Ψ TYMP - Vicugna pacos
Reference Gene:
Job_ID:
Curator:
| GlossID | Species | Gene Loss Mechanism | Loss Type | Lineage Specific | Evidence | Accession Nr. |
|---|---|---|---|---|---|---|
| GL_SWQSTL | Vicugna pacos | LOF (frameshift, premature stop, ss) | Full | Yes | Single 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
Although no Suina species were included in the study, current genome assemblies for Suina species do not present the TYMP gene. This information in combination with the conservation of the 22-nucleotide deletion in all artiodactyls analyzed in this work strongly supports the loss of this gene in the artiodactyl ancestor.