OMIA:002884-94885 : Skin colour, PMEL-related in Pantherophis guttatus (corn snake) |
In other species: Nile tilapia
Categories: Pigmentation phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 155550 (gene)
Single-gene trait/disorder: yes
Mode of inheritance: Autosomal recessive
Disease-related: unknown
Key variant known: yes
Year key variant first reported: 2024
Species-specific symbol: tz
Molecular basis: Tzika et al. (2024) investigated the "Terrazzo morph, whose skin pattern is characterized by stripes rather than blotches. Using genome mapping, [the authors] discover a disruptive [splice-site] mutation in the coding region of the Premelanosome protein (PMEL) gene [omia.variant:1736]. [Their] transcriptomic analyses reveal that PMEL expression is significantly downregulated in Terrazzo embryonic tissues. [The authors] produce corn snake PMEL knockouts, which present a comparable colouration phenotype to Terrazzo and the subcellular structure of their melanosomes and xanthosomes is also similarly impacted."
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| PMEL | premelanosome protein | Pantherophis guttatus | NW_026844023.1 (84569024..84589289) | PMEL | Ensembl, NCBI gene |
Variants
By default, variants are sorted chronologically by year of publication, to provide a historical perspective.
Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending
order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column
headers.
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 | Variant Type | Variant Effect | Source of Genetic Variant | Pathogenicity Classification* | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1736 | Skin colour, Terrazzo | PMEL | tz | haplotype | splicing | Naturally occurring variant | Not currently evaluated | UNIGE_PanGut_3.0 | NW_023010713:g.[13272041A>T;13272043G>C] | XM_034412587.1:c.[1594C>G;1594+2T>A] | "a multi-nucleotide polymorphism, from ACG to TCC (Super-scaffold 85; position 13,272,041) falls at the end of exon 8 (one nucleotide – A to T) and on the donor site of intron 8 of the Premelanosome Protein (PMEL) gene (two nucleotides – CG to CC)" | 2024 | 39227572 |
* Variant pathogenicity for single gene diseases as evaluated by an expert panel of the International Society of Animal Genetics (ISAG) Animal Genetic Testing Standardization Standing Committee
Contact us
If you notice anything missing or in need of change, please contact us at: [email protected].
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:002884-94885: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2024 | Tzika, A.C., Ullate-Agote, A., Helleboid, P.Y., Kummrow, M. : |
| PMEL is involved in snake colour pattern transition from blotches to stripes. Nat Commun 15:7655, 2024. Pubmed reference: 39227572. DOI: 10.1038/s41467-024-51927-0. |
Edit History
- Created by Imke Tammen2 on 05 Sep 2024
- Changed by Imke Tammen2 on 05 Sep 2024