobase chromosome 6 segment encompassing KIT to chromosome 29, and a second allele on chromosome 6 (Cs(6)), derived from the first by repatriation of fused 575-kilobase chromosome 6 and 29 sequences to the KIT locus. We provide evidence that both translocation events involved circular intermediates. This is the first example, to our knowledge, of a phenotype determined by homologous yet non-syntenic alleles that result from a novel copy-number-variant-generating mechanism."
The same unusual mutation [called Cs(29)] was observed by Brenig et al. (2013) in two other breeds: "Homozygous (Cs(29) /Cs(29) ) White Galloway cattle and White Park cattle exhibit the [white] mismarked phenotype, whereas heterozygous (Cs(29) /[wild-type]wt(29) ) [white] individuals are either well or strongly marked. In contrast, fully black individuals are characterised by [homozygosity for] the wild-type chromosome 29."
Medugorac et al. (2017) provided evidence that the colour-sided variant has been introgressed from Mongolian Turano cattle into Mongolian yaks, with which they have been herded form more than 1,500 years, enabling the backcrossing of female yak-cattle hybrids to male yaks.
Artesi et al. (2020) discovered that the KIT^PINZ variant reported by Kuttel et al. (2019) as being causative for a form of colour-sidedness in Pinzgauer cattle (see OMIA 001737-9913) is also responsible for the same phenotype in Gloucester cattle.
Breeds: Belgian Blue (Cattle) (VBO_0000139), Brown Swiss (Cattle) (VBO_0000166), Galloway (Cattle) (VBO_0000207), White Park, United Kingdom of Great Britain and Northern Ireland (Cattle) (VBO_0004345).
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|KIT||KIT proto-oncogene receptor tyrosine kinase||Bos taurus||6||NC_037333.1 (70166681..70254049)||KIT||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|
|749||Belgian Blue (Cattle) Brown Swiss (Cattle) Galloway (Cattle) White Park, United Kingdom of Great Britain and Northern Ireland (Cattle)||Coat colour, colour-sided||KIT||Cs(29)||complex rearrangement||Naturally occurring variant||29||Durkin et al. (2012): "colour sidedness is determined by a first allele on chromosome 29 (Cs(29)), which results from the translocation of a 492-kilobase chromosome 6 segment encompassing KIT to chromosome 29, and a second allele on chromosome 6 (Cs(6)), derived from the first by repatriation of fused 575-kilobase chromosome 6 and 29 sequences to the KIT locus. We provide evidence that both translocation events involved circular intermediates. This is the first example, to our knowledge, of a phenotype determined by homologous yet non-syntenic alleles that result from a novel copy-number-variant-generating mechanism."||2012||22297974|
|1133||Belgian Blue (Cattle) Brown Swiss (Cattle)||Coat colour, colour-sided||KIT||Cs(6)||complex rearrangement||Naturally occurring variant||6||Durkin et al. (2012): "colour sidedness is determined by a first allele on chromosome 29 (Cs(29)), which results from the translocation of a 492-kilobase chromosome 6 segment encompassing KIT to chromosome 29, and a second allele on chromosome 6 (Cs(6)), derived from the first by repatriation of fused 575-kilobase chromosome 6 and 29 sequences to the KIT locus. We provide evidence that both translocation events involved circular intermediates. This is the first example, to our knowledge, of a phenotype determined by homologous yet non-syntenic alleles that result from a novel copy-number-variant-generating mechanism."||2012||22297974|
|1116||Berrenda en Negro, Spain (Cattle) Cikasto govedo, Slovenia (Cattle) Evolèner, Switzerland (Cattle) Gloucester, United Kingdom of Great Britain and Northern Ireland (Cattle) Herens (Cattle) Pinzgau (Cattle) Tux-Zillertaler, Austria (Cattle)||Pinzgauer spotting||KIT||KIT^PINZ||complex rearrangement||Naturally occurring variant||6||Briefly: the KIT^PINZ variant is "characterized by the fusion of a duplicated chromosome 4 segment into a deleted part of chromosome 6." (Küttel et al., 2019) In more detail: "a complex structural variant characterized by a ~9.4-kb deletion . . . and in silico evidence for a duplication of ~1.5 kb about 34 kb farther downstream . . . . Apparently, the duplicated copy of the ~1.5-kb segment appears inversely inserted at the upstream breakpoint of the ~9.4-kb deletion . . . . Furthermore, we noticed at the upstream breakpoint of the inversely inserted segment chimeric read pairs in which both ends mapped to chromosome 6 and 4 . . . . The inspection of the sequence coverage of the involved genome region on chromosome 4 indicated a ~310-kb duplication from 84 864 544 to ~85 174 000 bp". (Küttel et al., 2019)||2019||31294880|
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||Kunene, L.M., Muchadeyi, F.C., Hadebe, K., Mészáros, G., Sölkner, J., Dugmore, T., Dzomba, E.F. :|
|Genetics of base coat colour variations and coat colour-patterns of the South African Nguni cattle investigated using high-density SNP genotypes. Front Genet 13:832702, 2022. Pubmed reference: 35747604 . DOI: 10.3389/fgene.2022.832702.|
|2020||Artesi, M., Tamma, N., Deckers, M., Karim, L., Coppieters, W., Van den Broeke, A., Georges, M., Charlier, C., Durkin, K. :|
|Colour-sidedness in Gloucester cattle is associated with a complex structural variant impacting regulatory elements downstream of KIT. Anim Genet 51:461-465, 2020. Pubmed reference: 32281117 . DOI: 10.1111/age.12932.|
|2017||Medugorac, I., Graf, A., Grohs, C., Rothammer, S., Zagdsuren, Y., Gladyr, E., Zinovieva, N., Barbieri, J., Seichter, D., Russ, I., Eggen, A., Hellenthal, G., Brem, G., Blum, H., Krebs, S., Capitan, A. :|
|Whole-genome analysis of introgressive hybridization and characterization of the bovine legacy of Mongolian yaks. Nat Genet 49:470-475, 2017. Pubmed reference: 28135247 . DOI: 10.1038/ng.3775.|
|Szczerbal, I., Robinson, T.J., Duran, A., Davey, S.C., Andersson, M., Switonski, M. :|
|Ectopic position of duplicated KIT gene in African Nguni cattle, associated with color sidedness, confirms its shared ancestry with the Bos taurus lineage. Anim Genet 48:122-123, 2017. Pubmed reference: 27615384 . DOI: 10.1111/age.12495.|
|2013||Brenig, B., Beck, J., Floren, C., Bornemann-Kolatzki, K., Wiedemann, I., Hennecke, S., Swalve, H., Schütz, E. :|
|Molecular genetics of coat colour variations in White Galloway and White Park cattle. Anim Genet :, 2013. Pubmed reference: 23418861 . DOI: 10.1111/age.12029.|
|2012||Durkin, K., Coppieters, W., Drögemüller, C., Ahariz, N., Cambisano, N., Druet, T., Fasquelle, C., Haile, A., Horin, P., Huang, L., Kamatani, Y., Karim, L., Lathrop, M., Moser, S., Oldenbroek, K., Rieder, S., Sartelet, A., Sölkner, J., Stålhammar, H., Zelenika, D., Zhang, Z., Leeb, T., Georges, M., Charlier, C. :|
|Serial translocation by means of circular intermediates underlies colour sidedness in cattle. Nature 482:81-4, 2012. Pubmed reference: 22297974 . DOI: 10.1038/nature10757.|
|Georges, M. :|
|Serial Translocation via Circular Intermediates Underlies Color Sidedness in Cattle Plant & Animal Genome (PAG) XX :Abstract 155, 2012.|
|2011||Durkin, K. :|
|Molecular dissection of the color-sided phenotype in cattle reveals a novel mechanism of chromosome evolution involving circular shuttling intermediates Biology of Genomes meeting, Cold Spring Harbor, 10-14 May 2011 Abstract:, 2011.|
|Pennisi, E. :|
|The Biology of Genomes. DNA circles cause cow coat color changes. Science 332:1030, 2011. Pubmed reference: 21617054 . DOI: 10.1126/science.332.6033.1030-a.|
|2000||Kantanen, J., Olsaker, I., Brusgaard, K., Eythorsdottir, E., Holm, LE., Lien, S., Danell, B., Adalsteinsson, S. :|
|Frequencies of genes for coat colour and horns in Nordic cattle breeds. Genet Sel Evol 32:561-76, 2000. Pubmed reference: 14736370 . DOI: 10.1051/gse:2000137.|
|1960||Berge, S. :|
|Arv av sidet farge ved kryssing til flekket og ensfarget [The inheritance of colour-sided patterns in crosses with pied and self-colour] Tidsskrift for det Norske Landbruk 67:415-430, 1960.|
|1949||Ibsen H.L. :|
|The inheritance of the allelomorphs and the modifiers of white spotting in cattle Proceedings 8th int. Congr. Genet. :601-602, 1949.|
|1925||Wriedt, C. :|
|Colorsided cattle: Some remarks concerning their occurrence and heredity. Journal of Heredity 16:51-56, 1925.|
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