Evolution and Transcriptional Modulation ofLipoxygenaseGenes Under Heat, Drought, and Combined Stress inBrassica rapa
PLANT MOLECULAR BIOLOGY REPORTER
Authors: Rai, Archana N.; Mandliya, Trapti; Kulkarni, Pranav; Rao, Mahesh; Suprasanna, P.
Abstract
In plants,Lipoxygenase (LOX) genes play crucial roles in tolerance to abiotic as well as biotic stress. Although they have been characterized in various plants, little is known about the evolution and role ofLOXunder high temperature, drought and their combination in Brassica. In this study, we identified 13 divergentLOXgenes which are distributed among six linkage groups (LG) ofBrassica rapa. These genes are unevenly distributed among all the three sub-genomes as moderately gene fractionized (MF1), most gene fractionized (MF2), and least gene fractionized (LF) with the differential loss and with the highest loss of genes on the LF. The substitution analysis (Ka/Ks) exhibited a signature of purifying selection of paralogous genes. Protein sequence analysis showed the presence of two canonical iron-binding signature regions along with PLAT/LH2 domain in all the identified LOX proteins indicating greater functional conservation.LOXexpression pattern differed significantly under conditions of heat, drought and their combination which was also assessed by lipid peroxidation (MDA) assay and relative water content (RWC). Under heat stress,BraA.LOX5.awas found to be over expressed (6.16-fold) whereas under drought and combined stress,BraA.LOX2.awas identified as the major transcript with 15.76-fold over expression under drought and 18.67-fold under combined stress. These genes showed a significant positive correlation with biochemical stress indicator MDA. The 5 ' upstream sequences ofLOXgenes were found to be highly divergent and showed the presence of different regulatory elements. This study provides a basis for conducting further characterization of stress-specific LOX protein and its involvement in stress-related signalling pathway.
Further audiovestibular characterization of DFNB77, caused by deleterious variants in LOXHD1, and investigation into the involvement of Fuchs corneal dystrophy
CLINICAL GENETICS
Authors: Wesdorp, M.; Schreur, V.; Beynon, A. J.; Oostrik, J.; van de Kamp, J. M.; Elting, M. W.; van den Boogaard, M-J H.; Feenstra, I.; Admiraal, R. J. C.; Kunst, H. P. M.; Hoyng, C. B.; Kremer, H.; Yntema, H. G.; Pennings, R. J. E.; Schraders, M.
Abstract
This study focuses on further characterization of the audiovestibular phenotype and on genotype-phenotype correlations of DFNB77, an autosomal recessive type of hearing impairment (HI). DFNB77 is associated with disease-causing variants in LOXHD1, and is genetically and phenotypically highly heterogeneous. Heterozygous deleterious missense variants in LOXHD1 have been associated with late-onset Fuchs corneal dystrophy (FCD). However, up to now screening for FCD of heterozygous carriers in DFNB77 families has not been reported. This study describes the genotype and audiovestibular phenotype of 9 families with DFNB77. In addition, carriers within the families were screened for FCD. Fifteen pathogenic missense and truncating variants were identified, of which 12 were novel. The hearing phenotype showed high inter- and intrafamilial variation in severity and progression. There was no evidence for involvement of the vestibular system. None of the carriers showed (pre-clinical) symptoms of FCD. Our findings expand the genotypic and phenotypic spectrum of DFNB77, but a clear correlation between the type or location of the variant and the severity or progression of HI could not be established. We hypothesize that environmental factors or genetic modifiers are responsible for phenotypic differences. No association was found between heterozygous LOXHD1 variants and the occurrence of FCD in carriers.