●AIM:To identify disease-causative mutations in families with congenital cataract.●METHODS:Two Chinese families with autosomaldominant congenital cataract(ADCC)were recruited and underwent comprehensive eye examinat...●AIM:To identify disease-causative mutations in families with congenital cataract.●METHODS:Two Chinese families with autosomaldominant congenital cataract(ADCC)were recruited and underwent comprehensive eye examinations.Gene panel next-generation sequencing of common pathogenic genes of congenital cataract was performed in the proband of each family.Sanger sequencing was used to valid the candidate gene mutations and sequence the other family members for co-segregation analysis.The effect of sequence changes on protein structure and function was predicted through bioinformatics analysis.Major intrinsic protein(MIP)-wildtype and MIP-G29R plasmids were constructed and microinjected into zebrafish single-cell stage embryos.Zebrafish embryonic lens phenotypes were screened using confocal microscopy.●RESULTS:A novel heterozygous mutation(c.85G>A;p.G29R)in the MIP gene was identified in the proband of one family.A known heterozygous mutation(c.97C>T;p.R33C;rs864309693)in MIP was found in the proband of another family.In-silico prediction indicated that the novel mutation might affect the MIP protein function.Zebrafish embryonic lens was uniformly transparent in both wild-type PCS2+MIP and mutant PCS2+MIP.●CONCLUSION:Two missense mutations in the MIP gene in Chinese cataract families are identified,and one of which is novel.These findings expand the genetic spectrum of MIP mutations associated with cataracts.The functional studies suggest that the novel MIP mutation might not be a gain-of-function but a loss-of-function mutation.展开更多
Two rice cDNAs (rTip1 and rMip1) homologous to soybean nodulin 26 and Arabidopsis γ Tip, encoding major intrinsic protein (Mip) were isolated. The rTip1 was expressed in shoots and roots of rice seedlings and induc...Two rice cDNAs (rTip1 and rMip1) homologous to soybean nodulin 26 and Arabidopsis γ Tip, encoding major intrinsic protein (Mip) were isolated. The rTip1 was expressed in shoots and roots of rice seedlings and induced by water stress, salt stress and exogenous ABA. The rMip1 was expressed only in rice shoots. Although the mRNA level of rMip1 in the shoots was induced to a small extent by exogenous ABA, it did not show any increase under water or salt stress within the course of 12 h . On the basis of the different expression patterns and evolutionary distinctions of the above Mips, it is suggested that the possible Mip channel proteins encoded by the rTip1 and rMip1 genes may function in different transport systems.展开更多
基金Supported by the Science,Technology and Innovation Commission of Shenzhen Municipality(No.GJHZ20220913142618036,No.JCYJ20210324113610029).
文摘●AIM:To identify disease-causative mutations in families with congenital cataract.●METHODS:Two Chinese families with autosomaldominant congenital cataract(ADCC)were recruited and underwent comprehensive eye examinations.Gene panel next-generation sequencing of common pathogenic genes of congenital cataract was performed in the proband of each family.Sanger sequencing was used to valid the candidate gene mutations and sequence the other family members for co-segregation analysis.The effect of sequence changes on protein structure and function was predicted through bioinformatics analysis.Major intrinsic protein(MIP)-wildtype and MIP-G29R plasmids were constructed and microinjected into zebrafish single-cell stage embryos.Zebrafish embryonic lens phenotypes were screened using confocal microscopy.●RESULTS:A novel heterozygous mutation(c.85G>A;p.G29R)in the MIP gene was identified in the proband of one family.A known heterozygous mutation(c.97C>T;p.R33C;rs864309693)in MIP was found in the proband of another family.In-silico prediction indicated that the novel mutation might affect the MIP protein function.Zebrafish embryonic lens was uniformly transparent in both wild-type PCS2+MIP and mutant PCS2+MIP.●CONCLUSION:Two missense mutations in the MIP gene in Chinese cataract families are identified,and one of which is novel.These findings expand the genetic spectrum of MIP mutations associated with cataracts.The functional studies suggest that the novel MIP mutation might not be a gain-of-function but a loss-of-function mutation.
文摘Two rice cDNAs (rTip1 and rMip1) homologous to soybean nodulin 26 and Arabidopsis γ Tip, encoding major intrinsic protein (Mip) were isolated. The rTip1 was expressed in shoots and roots of rice seedlings and induced by water stress, salt stress and exogenous ABA. The rMip1 was expressed only in rice shoots. Although the mRNA level of rMip1 in the shoots was induced to a small extent by exogenous ABA, it did not show any increase under water or salt stress within the course of 12 h . On the basis of the different expression patterns and evolutionary distinctions of the above Mips, it is suggested that the possible Mip channel proteins encoded by the rTip1 and rMip1 genes may function in different transport systems.
