Human ribosomal RNA variants from a single individual and their expression in different tissues
Human ribosomal RNA variants from a single individual and their expression in different tissues
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DOI：
10.1093/nar/24.23.4817
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发表时间：
1996-12-01
影响因子：
14.9
通讯作者：
Sylvester, JE
中科院分区：
文献类型：
--
作者：
Kuo, BA;Gonzalez, IL;Sylvester, JE
我们研究了人类核糖体RNA（rRNA）基因的序列变异程度以及特定rRNA基因变异在个体不同组织中的表达，重点关注28S rRNA基因的第五个可变区（V5; nt 2065-2244），我们发现单个个体rRNA基因之间的序列差异以四个特定位点的简单序列重复次数的差异为特征，这些数据支持并扩展了先前的研究结果，即在28S rRNA基因中显示了类似的V5序列变异。来自一组个体的 rRNA 基因，我们进行了实验以确定 rRNA 多基因家族中是否存在差异基因表达。通过对从个体不同组织中分离出的 rRNA 保护免受 RNase 消化的六种变体 V5 探针的数据分析，我们得出结论，每种变体 rRNA 在这些组织中以相似的比例存在，而变体的实际贡献不同，它们的相对比例在个体的不同组织中保持不变。我们倾向于用基因剂量效应的解释而不是受调节基因效应的解释来解释 rRNA 基因表达的这种模式，此外，计算机生成的每个 V5 克隆结构的二级结构模型预测相同的三螺旋结构序列变异区域包含在一个茎环结构中。
We have investigated the extent of sequence variation in human ribosomal RNA (rRNA) genes and the expression of specific rRNA gene variants in different tissues of an individual, Focusing on the fifth variable region (V5; nt 2065-2244) of the 28S rRNA gene, we find that sequence differences between rRNA genes of a single individual are characterized by differences in number of repeats of simple sequences at four specific sites, These data support and extend previous findings which show similar V5 sequence variation in rRNA genes from a group of individuals, We performed experiments to determine if there is differential gene expression within the rRNA multigene family. From the analysis of data of six variant V5 probes protected from RNase digestion by rRNAs isolated from different tissues of the individual, we conclude that each variant rRNA is present in a similar proportion in these tissues, whereas the actual contributions of variants differ, their relative proportion is maintained from tissue to tissue in an individual, We favor the explanation of a gene dosage effect over that of a regulated gene effect to account for this pattern of rRNA gene expression, In addition, computer generated secondary structure models of each V5 clone structure predict the same three helix structure with the regions of sequence variation contained in one stem-loop structure.