OMIA:000202-9823 : Coat colour, oculocutaneous albinism type I (OCA1), TYR-related in Sus scrofa
In other species: domestic cat , taurine cattle , dog , rabbit , water buffalo , ass , Japanese medaka , American mink , humpback whale , domestic ferret , domestic guinea pig , Tufted capuchin , dark-spotted frog , Japanese wrinkled frog , Rice frog , lion , Mongolian gerbil , red fox , hamadryas baboon , red deer , Japanese raccoon dog , Japanese ratsnake , , golden hamster
Categories: Pigmentation phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 203100 (trait) , 606952 (trait) , 606933 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: no
Key variant known: no
Cross-species summary: Congenital lack of pigment in most parts of the body. Due to a non-functional form of the enzyme tyrosinase. Also known as Oculocutaneous albinism (OCA), Acromelanism and as the Himalayan coat-colour pattern
Species-specific description: There are no reports of albinism occurring naturally in pigs. This entry has been created because "transgenic" albino pigs have been produced by knocking out the TYR gene, using CRISPR/Cas9-mediated gene-targeted pigs via somatic cell nuclear transfer (Zhou et al., 2015): Genetically-modifed organism; GMO
Molecular basis: Zhou et al. (2015) "applied Cas9/sgRNAs to effectively direct gene editing in porcine fetal fibroblasts and then mutant cell colonies were used as donor to generate homozygous gene-targeted pigs through single round of SCNT. As a result, . . [they] successfully obtained 15 tyrosinase (TYR) biallelic mutant pigs. . . . They were all homozygous and no off-target mutagenesis was detected by comprehensive analysis. TYR (-/-) pigs showed typical albinism".
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|TYR||tyrosinase||Sus scrofa||9||NC_010451.4 (22517047..22604290)||TYR||Homologene, Ensembl , NCBI gene|
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||Zhang, J., Khazalwa, E.M., Abkallo, H.M., Zhou, Y., Nie, X., Ruan, J., Zhao, C., Wang, J., Xu, J., Li, X., Zhao, S., Zuo, E., Steinaa, L., Xie, S. :|
|The advancements, challenges, and future implications of the CRISPR/Cas9 system in swine research. J Genet Genomics 48:347-360, 2021. Pubmed reference: 34144928 . DOI: 10.1016/j.jgg.2021.03.015.|
|2015||Zhou, X., Xin, J., Fan, N., Zou, Q., Huang, J., Ouyang, Z., Zhao, Y., Zhao, B., Liu, Z., Lai, S., Yi, X., Guo, L., Esteban, M.A., Zeng, Y., Yang, H., Lai, L. :|
|Generation of CRISPR/Cas9-mediated gene-targeted pigs via somatic cell nuclear transfer. Cell Mol Life Sci 72:1175-84, 2015. Pubmed reference: 25274063 . DOI: 10.1007/s00018-014-1744-7.|
- Created by Frank Nicholas on 24 Apr 2015
- Changed by Frank Nicholas on 24 Apr 2015
- Changed by Frank Nicholas on 08 Aug 2017
- Changed by Imke Tammen2 on 25 Jun 2021