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LINE-1 preTa Elements in the Human Genome.

机译:人类基因组中的LINE-1 preTa元素。

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摘要

The preTa subfamily of long interspersed elements (LINEs) is characterized by a three base-pair "ACG" sequence in the 3' untranslated region, contains approximately 400 members in the human genome, and has low level of nucleotide divergence with an estimated average age of 2.34 million years old suggesting that expansion of the L1 preTa subfamily occurred just after the divergence of humans and African apes. We have identified 362 preTa L1 elements from the draft human genomic sequence, investigated the genomic characteristics of preTa L1 insertions, and screened individual elements across diverse human populations and various non-human primate species using polymerase chain reaction (PCR) assays to determine the phylogenetic origin and levels of human genomic diversity associated with the L1 elements. All of the preTa L1 elements analyzed by PCR were absent from the orthologous positions in non-human primate genomes with 33 (14%) of the L1 elements being polymorphic with respect to insertion presence or absence in the human genome. The newly identified L1 insertion polymorphisms will prove useful as identical by descent genetic markers for the study of human population genetics. We provide evidence that preTa L1 elements show an integration site preference for genomic regions with low GC content. Computational analysis of the preTa L1 elements revealed that 29% of the elements amenable to complete sequence analysis have apparently escaped 5' truncation and are essentially full-length (approximately 6kb). In all, 29 have two intact open reading frames and may be capable of retrotransposition.
机译:长散布元素(LINEs)的preTa亚家族的特征在于3'非翻译区中的三个碱基对“ ACG”序列,在人类基因组中包含约400个成员,且核苷酸发散水平较低,估计平均年龄大约有234万年的历史,这表明L1 preTa亚科的扩张是在人类和非洲猿类出现分歧之后发生的。我们已经从人类基因组序列草案中鉴定了362个preTa L1元素,研究了preTa L1插入的基因组特征,并使用聚合酶链反应(PCR)分析方法跨多种人群和非人类灵长类物种筛选了单个元素,以确定系统发育与L1元素相关的人类基因组多样性的起源和水平。通过PCR分析的所有preTa L1元件在非人灵长类动物基因组的直系同源位点均不存在,其中33个(14%)的L1元件在人基因组中存在或不存在多态。新近鉴定出的L1插入多态性将通过血统遗传标记被证明与人类人群遗传学研究相同。我们提供的证据表明preTa L1元素显示出具有低GC含量的基因组区域的整合位点偏好。 preTa L1元素的计算分析表明,适合完成序列分析的29%的元素显然逃脱了5'截短,并且基本上是全长的(约6kb)。总共29个具有两个完整的开放阅读框,并且可能能够逆转录。

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