http://chineseinput.net/에서 pinyin(병음)방식으로 중국어를 변환할 수 있습니다.
변환된 중국어를 복사하여 사용하시면 됩니다.
Yingchuan Zhu,Hao Tan,Jiarong Zeng,Da-chang Tao,Yong-xin Ma,Yun-qiang Liu 한국유전학회 2019 Genes & Genomics Vol.41 No.3
Background Retinitis pigmentosa (RP) is the most common form of hereditary retinal degeneration that can cause inherited blindness. RP has extreme genetic and clinical heterogeneity, which brings a major obstacle to obtaining an accurate molecular diagnosis. Objective To analyze the genetic defect in a Chinese family of RP with a few atypical manifestations. Methods Whole-exome sequencing (WES) was applied to identify the disease-associated genes. Sanger sequencing was performed to validate the variants of candidate genes in the patient and his parents. In vitro expression analysis was further conducted to examine the potential biological function of the gene variant. Results A heterozygous nonsense variant c.292C > T (p.R98X) of CRX gene was identified to be present in the affected male. The c.292C > T variant of CRX was absent in all of the searched databases, including the 10,000 Chinese exome database. The nonsense variant was supposed to result in a truncated CRX protein with a destroyed homedomain (HD), which is essential for CRX translation. Interestingly, the following assay showed that the potential truncated protein was not detected, indicating that the variant may cause a loss-of-function mutation of CRX gene. Conclusion We identified a novel heterozygous null mutation in the CRX gene which was the first evidence of a nonsense mutation in the HD domain of CRX. Our finding suggested that the haploinsufficiency mutation of CRX gene contributed to the atypical and mild manifestations of the autosomal dominant RP in the Chinese family.
Znf45l affects primitive hematopoiesis by regulating transforming growth factor-β signaling
( Hui Juan Chen ),( Hua Qin Sun ),( Da Chang Tao ),( Ping Yang ),( Sha Sha Bian ),( Yun Qiang Liu ),( Si Zhong Zhang ),( Yong Xin Ma ) 생화학분자생물학회 2014 BMB Reports Vol.47 No.1
Znf45l, containing classical C2H2 domains, is a novel member of Zinc finger proteins in zebrafish. In vertebrates, TGF-βsignaling plays a critical role in hematopoiesis. Here, we showed that Znf45l is expressed both maternally and zygotically throughout early development. Znf45l-depleted Zebrafish embryos display shorter tails and necrosis with reduced expression of hematopoietic maker genes. Furthermore, we revealed that znf45l locates downstream of TGF-β ligands and maintains normal level of TGF-β receptor type II phosphorylation. In brief, our results indicate that znf45l affects initial hematopoietic development through regulation of TGF-β signaling. [BMB Reports 2014; 47(1): 21-26]
Identification of piRNAs in Hela cells by massive parallel sequencing
( Yi Lu Lu ),( Chao Li ),( Kun Zhang ),( Hua Qin Sun ),( Da Chang Tao ),( Yun Qiang Liu ),( Si Zong Zhang ),( Yong Xin Ma ) 생화학분자생물학회 2010 BMB Reports Vol.43 No.9
Piwi proteins and Piwi-interacting RNAs (piRNAs) have been implicated in transposon control in germline from Drosophila to mammals. To examine the profile of small RNA expression in human cancer cells and explore difference in small RNA transcriptome, small RNA libraries prepared from wildtype, HILI overexpressed and HILI knockdowned Hela cells were sequenced using Solexa technology. piRNAs and other repeat- associated small RNAs were observed in Hela cells. By using in situ hybridization, piR-49322 was localized in the nucleolus and around the periphery of nuclear membrane in Hela cells. Following the overexpression of HILI, the retrotransposon elements LINE1 was significantly repressed, while LINE1-associated small RNAs decreased in abundance. The present study demonstrated that HILI along with piRNAs plays a role in LINE1 suppression in Hela cancer cell line. [BMB reports 2010; 43(9): 635-641]
Promoter demethylation mediates the expression of ZNF645, a novel cancer/testis gene
( Gang Bai ),( Yun Qiang Liu ),( Hao Zhang ),( Dan Su ),( Da Chang Tao ),( Yuan Yang ),( Yong Xin Ma ),( Si Zhong Zhang ) 생화학분자생물학회 2010 BMB Reports Vol.43 No.6
Cancer/testis (CT) antigens exhibit highly tissue-restricted expression and are considered promising targets for cancer vaccines. Here we identified a novel CT gene ZNF645 which restrictively expresses in normal human testes and lung cancer patients (68.3%). To investigate the promoter methylation status of ZNF645, we carried out bisulfite genomic sequencing and found that the CpG island in its promoter was heavily methylated in normal lung tissues without the expression of ZNF645, whereas there was high demethylation in normal human testes and lung carcinoma tissues with its expression. Also ZNF645 could be remarkably activated in A549 and HEK293T cells treated by DNA demethylation agent 5`-aza-2`-deoxycytidine. And the dual luciferase assay revealed that the promoter activity of the ZNF645 was inhibited by methylation of the CpG island region. Therefore, we proposed that ZNF645 is a CT gene and activated in human testis and lung cancers by demethylation of its promoter region. [BMB reports 2010; 43(6): 400-406]
CLOCK and BMAL1 stabilize and activate RHOA to promote F-actin formation in cancer cells
Teng-jiao Ma,Zhi-wei Zhang,Yilu Lu,Ying-ying Zhang,Da-chang Tao,Yun-qiang Liu,Yong-xin Ma 생화학분자생물학회 2018 Experimental and molecular medicine Vol.50 No.-
Circadian genes control most of the physiological functions in cancer cells, including cell proliferation, migration, and invasion. The CLOCK and BMAL1 complex plays a central role in circadian rhythms. Previous studies have shown that circadian genes may act as oncogenes or tumor-suppressor genes. In addition, F-actin, regulated by RHOA, has been shown to participate in tumor progression. However, the roles of the CLOCK and BMAL1 genes in the regulation of tumor progression via the RHOA-ROCK-CFL pathway remain largely unclear. Here we first indicate that the rearrangement of F-actin is regulated by CLOCK and BMAL1. We found that CLOCK and BMAL1 can upregulate RHOA expression by inhibiting CUL3-mediated ubiquitination and activate RHOA by reducing the interaction between RHOA and RhoGDI. Consequently, CLOCK and BMAL1 control the expression of the components of the RHOA-ROCK-CFL pathway, which alters the dynamics of F-actin/G-actin turnover and promotes cancer cell proliferation, migration,
( Yun Qiang Liu ),( Mei Ling Wang ),( Si Yuan Jiang ),( Yong Jie Lu ),( Da Chang Tao ),( Yuan Yang ),( Yong Xin Ma ),( Si Zhong Zhang ) 생화학분자생물학회 2014 BMB Reports Vol.47 No.2
Tissue-specific gene expression is regulated by epigenetic modification involving trans-acting factors. Here, we identified that the human MAGEB16 gene and its mouse homolog, Mageb16, are only expressed in the testis. To investigate the mechanism governing their expression, the promoter methy-lation status of these genes was examined in different samples. Two CpG islands (CGIs) in the 5` upstream region of MAGEB16 were highly demethylated in human testes, whereas they were methylated in cells without MAGEB16 expression. Similarly, the CGI in Mageb16 was hypomethylated in mouse testes but hypermethylated in other tissues and cells without Mageb16 expression. Additionally, the expression of these genes could be activated by treatment with the demethylation agent 5`-aza-2`- deoxycytidine (5`-aza-CdR). Luciferase assays revealed that both gene promoter activities were inhibited by methylation of the CGI regions. Therefore, we propose that the testis-specific expression of MAGEB16 and Mageb16 is regulated by the methylation status of their promoter regions. [BMB Reports 2014; 47(2): 86-91]
Zebrafish Dnd protein binds to 3`UTR of geminin mRNA and regulates its expression
( Shu Chen ),( Mei Zeng ),( Hua Qin Sun ),( Wen Qian Deng ),( Yi Lu Lu ),( Da Chang Tao ),( Yun Qiang Liu ),( Si Zhong Zhang ),( Yong Xin Ma ) 생화학분자생물학회 2010 BMB Reports Vol.43 No.6
Dnd (dead end) gene encodes an RNA binding protein and is specifically expressed in primordial germ cells (PGCs) as a vertebrate-specific component of the germ plasma throughout embryogenesis. By utilizing a technique of specific nucleic acids associated with proteins (SNAAP), 13 potential target mRNAs of zebrafish Dnd (ZDnd) protein were identified from 8-cell embryo, and 8 target mRNAs have been confirmed using an RT-PCR analysis. Of the target mRNAs, the present study is focused on the regulation of geminin, which is an inhibitor of DNA replication. Using electrophoretic mobility shift assay (EMSA), we demonstrated that ZDND protein bound the 67-nucleotide region from 864 to 931 in the 3`UTR of geminin mRNA, a sequence containing 60.29% of uridine. Results from a dual-luciferase assay in HEK293 cells showed that ZDND increases the translation of geminin. Taken together, the identification of target mRNA for ZDnd will be helpful to further explore the biological function of Dnd in zebrafish germ-line development as well as in cancer cells. [BMB reports 2010; 43(6): 438-444]