OMIA:002701-51751 : Skin colour, EDNRB2-related in Python regius (ball python)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Considered a defect: unknown
Key variant known: yes
Year key variant first reported: 2023
Species-specific name: Yellowbelly series
Species-specific description: Dao et al. (2023) report that several color phenotypes in pet [ball pythons] animals are associated with putative loss-of-function variants in the gene encoding endothelin receptor EDNRB1: (1) frameshift variants in EDNRB1 are associated with conversion of the normal mottled color pattern to skin that is almost fully white, (2) missense variants affecting conserved sites of the EDNRB1 protein are associated with dorsal, longitudinal stripes, and (3) substitutions at EDNRB1 splice donors are associated with subtle changes in patterning compared to wildtype."
The G3 Journal issued an expression of concern [PMID: 37611078] after Dao et al. "alerted the Editorial Office to the use of erroneous gene names for endothelin receptor genes. The correct annotation for the gene associated with color phenotypes (accession OP589186) is EDNRB2, and the correct annotation for the gene not associated with color phenotypes (accession OQ412607) is EDNRB1." Information in OMIA has been changed accordingly to reflect that the reported variants are in the EDNRB2 gene [25/08/2023].
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|EDNRB2||Python regius||-||no genomic information (-..-)||EDNRB2||Ensembl|
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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|
|1562||Skin colour, EDNRB2-related||EDNRB2||yellowbelly||deletion, small (<=20)||Naturally occurring variant||c.1646del||OP589186.1; 1-bp deletion introduces a frameshift, which removes or alters three of the seven transmembrane helices||2023||37191439|
|1563||Skin colour, EDNRB2-related||EDNRB2||yellowbelly||deletion, small (<=20)||Naturally occurring variant||c.1747_1763del||OP589186.1; "17-bp deletion introduces a frameshift into the transcript, which removes or alters two of the seven transmembrane helices"||2023||37191439|
|1564||Skin colour, EDNRB2-related||EDNRB2||specter||missense||Naturally occurring variant||c.2601G>C||p.(R315P)||OP589186.1||2023||37191439|
|1567||Skin colour, EDNRB2-related||EDNRB2||asphalt||splicing||Naturally occurring variant||c.3118G>A||OP589186.1; G-to-A substitution in the sixth splice donor for the sixth intron||2023||37191439|
|1565||Skin colour, EDNRB2-related||EDNRB2||spark||missense||Naturally occurring variant||c.481G>C||p.(L152F)||OP589186.1||2023||37191439|
|1566||Skin colour, EDNRB2-related||EDNRB2||gravel||splicing||Naturally occurring variant||c.499G>A||OP589186.1; G-to-A substitution at the splice donor for the first intron||2023||37191439|
Cite this entry
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||[No authors listed] :|
|Expression of Concern: Stripes and loss of color in ball pythons (Python regius) are associated with variants affecting endothelin signaling. G3 (Bethesda) :, 2023. Pubmed reference: 37611078 . DOI: 10.1093/g3journal/jkad182.|
|[No authors listed] :|
|Retraction and replacement: Stripes and loss of color in ball pythons (Python regius) are associated with variants affecting endothelin signaling. G3 (Bethesda) 13:, 2023. Pubmed reference: 37776867 . DOI: 10.1093/g3journal/jkad211.|
|Dao, U.M., Lederer, I., Tabor, R.L., Shahid, B., Graves, C.W., Seidel, H.S. :|
|Stripes and loss of color in ball pythons (Python regius) are associated with variants affecting endothelin signaling. G3 (Bethesda) :, 2023. Pubmed reference: 37191439 . DOI: 10.1093/g3journal/jkad063.|
- Created by Imke Tammen2 on 18 May 2023
- Changed by Imke Tammen2 on 18 May 2023
- Changed by Imke Tammen2 on 19 May 2023
- Changed by Imke Tammen2 on 25 Aug 2023