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1.
Anim Genet ; 51(4): 584-589, 2020 Aug.
Article in English | MEDLINE | ID: mdl-32463158

ABSTRACT

Mutations in lipase H (LIPH) and lysophosphatidic acid receptor 6 (LPAR6), which are essential for the lysophosphatidic acid (LPA) signalling pathway, are associated with hypotrichosis and wooly hair in humans. Mutations in LPAR6 and keratin 71 (KRT71), result in unusual fur growth and hair structure in several cat breeds (Cornish Rex, Devon Rex and Selkirk Rex). Here, we performed target sequencing of the LIPH, LPAR6 and KRT71 genes in six cat breeds with specific hair-growth phenotypes. A LIPH genetic variant (LIPH:c.478_483del; LIPH:p.Ser160_Gly161del) was found in Ural Rex cats with curly coats from Russia, but was absent in all other cat breeds tested. In silico three-dimensional analysis of the LIPH mutant protein revealed a contraction of the α3-helix structure in the enzyme phospholipid binding site that may affect its activity.


Subject(s)
Cats/genetics , Hair/anatomy & histology , Keratins, Hair-Specific/genetics , Lipase/genetics , Mutation , Receptors, Lysophosphatidic Acid/genetics , Animals , Keratins, Hair-Specific/metabolism , Lipase/metabolism , Mutant Proteins/genetics , Mutant Proteins/metabolism , Receptors, Lysophosphatidic Acid/metabolism , Species Specificity
2.
Mol Phylogenet Evol ; 107: 232-238, 2017 02.
Article in English | MEDLINE | ID: mdl-27845203

ABSTRACT

Turritopsis dohrnii (Cnidaria, Hydrozoa, Hydroidolina, Anthoathecata) is the only known metazoan that is capable of reversing its life cycle via morph rejuvenation from the adult medusa stage to the juvenile polyp stage. Here, we present a complete mitochondrial (mt) genome sequence of T. dohrnii, which harbors genes for 13 proteins, two transfer RNAs, and two ribosomal RNAs. The T. dohrnii mt genome is characterized by typical features of species in the Hydroidolina subclass, such as a high A+T content (71.5%), reversed transcriptional orientation for the large rRNA subunit gene, and paucity of CGN codons. An incomplete complementary duplicate of the cox1 gene was found at the 5' end of the T. dohrnii mt chromosome, as were variable repeat regions flanking the chromosome. We identified species-specific variations (nad5, nad6, cob, and cox1 genes) and putative selective constraints (atp8, nad1, nad2, and nad5 genes) in the mt genes of T. dohrnii, and predicted alterations in tertiary structures of respiratory chain proteins (NADH4, NADH5, and COX1 proteins) of T. dohrnii. Based on comparative analyses of available hydrozoan mt genomes, we also determined the taxonomic relationships of T. dohrnii, recovering Filifera IV as a paraphyletic taxon, and assessed intraspecific diversity of various Hydrozoa species.


Subject(s)
Biological Evolution , Genome, Mitochondrial , Life Cycle Stages/genetics , Scyphozoa/growth & development , Scyphozoa/genetics , Animals , Base Sequence , DNA, Mitochondrial/genetics , Genes, Mitochondrial , Genetic Variation , Nucleotides/genetics , Open Reading Frames/genetics , Phylogeny , RNA, Ribosomal/genetics
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