Ψ TYMP - Echinops telfairi

Reference Gene:
Job_ID:
Curator:
GlossID Species Gene Loss Mechanism Loss Type Lineage Specific Evidence Accession Nr.
GL_OFA6ZZ Echinops telfairi Gene deletion Full Yes Single individual SRA

Statements

Type Excerpt DOI
Mutation Description "While TYMP is completely deleted in tenrec, other lineages exhibit both exon deletions and numerous smaller inactivating mutations that are spread across the gene." 10.1093/nargab/lqz012
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