| Mutation Description |
"In summary, we were able to deduce the presence of multiple and shared disruptive mutations (Figure 1 and Figure S2). These included a stop codon in exon 1 present in all analysed Cetacea with the exception of P. catodon (exon 1 was not found in the current assembly), an absent starting codon and frameshift deletions in exon 3 in Odontoceti (toothed whales), and a disruptive intron 2/exon 3 boundary mutation in Mysticeti (baleen whales)." |
10.3390/genes10020121 |
| Timing of Loss |
"Taken together, our results strongly suggest that melatonin production and signalling is impaired in Cetacea (Figure 6). Despite the lower number of disrupting mutations found in Asmt, we still find indications of pseudogenisation in the analysed species with the exception of B. mysticetus, due to poor genome coverage. Furthermore, we were able to infer that ancestral inactivating mutations (shared between toothed and toothless whales), occurred in Mtnr1b and Aanat ORFs." |
10.3390/genes10020121 |
| Phenotypic |
"Yet, a paradoxical observation emerging from our findings relates to the reported presence of
circulating melatonin in the bottlenose dolphin [16]. Without a functional AANAT or specific receptors, it seems unlikely that the reported melatonin levels in the bottlenose dolphin are endogenously and rhythmically produced by the canonical cascade and/or act on MTNR-dependent pathways. " |
10.3390/genes10020121 |