By natural field identification, the resistance of Chinese wild Vitis to Uncinula necator and its inheritance in F1 generation were studied with 35 clones of 9 Chinese wild Vitis species, 171 F1 individuals of 4 inter...By natural field identification, the resistance of Chinese wild Vitis to Uncinula necator and its inheritance in F1 generation were studied with 35 clones of 9 Chinese wild Vitis species, 171 F1 individuals of 4 inter-species cross between Chinese wild Vitis and Vitis vinifera cultivars, and 16 individuals of self-pollinated Chinese wild Vitis. Results showed that the phenotypes of resistance to Uncinula necator in Chinese wild Vitis and its F1 generation were rich and diverse. Based on the segregation of resisitance to Uncinula necator in the progenies resulted from both interspecific hybridization and self-pollination, of Chinese native wild Vitis species and clones were controlled by poly genes showing dominant independent heredity. Minor resistant genes were also exist in Chinese wild susceptible Vitis species and clones.展开更多
Background Retinitis pigmentosa(RP)is a genetically and clinically heterogeneous group of hereditary degenerative disorders affecting approximately one in every 4000 people worldwide.Abnormalities in the retina's ...Background Retinitis pigmentosa(RP)is a genetically and clinically heterogeneous group of hereditary degenerative disorders affecting approximately one in every 4000 people worldwide.Abnormalities in the retina's photoreceptors can cause night blindness or even complete vision loss.Retinitis Pigmentosa 1(RP1),also known as the oxygen-regulated protein-1,is a microtubule-associated protein(MAP)that organizes the outer segment of the photoreceptor.Besides,mutations in the RP1 gene are associated with dominant or recessive form of RP.This study aims to identify the potential pathogenic genes in Chinese RP patients and to elucidate the association relationship between the mutant gene and the phenotypes.Methods Multiple ophthalmic examinations,whole-exome sequencing,sanger sequencing,and in silico analysis were performed to evaluate the clinical features and pathogenic genes in a five-generation Chinese family diagnosed with RP.Results Our findings revealed a novel truncating mutation c.2015_2018del p.(Lys672Argfs∗9)in RP1 that may result in the translation of a protein with deleterious effects on photoreceptors.Therefore,resulting in autosomal dominant retinitis pigmentosa(ADRP).Conclusions This study broaden the range of genetic mutations associated with RP1 in ADRP and make a valuable contribution to the ongoing endeavors aimed at characterizing the molecular aspects of Chinese ADRP.Future studies would pay more attention in determining the characterization of the mutantations in RP1 gene and the relationship between genotype and phenotype in RP patients.展开更多
基金the National Nature Science Foundation of China ( No.39970524).
文摘By natural field identification, the resistance of Chinese wild Vitis to Uncinula necator and its inheritance in F1 generation were studied with 35 clones of 9 Chinese wild Vitis species, 171 F1 individuals of 4 inter-species cross between Chinese wild Vitis and Vitis vinifera cultivars, and 16 individuals of self-pollinated Chinese wild Vitis. Results showed that the phenotypes of resistance to Uncinula necator in Chinese wild Vitis and its F1 generation were rich and diverse. Based on the segregation of resisitance to Uncinula necator in the progenies resulted from both interspecific hybridization and self-pollination, of Chinese native wild Vitis species and clones were controlled by poly genes showing dominant independent heredity. Minor resistant genes were also exist in Chinese wild susceptible Vitis species and clones.
基金funded by the Project from the Science Technology Department of Zhejiang Province[No.LGC19H120002]the Natural Science Foundation of Zhejiang Province[No.LQ22C070004]National Natural Science Foundation of China[No.82271065 and No.82471154].
文摘Background Retinitis pigmentosa(RP)is a genetically and clinically heterogeneous group of hereditary degenerative disorders affecting approximately one in every 4000 people worldwide.Abnormalities in the retina's photoreceptors can cause night blindness or even complete vision loss.Retinitis Pigmentosa 1(RP1),also known as the oxygen-regulated protein-1,is a microtubule-associated protein(MAP)that organizes the outer segment of the photoreceptor.Besides,mutations in the RP1 gene are associated with dominant or recessive form of RP.This study aims to identify the potential pathogenic genes in Chinese RP patients and to elucidate the association relationship between the mutant gene and the phenotypes.Methods Multiple ophthalmic examinations,whole-exome sequencing,sanger sequencing,and in silico analysis were performed to evaluate the clinical features and pathogenic genes in a five-generation Chinese family diagnosed with RP.Results Our findings revealed a novel truncating mutation c.2015_2018del p.(Lys672Argfs∗9)in RP1 that may result in the translation of a protein with deleterious effects on photoreceptors.Therefore,resulting in autosomal dominant retinitis pigmentosa(ADRP).Conclusions This study broaden the range of genetic mutations associated with RP1 in ADRP and make a valuable contribution to the ongoing endeavors aimed at characterizing the molecular aspects of Chinese ADRP.Future studies would pay more attention in determining the characterization of the mutantations in RP1 gene and the relationship between genotype and phenotype in RP patients.
