OMIA:002807-8966 : Drug metabolism, poor, CYP2C19-related in Gyps coprotheres (cape vulture)

Categories: Homeostasis / metabolism phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 124020 (gene) , 609535 (trait)

Single-gene trait/disorder: yes

Disease-related: yes

Key variant known: yes

Year key variant first reported: 2023

Species-specific name: Diclofenac toxicity

Species-specific description: Oluwasegun Adawaren et al. (2023): "The unintended environmental exposure of vultures to diclofenac has resulted in the deaths of millions of old-world vultures on the Asian subcontinent. ... toxicity has been ... associated with a long half-life of elimination and zero order metabolism ... ."

Molecular basis: Oluwasegun Adawaren et al. (2023) "using whole genome sequencing and de-novo transcriptome alignment, the vulture CYP2C19 open reading frame was identified through Splign analysis. The result sequence analysis revealed the presence of a premature stop codon on open reading frame 7. ... The defect was also conserved across the eight non-related vultures tested. From these results, [the authors] conclude that the sensitivity of the old-world vultures to diclofenac is due to the non-expression of a viable CYP2C19 enzyme system."

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
CYP2C19 Gyps coprotheres - no genomic information (-..-) CYP2C19 Ensembl

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002807-8966: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

Reference

2023 Adawaren, E.O., Labuschagne, C., Abera, A., Naidoo, V. :
A premature stop codon in the CYP2C19 gene may explain the unexpected sensitivity of vultures to diclofenac toxicity. Toxicol Appl Pharmacol 482:116771, 2023. Pubmed reference: 38013149. DOI: 10.1016/j.taap.2023.116771.

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  • Created by Imke Tammen2 on 29 Nov 2023