| Functional |
"TGM5 encodes a transglutaminase expressed in the stratum spinosum and stratum granulosum, playing a role in the terminal differentiation of keratinocytes by cross linking structural corneocyte proteins such as loricrin and involucrin" |
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 |
| Phenotypic |
"Loss of function mutations in human TGM5 are associated with peeling skin syndrome, which involves shedding of the outer layers of the epidermis" |
10.1038/s41467-018-03667-1 |