http://chineseinput.net/에서 pinyin(병음)방식으로 중국어를 변환할 수 있습니다.
변환된 중국어를 복사하여 사용하시면 됩니다.
- 中文 을 입력하시려면 zhongwen을 입력하시고 space를누르시면됩니다.
- 北京 을 입력하시려면 beijing을 입력하시고 space를 누르시면 됩니다.
RISS 인기검색어
- 검색키워드
- 저자 : Tao Dachang (검색결과 4 건)
- 무료
- 기관 내 무료
- 유료
-
Yunqiang Liu,Sizhong Zhang,Dachang Tao,Yuan Yang,Yongxin Ma 한국유전학회 2014 Genes & Genomics Vol.36 No.2
The testis-enriched genes ZNF230/Znf230 arelocated on human chromosome 11p15/mouse chromosome7 near conserved imprinting control regions. Typical CpGislands (CGIs) extend from the promoter to the first exon ineach of these genes. To investigate the correlation betweenthe methylation status of the above CGIs and the expressionpatterns of the two genes, we performed bisulfitegenomic sequencing of genomic DNA from human andmouse tissues and cells. The results showed that the CGIsof ZNF230/Znf230 were completely unmethylated in allselected tissues and cells, regardless of the expressionlevels of the two genes. Further experiments using Znf230-second-exon-knockout mice to investigate the imprintingstatus of Znf230 showed that its expression was notaffected by genomic imprinting. However, an in vitromethylation assay illustrated that the methylation of theseCpG sites could repress the expression of the luciferasereporter gene. Furthermore, chromatin immunoprecipitationwith anti-Specificity protein 1 (Sp1) antibody showedthat Sp1 could bind to the CGIs in the ZNF230/Znf230gene promoter. Thus, we propose that the unmethylatedstate of ZNF230/Znf230 CGIs may be a prerequisite fortheir expression but not sufficient for their abundantexpression in the testis, and that Sp1 binding may be onefactor involved in preserving the methylation-free state ofZNF230/Znf230 CGIs.
-
Li, Na,Sun, Huaqin,Wu, Qiaqing,Tao, Dachang,Zhang, Sizhong,Ma, Yongxin Korean Society for Biochemistry and Molecular Biol 2007 Journal of biochemistry and molecular biology Vol.40 No.2
We have cloned a novel mouse zinc finger protein gene Znf313 by rapid amplification of cDNA ends (RACE) according to the homologue of human ZNF313 gene. The cDNA is 2,163 base pairs (bp) in length and encodes a 229 amino acids (aa) protein with a $C_3HC_4$ ring finger domain and three $C_2H_2$ domains. 89% and 93% nucleotide (nt) and aa sequence identity is observed with its human homologue. Revealed by Northern blot and RT-PCR, full mRNA consists of 2.16 kb and widely expresses in tissues as a single transcript, most abundantly in heart, liver, kidney and testis. The expression of Znf313 in testis is detected in all development stages. Western blot analysis also reveals that Znf313 is expressed in the tissues. Immunohistochemical staining and subcellular localization demonstrate that Znf313 is expressed both in the cytoplasm and nucleus whereas predominantly localized in the nucleus. Present data suggests that Znf313 gene might play a fundamental role in gene transcription and regulation in organism and relates to spermatogenesis.
-
Yingchuan Zhu,Lijun Yang,Tengjiao Ma,Yilu Lu,Dachang Tao,Yunqiang Liu,Yongxin Ma 한국유전학회 2020 Genes & Genomics Vol.42 No.9
Background Duchenne muscular dystrophy (DMD) is a fatal X-linked recessive disorder with no efective treatment, which underscores the importance of avoiding the birth of children with DMD by identifying pathogenic mutations and obtaining an accurate prenatal diagnosis. Objective The objective of this study was to analyze the genetic defect of a Chinese family where all male patients have died of DMD. Methods Multiplex ligation dependent probe analysis (MLPA) and next-generation sequencing (NGS) were employed to detect DMD mutations. The candidate mutations were then validated by Sanger sequencing. In vitro splicing assay was further conducted to examine the potential efect of the novel DMD splice site mutation on splicing. Results We found that two rare DMD mutations c.1318G>A and c.6438+2T>G passed from generation to generation among female carriers and they may be used as genetic markers in the Chinese DMD family. In vitro splicing assay further revealed that the novel classical splice site mutation c.6438+2T>G gave rise to a new donor splice site, which resulted in a frame shift of the transcripts and a premature termination at position 2159 in exon 45 (p.Y2144Nfs*16). Conclusion We found that two co-inherited mutations passed from generation to generation in female carriers and they may be used as genetic markers in the Chinese DMD family. Our fndings not only expanded the DMD mutation spectrum, but also provided an important basis for identifying of female carriers and avoiding the birth of afected male children in this DMD family.
-
Wu Na,Zhu Yingchuan,Jiang Wenhao,Song Yue,Yin Lan,Lu Yilu,Tao Dachang,Liu Yunqiang,Ma Yongxin 한국유전학회 2022 Genes & Genomics Vol.44 No.5
Background: NPHS2 is the causative gene of nephrotic syndrome type 2 (MIM 600995) which often clinically manifests as steroid-resistant nephrotic syndrome (SRNS). The NPHS2 gene encodes a slit diaphragm (SD) associated protein podocin. Objective: This study reported a novel disease-causing mutation of NPHS2 in a Chinese family with SRNS. We also investigated the pathogenic mechanism of the variants in this family. Method: A Chinese family with SRNS was recruited. Whole exome sequencing was performed to screen for disease-causing mutation. Sanger sequencing was used to confirm the results. In vitro functional experiments including immunoblotting, co-immunoprecipitation and double immunofluorescence staining were performed to explore the pathogenic mechanisms of mutations. Results: In this family, compound heterozygous mutations of NPHS2 (c.467dupT and c.865A > G) were identified and segregated with the disease. The maternal c.865A > G was a novel variant, leading to amino acid substitution (p.K289E). In vitro functional assays indicated that c.467dupT (p.L156FfsX11) mutant lost interaction with nephrin. Both K289E and L156FfsX11 mutants showed sharply diminished plasma membrane localization. Furthermore, abnormal distribution of podocin mutants also altered the cell membrane localization of nephrin. Conclusion: We reported a family with SRNS caused by compound heterozygous mutations of NPHS2 (c.467dupT and c.865A > G). c.865A > G (p.K289E) in NPHS2 was a novel causative variant associated with SRNS. Both variants in this family not only affected the normal cell membrane localization of podocin, but also altered the cell membrane localization of nephrin which is the major architectural protein of SD.
연관 검색어 추천
이 검색어로 많이 본 자료
활용도 높은 자료
