Ψ MC5R - Pongo abelii

Reference Gene:
Job_ID:
Curator:
GlossID Species Gene Loss Mechanism Loss Type Lineage Specific Evidence Accession Nr.
GL_X1MD1D Pongo abelii LOF (frameshift, premature stop, ss) Full No Multiple individual SRA XM_003780281.4

Statements

Type Excerpt DOI
Mutation Description "In addition to taxa with deleted or mostly deleted copies of MC5R, we also discovered inactivating mutations in Loxodonta africana, Mammuthus primigenius (woolly mammoth), Ceratotherium simum (white rhinoceros), Galeopterus variegatus (Sunda colugo), Nomascus leucogenys (northern white-cheeked gibbon), and Pongo abelii (Sumatran orangutan) (Fig. 4)." 10.1016/j.ympev.2017.12.010
Mutation Description "Among primates, P. abelii has a premature stop codon at positions 400-402." 10.1016/j.ympev.2017.12.010
Other "This premature stop codon is confirmed by eight traces (Sanger sequencing) for an individual of P. abelii in the Trace Archives section of the Sequence Read Archive (SRA), but is not present in Illumina reads for an individual of P. abelii (SRX1054880) in the SRA. A second primate, N. leucogenys, has a 1-bp frameshift mutation at position 345 (SRX590181, SRX590192)." 10.1016/j.ympev.2017.12.010

Curator Observations

Conflicting information regarding the validation of the observed mutations for P. abelii, hints that MC5R may be a polymorphic pseudogene in this species.