OMIA 000213-89462 : Coat colour, white in Bubalus bubalis |
In other species: domestic cat , Bengal tiger , franciscana
Category: Pigmentation phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 600201 (gene) , 606202 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: unknown
Considered a defect: no
Year key variant first reported: 2020
Molecular basis: Liang et al. (2020) reported a "2,809-bp-long LINE-1 insertion in the ASIP (agouti signaling protein) gene is . . . [a] causative mutation for the white coat phenotype in swamp buffalo (Bubalus bubalis). This LINE-1 insertion (3' truncated and containing only 5' UTR) functions as a strong proximal promoter that leads to a 10-fold increase in the transcription of ASIP in white buffalo skin. The 165 bp of 5' UTR transcribed from the LINE-1 is spliced into the first coding exon of ASIP, resulting in a chimeric transcript. The increased expression of ASIP prevents melanocyte maturation, leading to the absence of pigment in white buffalo skin and hairs."
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| ASIP | agouti signaling protein | Bubalus bubalis | 14 | NC_059170.1 (20091365..19998890) | ASIP | Homologene, Ensembl, NCBI gene |
Variants
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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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1270 | White | ASIP | insertion, gross (>20) | Naturally occurring variant | UOA_WB_1 | 14 | "2,809-bp-long LINE-1 insertion in the ASIP (agouti signaling protein) gene" (Liang et al. (2020) | 2021 | 33212507 |
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 | Liang, D., Zhao, P., Si, J., Fang, L., Pairo-Castineira, E., Hu, X., Xu, Q., Hou, Y., Gong, Y., Liang, Z., Tian, B., Mao, H., Yindee, M., Faruque, M.O., Kongvongxay, S., Khamphoumee, S., Liu, G.E., Wu, D.D., Barker, J.S.F., Han, J., Zhang, Y. : | >
| Genomic analysis revealed a convergent evolution of LINE-1 in coat color: A case study in water buffaloes (Bubalus bubalis). Mol Biol Evol 38:1122-1136, 2021. Pubmed reference: 33212507. DOI: 10.1093/molbev/msaa279. | |
| 1962 | Rife, D.C. : | >
| Color and horn variations in water buffalo. The inheritance of coat color, eye color and shape of horns. J Hered 53:239-46, 1962. Pubmed reference: 13973831. | |
| 1959 | Rife, D.C., Buranamanus, P. : | >
| Inheritance of white coat color in the water buffalo of Thailand Journal of Heredity 50:269-270, 1959. DOI: 10.1093/oxfordjournals.jhered.a106923. |
Edit History
- Created by Frank Nicholas on 06 Sep 2005
- Changed by Frank Nicholas on 20 Aug 2020
- Changed by Frank Nicholas on 26 Nov 2020