| Functional |
"[In mice,] mutations in K1 and K10 were shown to be associated with bullous congenital ichthyosiform erythroderma (BCIE)." |
10.1186/s12983-017-0225-x |
| Mutation Description |
"Nine keratin subfamilies were completely absent in cetaceans when compared to its terrestrial relative of artiodactylans, such as six type I genes (K10, K25, K27, K28, K33A, K33B) and three type II genes (K1, K73, K77)." |
10.1186/s12983-017-0225-x |
| Methodology & Validation |
"We first identified α-keratin gene repertoires in the cow (Bos taurus) (coverage 7×,Btau_4.6.1) [...] taking all the known α-keratin gene sequences of human as queries using BLASTN and TBLASTN algorithm. [...] The putative α-keratin genes in the cow were then taken as queries to explore the α-keratin multigene family in the genome of 11 marine mammals, including [...] bowhead whale (Balaena mysticetus, coverage 150×, http://www.bowheadwhale.org/downloads/)." |
10.1186/s12983-017-0225-x |
| Phenotypic |
"Our results show an apparent reduction in the α-keratin gene repertoire and increased rate of pseudogenization in cetaceans when compared to terrestrial counterparts, which may be associated with their hairless phenotype." |
10.1186/s12983-017-0225-x |