AIM:To investigate the variation of IGSF3 gene in three families with congenital absence of lacrimal puncta and canaliculi,and to lay a foundation for further research on the pathogenic gene of congenital lacrimal duc...AIM:To investigate the variation of IGSF3 gene in three families with congenital absence of lacrimal puncta and canaliculi,and to lay a foundation for further research on the pathogenic gene of congenital lacrimal duct agenesis.METHODS:The members of the three families were recruited.The ophthalmologic examinations in details,including slit-lamp biomicroscope,intraocular pressure and fundus examination,etc.were carried out.All patients were checked with paracentesis of puncta membrane and lacrimal duct probing,as well as the computed tomographydacryocystography(CT-DCG).Peripheral blood of 14 participants(3 normal)from three families were collected,4 mL each,for genomic DNA extraction,and 11 exon fragments of IGSF3 gene were amplified and sequenced by polymerase chain reaction(PCR)to determine whether there were IGSF3 genetic variation.RESULTS:A total of 14 members from three families were screened for 4 synonymous variants:c.930 C>T(p.Pro366=),c.1359 T>C(p.Ser709=),c.1797 G>A(p.Ser855=),c.1539 G>A(p.Ser769=),and 6 missense variants:c.l507 G>A(p.Gly759 Ser),c.1783 T>C(p.Trp851 Arg),c.1952 G>T(p.Ser 907 lle),c.3120 C>G(p.Asp1040 Glu),c.3123 C>G(p.Asp1041 Glu),c.3139_3140 insGAC(p.Asp1046_Pro1047 insAsp),and the latter three were only found in two patients with absence of lacrimal puncta and canaliculi combined with congenital osseous nasolacrimal canal obstruction from the first family.CONCLUSION:The same IGSF3 gene mutation c.31393140 insGAC is found in the patients with congenital absence of lacrimal puncta and canaliculi combine with osseous nasolacrimal canal obstruction.展开更多
Surface ornamentations of the cell walls of 24 desmid species varieties and forms belonging to 7 genera were studied under a scanning electron microscope (SEM). Among these desmids, 1 species and 1 variety are new to ...Surface ornamentations of the cell walls of 24 desmid species varieties and forms belonging to 7 genera were studied under a scanning electron microscope (SEM). Among these desmids, 1 species and 1 variety are new to science, 13 species, varieties and forms are recorded in China for the first time. These desmids are subdivided into homogeneous and heterogeneous types based on the characteristic ornamentations on their cell walls. A unique ornamentation pattern, the centre of each scrobiculation with a small punctum regularly arranged on the cell wall, and very fine puncta scattered on the cell wall can only be revealed under high SEM magnification.展开更多
Reticulophagy is a type of selective autophagy in which protein aggregate-containing and/or damaged endoplasmic reticulum(ER)fragments are engulfed for lysosomal degradation, which is important for ER homeostasis. Sev...Reticulophagy is a type of selective autophagy in which protein aggregate-containing and/or damaged endoplasmic reticulum(ER)fragments are engulfed for lysosomal degradation, which is important for ER homeostasis. Several chemical drugs and mutant proteins that promote protein aggregate formation within the ER lumen can efficiently induce reticulophagy in mammalian cells.However, the exact mechanism and cellular localization of reticulophagy remain unclear. In this report, we took advantage of the self-oligomerization property of p62/SQSTM1, an adaptor for selective autophagy, and developed a novel reticulophagy system based on an ER-targeted p62 mutant to investigate the process of reticulophagy in living cells. LC3 conversion analysis via western blot suggested that p62 mutant aggregate-induced ER stress triggered a cellular autophagic response. Confocal imaging showed that in cells with moderate aggregation conditions, the aggregates of ER-targeted p62 mutants were efficiently sequestered by autophagosomes, which was characterized by colocalization with the autophagosome precursor marker ATG16L1, the omegasome marker DFCP1, and the late autophagosomal marker LC3/GATE-16. Moreover, time-lapse imaging data demonstrated that the LC3-or DFCP1-positive protein aggregates are tightly associated with the reticular structures of the ER, thereby suggesting that reticulophagy occurs at the ER and that omegasomes may be involved in this process.展开更多
基金Supported by High-Level Talents Training Foundation of the Armed Police Force(No.GCCRC-02)。
文摘AIM:To investigate the variation of IGSF3 gene in three families with congenital absence of lacrimal puncta and canaliculi,and to lay a foundation for further research on the pathogenic gene of congenital lacrimal duct agenesis.METHODS:The members of the three families were recruited.The ophthalmologic examinations in details,including slit-lamp biomicroscope,intraocular pressure and fundus examination,etc.were carried out.All patients were checked with paracentesis of puncta membrane and lacrimal duct probing,as well as the computed tomographydacryocystography(CT-DCG).Peripheral blood of 14 participants(3 normal)from three families were collected,4 mL each,for genomic DNA extraction,and 11 exon fragments of IGSF3 gene were amplified and sequenced by polymerase chain reaction(PCR)to determine whether there were IGSF3 genetic variation.RESULTS:A total of 14 members from three families were screened for 4 synonymous variants:c.930 C>T(p.Pro366=),c.1359 T>C(p.Ser709=),c.1797 G>A(p.Ser855=),c.1539 G>A(p.Ser769=),and 6 missense variants:c.l507 G>A(p.Gly759 Ser),c.1783 T>C(p.Trp851 Arg),c.1952 G>T(p.Ser 907 lle),c.3120 C>G(p.Asp1040 Glu),c.3123 C>G(p.Asp1041 Glu),c.3139_3140 insGAC(p.Asp1046_Pro1047 insAsp),and the latter three were only found in two patients with absence of lacrimal puncta and canaliculi combined with congenital osseous nasolacrimal canal obstruction from the first family.CONCLUSION:The same IGSF3 gene mutation c.31393140 insGAC is found in the patients with congenital absence of lacrimal puncta and canaliculi combine with osseous nasolacrimal canal obstruction.
文摘Surface ornamentations of the cell walls of 24 desmid species varieties and forms belonging to 7 genera were studied under a scanning electron microscope (SEM). Among these desmids, 1 species and 1 variety are new to science, 13 species, varieties and forms are recorded in China for the first time. These desmids are subdivided into homogeneous and heterogeneous types based on the characteristic ornamentations on their cell walls. A unique ornamentation pattern, the centre of each scrobiculation with a small punctum regularly arranged on the cell wall, and very fine puncta scattered on the cell wall can only be revealed under high SEM magnification.
基金supported by the Major Research Plan of the National Natural Science Foundation of China (91442201)the National Science Fund for Distinguished Young Scholars (81625012)the Science Fund for Creative Research Groups of the National Natural Science Foundation of China (61421064)
文摘Reticulophagy is a type of selective autophagy in which protein aggregate-containing and/or damaged endoplasmic reticulum(ER)fragments are engulfed for lysosomal degradation, which is important for ER homeostasis. Several chemical drugs and mutant proteins that promote protein aggregate formation within the ER lumen can efficiently induce reticulophagy in mammalian cells.However, the exact mechanism and cellular localization of reticulophagy remain unclear. In this report, we took advantage of the self-oligomerization property of p62/SQSTM1, an adaptor for selective autophagy, and developed a novel reticulophagy system based on an ER-targeted p62 mutant to investigate the process of reticulophagy in living cells. LC3 conversion analysis via western blot suggested that p62 mutant aggregate-induced ER stress triggered a cellular autophagic response. Confocal imaging showed that in cells with moderate aggregation conditions, the aggregates of ER-targeted p62 mutants were efficiently sequestered by autophagosomes, which was characterized by colocalization with the autophagosome precursor marker ATG16L1, the omegasome marker DFCP1, and the late autophagosomal marker LC3/GATE-16. Moreover, time-lapse imaging data demonstrated that the LC3-or DFCP1-positive protein aggregates are tightly associated with the reticular structures of the ER, thereby suggesting that reticulophagy occurs at the ER and that omegasomes may be involved in this process.
