Ψ ENAM - Caperea marginata

Reference Gene:
Job_ID:
Curator:
GlossID Species Gene Loss Mechanism Loss Type Lineage Specific Evidence Accession Nr.
GL_2V2Z1H Caperea marginata 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 "Stop codons occur in both of the baleen whale genera (Eubalaena, Megaptera) that lack frameshift mutations." 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 "Rudimentary teeth are best developed in mysticetes, but enamel is not deposited and the tooth buds are degraded and resorbed prior to parturition (reviewed in reference [15])." 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.