Ψ TYMP - Mustela putorius furo
Reference Gene:
Job_ID:
Curator:
| GlossID | Species | Gene Loss Mechanism | Loss Type | Lineage Specific | Evidence | Accession Nr. |
|---|---|---|---|---|---|---|
| GL_KBBNHK | Mustela putorius furo | LOF (frameshift, premature stop, ss) | Full | Yes | Multiple individual SRA |
Statements
| Type | Excerpt | DOI |
|---|---|---|
| Timing of Loss | "The presence of shared inactivating mutations in independently sequenced and assembled genomes not only rules out sequencing or assembly errors, but also indicates that these mutations arose before the split of these species." | 10.1093/nargab/lqz012 |
| Phenotypic | "Mutations in human TYMP are associated with mitochondrial neurogastrointestinal encephalopathy (MNGIE) (62–64), a disease characterized by mitochondrial DNA alterations leading to mitochondrial dysfunction. MNGIE involves a variety of severe symptoms affecting the nervous and muscular system." | 10.1093/nargab/lqz012 |
| Other | "We found that TYMP is lost in six independent lineages,comprising 21 mammals in our dataset (Figure 3 and SupplementaryFigure S1)." | 10.1093/nargab/lqz012 |
Curator Observations
A conserved premature stop codon in exon 4 is observed in all carnivora species analyzed in this work, a strong indication that the loss of this gene occurred in the Carnivora ancestor.