Ψ DSG4 - Tursiops truncatus

Reference Gene:
Job_ID:
Curator:
GlossID Species Gene Loss Mechanism Loss Type Lineage Specific Evidence Accession Nr.
GL_WL1Y89 Tursiops truncatus Exon(s) deletion Full Yes Genomic

Statements

Type Excerpt DOI
Functional "Mutations in human and mouse DSG4 cause hypotrichosis (loss or reduction of hair) and hyperkeratosis (thicker stratum corneum)." 10.1038/s41467-018-03667-1
Methodology & Validation "For a gene to be classified as lost, we require that a lineage, which descends from an ancestor with an intact gene, exhibits several gene-inactivating mutations that most likely result in a non-functional protein. As gene-inactivating mutations, we consider frameshifting insertions and deletions, inframe stop codon mutations, and splice site-disrupting mutations. In addition, we consider the loss of exons or even entire genes, which could occur due to either large deletions in the genome or the accumulation of numerous mutations that destroy any sequence similarity." "For all previously unknown gene losses presented here, we further confirmed the loss by validating the gene-inactivating mutations with unassembled sequencing reads from the respective species." 10.1038/s41467-018-03667-1
Timing of Loss "(…) shared inactivating mutations show that the loss of DSG4, TGM5 and GSDMA already happened before the split of the toothed and baleen whale lineage. " 10.1038/s41467-018-03667-1

Curator Observations

Sup Figure 13 & 14; Sup Table 4