OMIA:002758-51751 : Skin colour, dilution, MLPH-related in Python regius (ball python)
Categories: Pigmentation phene
Links to MONDO diseases:
Mendelian trait/disorder: yes
Mode of inheritance: Recessive
Considered a defect: no
Key variant known: yes
Year key variant first reported: 2023
Species-specific name: Ghost; Hypo; Orange Ghost
Inheritance: Lederer et al. (2023): "Ghost phenotype is recessive"
Molecular basis: Lederer et al. (2023) "... amplified and sequenced the coding regions and adjacent splice sites of [the functional candidate gene] MLPH in one animal described by its owner as Ghost and one animal having normal coloration (henceforth ‘wildtype’). ... We observed that the Ghost animal was homozygous for a 5-bp deletion in the eighth coding region of MLPH (OR035642:c.4919_4923del ... ). ... To test whether the 5-bp deletion in MLPH was associated with the Ghost phenotype in a broader population of animals, we genotyped ... 50 animals described by their owners as Ghost and 60 animals as described as Non-Ghost. ... We observed that all animals described as Ghost were homozygous for the 5-bp deletion ... . Non-Ghost animals, by contrast, did not carry the deletion (57 animals) or were heterozygous for it (three animals) .... These data show that homozygosity for the 5-bp deletion in MLPH is perfectly associated with the Ghost phenotype."
Have human generated variants been created, e.g. through genetic engineering and gene editing
Clinical features: Lederer et al. (2023): "Ghost animals have lighter brown-to-black coloration compared to wildtype animals, and their shed skin is largely devoid of pigment ... . Ghost animals are healthy and show no abnormalities outside pigmentation."
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|MLPH||melanophilin||Python regius||-||no genomic information (-..-)||MLPH||Ensembl|
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
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|
|1617||Skin colour, Ghost||MLPH||delins, small (<=20)||Naturally occurring variant||c.4919_4923del||p.(Q350Ilefs*15)||OR035642||2023||37637270|
Cite this entry
|2023||Lederer, I., Shahid, B., Dao, U., Brogdon, A., Byrtus, H., Delva, M., Deva, O., Hatfield, P., Hertz, M., Justice, J., Mavor, S., Pilbeam, E., Rice, Z., Simpson, A., Temar, H., Wynn, R., Xhangolli, J., Graves, C., Seidel, H. :|
|A frameshift variant in the melanophilin gene is associated with loss of pigment from shed skin in ball pythons (Python regius). MicroPubl Biol 2023, 2023. Pubmed reference: 37637270. DOI: 10.17912/micropub.biology.000896.|
- Created by Imke Tammen2 on 29 Aug 2023