Ψ ENAM - Orycteropus afer

Reference Gene:
Job_ID:
Curator:
GlossID Species Gene Loss Mechanism Loss Type Lineage Specific Evidence Accession Nr.
GL_4GOBO4 Orycteropus afer LOF (frameshift, premature stop, ss) Full No PCR & Sanger Sequencing Single XM_007942773.1

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 "Teeth in the extant aardvark, Orycteropus afer, lack both enamel and a central pulp cavity and are composed of, aprox1500 thin, hexagonal tubes of dentin that are bound together by cementum [22]." 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.