OMIA:002009-37349 : Coat colour, satin in Mammuthus primigenius
In other species: rabbit
Categories: Pigmentation phene
Links to MONDO diseases: No links.
Mendelian trait/disorder: unknown
Considered a defect: no
Molecular basis: In analysing the genomic sequence of a woolly mammoth from Wrangel Island off the coast of norther Siberia, Rogers and Slatkin (2017) discovered "a hemizygous deletion . . . that would remove the entire gene sequence at the FOXQ1 locus . . . . The alternative haplotype carries a frameshift mutation [details not provided] that disrupts the FOXQ1 functional domain." Noting that "FOXQ1 knock-outs in mice are associated with the satin coat phenotype, which results in translucent fur but normal pigmentation due to abnormal development of the inner medulla of hairs", the authors concluded "If the phenotype in elephantids matches the phenotype exhibited in mice, this mammoth would have translucent hairs and a shiny satin coat, caused by two independently formed knock-out alleles at the same locus." Importantly, in the text (but not in the abstract) the authors caution that "there is no guarantee that . . . [disruption of this gene in a mammoth] would produce identical phenotypes [as those in mice] . . ." The above evidence, while extremely interesting and well worth recording here, does not constitute sufficient evidence for the FOXQ1 variants to be included in the OMIA list of likely causal variants.
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|FOXQ1||Mammuthus primigenius||-||no genomic information (-..-)||FOXQ1||Ensembl|
|2017||Rogers, R.L., Slatkin, M. :|
|Excess of genomic defects in a woolly mammoth on Wrangel island. PLoS Genet 13:e1006601, 2017. Pubmed reference: 28253255 . DOI: 10.1371/journal.pgen.1006601.|
- Created by Frank Nicholas on 09 Mar 2017
- Changed by Frank Nicholas on 09 Mar 2017
- Changed by Frank Nicholas on 14 Mar 2017