A novel pathogenic deletion in ISPD causes Walker-Warburg syndrome in a Chinese family

Shi Yuting,Fu Yimei,Tao Zhouteng,Yong Wenjing,Peng Huirong,Jian Wenyang,Chen Gang,Guo Manhui,Zhao Yanhua,Yao Ruojin,Guo Dewei 한국유전학회 2023 Genes & Genomics Vol.45 No.3

Background Walker-Warburg syndrome (WWS) is a genetically heterogeneous disease that often presents with complex brain and eye malformations and congenital muscular dystrophy. Mutations of the ISPD gene have been identified as one of the most frequent causes of WWS. Objective The current study aimed to identify the cause of severe congenital hydrocephalus and brain dysplasia in our subject. Methods Genomic DNA was extracted from the fetus's umbilical cord blood and peripheral venous blood of the parents. The genetic analysis included whole-exome sequencing and qPCR. Additionally, in silico analysis and cellular experiments were performed. Results We identified a novel homozygous deletion of exons 7 to 9 in the ISPD gene of the fetus with WWS. In silico analysis revealed a defective domain structure in the C-terminus domain of the ISPD. Analysis of the electrostatic potential energy showed the formation of a new binding pocket formation on the surface of the mutant ISPD gene (ISPD-del ex7-9). Cellular study of the mutant ISPD revealed a significant change in its cellular localization, with the ISPD-del ex7-9 protein translocating from the cytoplasm to the nucleus compared to wild-type ISPD, which is mostly present in the cytoplasm. Conclusion The present study expands the mutational spectrum of WWS caused by ISPD mutations. Importantly, our work suggests that whole-exome sequencing could be considered as a diagnostic option for fetuses with congenital hydrocephalus and brain malformations when karyotype or chromosomal microarray analysis fails to provide a definitive diagnosis.

MMORPG 몰입감을 위한 캐릭터 성장 시스템 제안 : 중국 유저 중심으로

설위팅(Shi YuTing),오승환(Oh Seung Hwan) 한국디자인학회 2011 한국디자인학회 학술발표대회 논문집 Vol.2011 No.5

Structure and morphological characteristics of polygonal salt crust, the West Juyan Lake, China

Guoming Zhang,Yuting Xiao,Mingzhu Xiang,Chang Hong,Bo-Tao Zhang,Lianyou Liu,Peijun Shi,Jifu Liu 한국지질과학협의회 2022 Geosciences Journal Vol.26 No.3

Polygonal salt crust patches (PSCPs) in modern playas have critical hydrologic implications for arid areas, but the morphology and origin of these polygonal features are under debate. This study investigated the structure and morphological characteristics of crustal landforms in a modern playa located in the West Juyan Lake, western Inner Mongolia of China, through an integrated analysis of high-resolution remote sensing images obtained from Google Earth, pedestrian field surveys, and unmanned aerial vehicle photography. The study area covers approximately 2,650 ha and the number of salt crust patches was 3,491. Across this area, the coverage and number of salt crust patches varied with elevation and sedimentary environment. The results show that the polygonal patch pattern of the salt crust landforms was fractal, and similar polygonal patch perimeter to area ratios and landscape index values prevail in the study area. The wind erosion of material on the surface of the Gobi Desert, a mountain torrent alluvial fan, and material carried by seasonal river water probably provided the provenance of the regional salt crust landforms. The structure and morphological characteristics of salt crust in typical playas of the arid and semiarid region are important for better understanding their composition and sedimentary environment. This study can help reveal relevant information regarding environmental change and provide a reference for saline dust emissions from playas in arid areas.

Exogenous 5-aminolevulinic acid promotes plant growth and salinity tolerance of grape rootstocks in coastal areas

Zheng Weiwei,Tian Yuting,Shi Haili,Chen Miaomiao,Hong Seungbeom,Xu Kai,Cheng Jianhui,Zang Yunxiang 한국원예학회 2023 Horticulture, Environment, and Biotechnology Vol.64 No.2

Salinity stress is a key factor aff ecting grape production in coastal areas. Two grape rootstock cultivars, ‘Beta’ (sensitive to salt stress) and ‘3309 C’ (resistant to salt stress), were used to investigate the physiological role of 5-aminolevlinic acid (5-ALA) in salinity tolerance. Functional capacities in the rhizosphere, leaf phenotype, photosynthetic parameters, antioxidant enzymes activities and certain physiological indexes were determined after treatment with seawater or seawa- ter followed by 100 mg/L 5-ALA application. The results showed that the functional capacities of the rhizosphere were distinct between the two management regimes. Microbial biomass and soil enzyme activities were reduced by salinity but promoted by 5-ALA. Salinity also suppressed the overall plant growth, leaf chlorophyll content, photosynthetic rate, maxi- mal photochemical effi ciency (Fv/Fm), photochemical quenching (qP), electron transport rate (ETR), root activity, ATP content, ATPase activity, and activities of the antioxidant enzymes ascorbate peroxidase (APX), peroxidase (POD), cata- lase (CAT), and superoxide dismutase (SOD) in both cultivars. Although plant growth, chlorophyll content, and activities of antioxidant enzymes in Beta were decreased to a greater extent than those in 3309 C under salinity stress, exogenous application of 5-ALA signifi cantly improved plant growth along with enhancement of all the above photosynthetic param- eters and activities of the four antioxidant enzymes in both cultivars. Seawater treatment alone signifi cantly increased non- photochemical quenching (NPQ), relative electrical conductivity (REC), and malondialdehyde (MDA) contents in leaves, especially for Beta. However, 5-ALA treatment decreased the levels of NPQ, REC, and MDA, but increased ATP content and ATPase activity in roots and leaves of both cultivars. Thus, application of 5-ALA would be benefi cial to improve the salt tolerance of grape rootstocks grown in coastal areas.

Hair Growth Promoting Effects of 650 nm Red Light Stimulation on Human Hair Follicles and Study of Its Mechanisms via RNA Sequencing Transcriptome Analysis

( Kai Yang ),( Yulong Tang ),( Yanyun Ma ),( Qingmei Liu ),( Yan Huang ),( Yuting Zhang ),( Xiangguang Shi ),( Li Zhang ),( Yue Zhang ),( Ji’an Wang ),( Yifei Zhu ),( Wei Liu ),( Yimei Tan ),( Jinran 대한피부과학회 2021 Annals of Dermatology Vol.33 No.6

Background: Androgenetic alopecia (AGA) leads to thinning of scalp hair and affects 60%~70% of the adult population worldwide. Developing more effective treatments and studying its mechanism are of great significance. Previous clinical studies have revealed that hair growth is stimulated by 650-nm red light. Objective: This study aimed to explore the effect and mechanism of 650-nm red light on the treatment of AGA by using ex vivo hair follicle culture. Methods: Human hair follicles were obtained from hair transplant patients with AGA. Hair follicles were cultured in Williams E medium and treated with or without 650-nm red light. Real-time RT-PCR and immunofluorescence staining were used to detect the expression level of genes and proteins in hair follicles, respectively. RNA-sequencing analysis was carried out to reveal the distinct gene signatures upon 650 nm treatment. Results: Low-level 650 nm red light promoted the proliferation of human hair follicles in the experimental cultured-tissue model. Consistently, 650 nm red light significantly delayed the transition of hair cycle from anagen to catagen in vitro. RNA-seq analysis and gene clustering for the differentially expressed genes suggests that leukocyte transendothelial migration, metabolism, adherens junction and other biological process maybe involved in stimulation of hair follicles by 650-nm red light treatment. Conclusion: The effect of 650-nm red light on ex vivo hair follicles and the transcriptome set which implicates the role of red light in promoting hair growth and reversing of miniaturization process of AGA were identified.

Coffin-Siris syndrome in two chinese patients with novel pathogenic variants of ARID1A and SMARCA4

Liu Mingjie,Wan Linlin,Wang Chunrong,Yuan Hongyu,Peng Yun,Wan Na,Tang Zhichao,Yuan Xinrong,Chen Daji,Long Zhe,Shi Yuting,Qiu Rong,Tang Beisha,Tang Beisha,Chen Zhao 한국유전학회 2022 Genes & Genomics Vol.44 No.9

Background: Coffin-Siris syndrome (CSS) is a rare congenital syndrome characterized by developmental delay, intellectual disability, microcephaly, coarse face and hypoplastic nail of the fifth digits. Heterozygous variants of different BAF complex-related genes were reported to cause CSS, including ARID1A and SMARCA4. So far, no CSS patients with ARID1A and SMARCA4 variants have been reported in China. Objective: The aim of the current study was to identify the causes of two Chinese patients with congenital growth deficiency and intellectual disability. Methods: Genomic DNA was extracted from the peripheral venous blood of patients and their family members. Genetic analysis included whole-exome and Sanger sequencing. Pathogenicity assessments of variants were performed according to the guideline of the American College of Medical Genetics and Genomics. The phenotypic characteristics of all CSS subtypes were summarized through literature review. Results: We identified two Chinese CSS patients carrying novel variants of ARID1A and SMARCA4 respectively. The cases presented most core symptoms of CSS except for the digits involvement. Additionally, we performed a review of the phenotypic characteristics in CSS, highlighting phenotypic varieties and related potential causes. Conclusions: We reported the first Chinese CSS2 and CSS4 patients with novel variants of ARID1A and SMARCA4. Our study expanded the genetic and phenotypic spectrum of CSS, providing a comprehensive overview of genotype-phenotype correlations of CSS.