Ψ MC5R - Loxodonta africana

Reference Gene:
Job_ID:
Curator:
GlossID Species Gene Loss Mechanism Loss Type Lineage Specific Evidence Accession Nr.
GL_QV5MF2 Loxodonta africana LOF (frameshift, premature stop, ss) Full No Genomic XM_010587123.3

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 the proboscideans, two frameshift mutations in MC5R are shared by L. africana and M. primigenius (woolly mammoth), but do not appear in two different individuals of Elephas maximus (Asian elephant), Parvathy and Asha, for which we assembled complete coding sequences for MC5R based on SRA sequences." 10.1016/j.ympev.2017.12.010
Mutation Description "The first frameshift in L. africana and M. primigenius is a 16-bp frameshift deletion that is located at positions 93-111 of our 115-taxon alignment. (Note that positions 93-111 of the alignment span 19 bp but include a 3-bp insertion that is unique to Fukomys damarensis [Damaraland mole-rat] that was not tallied as part of the 16-bp frameshift.) The second shared frameshift mutation is a 1-bp deletion at position 591." 10.1016/j.ympev.2017.12.010
Phenotypic "Here, we show that MC5R has either been deleted from the genome or inactivated in multiple mammalian lineages that have lost their sebaceous glands or have degenerative sebaceous glands including fully aquatic cetaceans and West Indian manatee, pangolins, African elephant, and white rhinoceros." 10.1016/j.ympev.2017.12.010
Other "The presence of shared inactivating mutations in L. africana and M. primigenius, but not E. maximus, may be explained by incomplete lineage sorting or hybridization." 10.1016/j.ympev.2017.12.010