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Single-cell transcriptome analysis reveals widespread monoallelic gene expression in individual rice mesophyll cells 被引量:5
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作者 Yingying Han Xiao Chu +4 位作者 Haopeng Yu Ying-Ke Ma Xiu-Jie Wang Wenfeng Qian Yuling Jiao 《Science Bulletin》 SCIE EI CAS CSCD 2017年第19期1304-1314,共11页
Monoallelic gene expression refers to the phenomenon that all transcripts of a gene in a cell are expressed from only one of the two alleles in a diploid organism. Although monoallelic gene expression has been occasio... Monoallelic gene expression refers to the phenomenon that all transcripts of a gene in a cell are expressed from only one of the two alleles in a diploid organism. Although monoallelic gene expression has been occasionally reported with bulk transcriptome analysis in plants, how prevalent it is in individual plant cells remains unknown. Here, we developed a single-cell RNA-seq protocol in rice and investigated allelic expression patterns in mesophyll cells of indica (93-11 ) and japonica (Nipponbare) inbred lines, as well as their F1 reciprocal hybrids. We observed pervasive monoallelic gene expression in individual mesophyll cells, which could be largely explained by stochastic and independent transcription of two alleles. By con- trast, two mechanisms that were proposed previously based on bulk transcriptome analyses, parent-of- origin effects and allelic repression, were not well supported by our data. Furthermore, monoallelically expressed genes exhibited a number of characteristics, such as lower expression levels, narrower H3K4me3/H3K9acJH3K27me3 peaks, and larger expression divergences between 93-11 and Nipponbare. Taken together, the development of a single-cell RNA-seq protocol in this study offers us an excellent opportunity to investigate the origins and prevalence of monoallelic gene expression in plant cells. 展开更多
关键词 monoallelic gene expressionSingle-cell RNA-seqRice mesophyll cellsIndependent allelic expression
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X chromosome inactivation and active X upregulation in therian mammals: facts, questions, and hypotheses
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作者 Reiner A.Veitia Frederic Veyrunes +1 位作者 Samuel Bottani James A.Birchler 《Journal of Molecular Cell Biology》 SCIE CAS CSCD 2015年第1期2-11,共10页
X chromosome inactivation is a mechanism that modulates the expression of X-linked genes in eutherian females(XX).Ohno proposed that to achieve a proper balance between X-linked and autosomal genes,those on the active... X chromosome inactivation is a mechanism that modulates the expression of X-linked genes in eutherian females(XX).Ohno proposed that to achieve a proper balance between X-linked and autosomal genes,those on the active X should also undergo a 2-fold upregula-tion.Although some support for Ohno's hypothesis has been provided through the years,recent genomic studies testing this hypoth-esis have brought contradictory results and fueled debate.Thus far,there are as many results in favor as against Ohno's hypothesis,depending on the nature of the datasets and the various assumptions and thresholds involved in the analyses.However,they have con-firmed the importance of dosage balance between X-linked and autosomal genes involved in stoichiometric relationships.These facts as well as questions and hypotheses are discussed below. 展开更多
关键词 X inactivation X chromosome upregulation monoallelic expression IMPRINTING dosage balance
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GJB2单杂合突变非综合征型耳聋患者GJB2序列长度检测 被引量:2
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作者 王辉兵 于飞 +5 位作者 戴朴 单希征 袁永一 张昕 康东洋 韩东一 《中华耳科学杂志》 CSCD 北大核心 2014年第1期54-56,共3页
目的检测GJB2单杂合突变非综合征型耳聋患者GJB2全序列中是否有大片段的碱基插入或缺失,研究GJB2全序列长链PCR方法和电泳方法。方法应用长链PCR方法对201例GJB2单杂合突变非综合征型耳聋患者进行GJB2全序列长度检测,对照组为111例听力... 目的检测GJB2单杂合突变非综合征型耳聋患者GJB2全序列中是否有大片段的碱基插入或缺失,研究GJB2全序列长链PCR方法和电泳方法。方法应用长链PCR方法对201例GJB2单杂合突变非综合征型耳聋患者进行GJB2全序列长度检测,对照组为111例听力正常的成年人。应用两步法PCR,调整加入DNA模板量、PCR延伸时间、循环次数等,0.8%琼脂糖凝胶电泳检测PCR产物的长度和量,调整加样槽的宽度、加样量、电泳电压、电流、电泳时间得到清晰条带,若PCR产物存在大片段碱基插入或缺失,用限制性内切酶BamHI进行内切酶反应,初步判断插入或缺失的大致位置。结果 201例GJB2单杂合突变患者中,GJB2序列长度未见大片段碱基插入或缺失。对照组GJB2序列长度未见异常。结论 GJB2单杂合突变非综合征型耳聋患者中GJB2序列长度检测未见明显异常。 展开更多
关键词 非综合征型耳聋 GJB2基因 单杂合突变 序列长度
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携带GJB2单杂合突变非综合征型耳聋患者GJA1突变分析 被引量:1
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作者 王辉兵 于飞 +3 位作者 戴朴 韩东一 张昕 康东洋 《中华耳科学杂志》 CSCD 北大核心 2013年第1期100-103,共4页
目的探讨携带GJB2基因单杂合突变非综合征型耳聋患者GJA1基因突变情况。方法对205例GJB2单杂合突变的非综合征型耳聋患者进行GJA1外显子2直接测序,对照组为111例听力正常成年人。结果 205例GJB2单杂合突变患者中,GJA1c.IVS2+1insA杂合突... 目的探讨携带GJB2基因单杂合突变非综合征型耳聋患者GJA1基因突变情况。方法对205例GJB2单杂合突变的非综合征型耳聋患者进行GJA1外显子2直接测序,对照组为111例听力正常成年人。结果 205例GJB2单杂合突变患者中,GJA1c.IVS2+1insA杂合突变3例(1.45%),c.456G>A和c.717G>A各1例,都为杂合同义突变。111例对照组中,c.IVS2+1insA杂合突变3例(2.70%),c.466A>G杂合突变1例。两组c.IVS2+1insA突变率无明显差异(校正χ2=0.115,P=0.735>0.05)。结论 GJB2单杂合突变非综合征型耳聋患者中GJA1检测未见致病突变。 展开更多
关键词 耳聋 GJB2基因 单等位基因突变 GJA1基因 DNA突变分析
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随机单等位基因的广泛表达 被引量:1
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作者 朱水山 王振杰 张吉翔 《生命的化学》 CAS CSCD 北大核心 2009年第5期743-745,共3页
不同基因的表达会产生不同表型,然而在相同环境背景下具有同一遗传基因的个体表型也具有明显的差异性。最近研究证实人类常染色体基因具有广泛的随机单等位基因表达现象,表明基因表达具有不确定性。这也许可以解释为什么同一遗传基因的... 不同基因的表达会产生不同表型,然而在相同环境背景下具有同一遗传基因的个体表型也具有明显的差异性。最近研究证实人类常染色体基因具有广泛的随机单等位基因表达现象,表明基因表达具有不确定性。这也许可以解释为什么同一遗传基因的个体对疾病的易感性和对药物的反应存在明显差异性。此类基因表达与某些人类疾病相关。 展开更多
关键词 单等位基因表达 随机表达 表型
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