OMIA:002701-51751 : Skin colour, EDNRB2-related in Python regius (ball python)

Categories: Pigmentation phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 131244 (gene) , 277580 (trait)

Single-gene trait/disorder: yes

Disease-related: 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].

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
EDNRB2 Python regius - no genomic information (-..-) EDNRB2 Ensembl

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
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

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002701-51751: 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 [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) 13:jkad182, 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:jkad211, 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) 13:jkad063, 2023. Pubmed reference: 37191439. DOI: 10.1093/g3journal/jkad063.

Edit History


  • 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