OMIA:002130-94885 : Oculocutaneous albinism, OCA2-related in Pantherophis guttatus (corn snake) |
In other species: Mexican tetra , guppy , Rhesus monkey , dog , pig
Categories: Pigmentation phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 203200 (trait) , 611409 (gene)
Links to relevant human diseases in MONDO:
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Disease-related: unknown
Key variant known: yes
Year key variant first reported: 2015
Cross-species summary: Tyrosinase-positive oculocutaneous albinism (OCA, type II) is an autosomal recessive disorder in which the biosynthesis of melanin pigment is reduced in skin, hair, and eyes. Renamed from 'Coat colour, oculocutaneous albinism, OCA2-related' [07/09/2024]
Species-specific name: Amelanism
Inheritance: Bechtel & Bechtel (1962) report that albinism in the corn snake is likely to be a recessive trait. Bechtel & Bechtel (1989) report that captive breeding of corn snakes has identified that the two colour mutations 'albinism' and 'anerythrism' are inherited independently and are both autosomal recessive.
Molecular basis: Saenko et al. (2015) identified 'that the insertion of an LTR-retrotransposon in its 11th intron results in a considerable truncation of the p protein and likely constitutes the causal mutation of amelanism in corn snakes.'
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| OCA2 | Pantherophis guttatus | NW_026844017.1 (39107794..38881818) | OCA2 | 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 | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 865 | Coat colour, oculocutaneous albinism, OCA2-related | OCA2 | insertion, gross (>20) | Naturally occurring variant | LTR retrotransposon in the 11th intron | 2015 | 26597053 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002130-94885: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
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.
| 2023 | Guo, L., Kruglyak, L. : |
| Genetics and biology of coloration in reptiles: The curious case of the Lemon Frost geckos. Physiol Genomics 55:479-486, 2023. Pubmed reference: 37642275. DOI: 10.1152/physiolgenomics.00015.2023. | |
| 2015 | Saenko, S.V., Lamichhaney, S., Martinez Barrio, A., Rafati, N., Andersson, L., Milinkovitch, M.C. : |
| Amelanism in the corn snake is associated with the insertion of an LTR-retrotransposon in the OCA2 gene. Sci Rep 5:17118, 2015. Pubmed reference: 26597053. DOI: 10.1038/srep17118. | |
| 2014 | Ullate-Agote, A., Milinkovitch, M.C., Tzika, A.C. : |
| The genome sequence of the corn snake (Pantherophis guttatus), a valuable resource for EvoDevo studies in squamates. Int J Dev Biol 58:881-8, 2014. Pubmed reference: 26154328. DOI: 10.1387/ijdb.150060at. | |
| 1989 | Bechtel, H.B., Bechtel, E. : |
| Color mutations in the corn snake (Elaphe guttata guttata): Review and additional breeding data Journal of Heredity 80:272–276, 1989. DOI: https://doi.org/10.1093/oxfordjournals.jhered.a110853. | |
| 1962 | Bechtel, H.B., Bechtel, E. : |
| Heredity of albinism in the corn snake, Elaphe guttata guttata, demonstrated in captive breedings. Copeia 1962:436-437, 1962. DOI: 10.2307/1440917. |
Edit History
- Created by Imke Tammen2 on 30 Aug 2017
- Changed by Imke Tammen2 on 30 Aug 2017
- Changed by Frank Nicholas on 12 Sep 2017
- Changed by Frank Nicholas on 11 Oct 2017
- Changed by Imke Tammen2 on 31 Aug 2023