Ψ ENAM - Choloepus hoffmanni

Reference Gene:
Job_ID:
Curator:
GlossID Species Gene Loss Mechanism Loss Type Lineage Specific Evidence Accession Nr.
GL_OKTVLH Choloepus hoffmanni LOF (frameshift, premature stop, ss) Full No PCR & Sanger Sequencing Single

Statements

Type Excerpt DOI
Functional "Enamelin is the largest EMP in mammals (1104 aa in pig) and is secreted along the mineralization front of developing enamel [13] where it may play a role in crystal elongation [8]." 10.1371/journal.pgen.1000634
Mutation Description "Frameshifts are lacking in all taxa having teeth with enamel whereas 17 of 20 taxa lacking teeth or enamel have at least one frameshift in ENAM (Figure 1). " 10.1371/journal.pgen.1000634
Methodology & Validation "Exon 10 [55] is the longest exon in ENAM (2838 basepairs in Sus) and codes for >80% of the total length of the secreted protein after removal of the signal peptide.PCR was used to amplify ,95% of exon 10 in four overlapping segments. " 10.1371/journal.pgen.1000634
Phenotypic "Most placental mammals have teeth with enamel,but there are also edentulous (toothless) mammals (pangolins, baleen whales, anteaters) and mammals with enamelless teeth (sloths, armadillos, pygmy and dwarf sperm whales, aardvark). Among edentulous mammals, there is evidence for aborted toothbud development in mysticetes [15], pangolins [16,17], and anteaters[17]." 10.1371/journal.pgen.1000634

Curator Observations

See Figure 2 for sequence alignment and identification of LoF mutations and see supplmentary Figure 5 for sequencing profiles.