Ψ GSDMA - Orcinus orca

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

Statements

Type Excerpt DOI
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
Phenotypic "(…) mutations in GSDMA3 alone cause alopecia, a thicker epidermis and dermis, and absent hair follicle associated sebaceous glands." 10.1038/s41467-018-03667-1

Curator Observations

Sup Figure 13 & 17; Sup Table 4

Related Glosses

GL_ID Symbol Species Order Gene Loss Mechanism Loss Type Lineage Specific Citation
GL_Q6EWTH GSDMA Orcinus orca Artiodactyla Gene deletion Full No 10.1038/s41598-017-17782-4