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一个在哺乳动物中易于形成假基因的高度保守的小鼠基因。

A highly conserved mouse gene with a propensity to form pseudogenes in mammals.

作者信息

Heller D L, Gianola K M, Leinwand L A

机构信息

Department of Genetics, Albert Einstein College of Medicine, Bronx, New York 10461.

出版信息

Mol Cell Biol. 1988 Jul;8(7):2797-803. doi: 10.1128/mcb.8.7.2797-2803.1988.

Abstract

A mouse cDNA clone corresponding to an abundantly transcribed poly(A)+ mRNA was found to be represented by 200 copies in mammalian genomes. To understand the origin and nature of this sequence family, we studied two genomic members and two cDNA clones from mouse liver. The DNA sequence of the coding strand of a full-length cDNA clone was shown to have an open reading frame capable of encoding a 25-kilodalton polypeptide that has not been previously described. In vitro transcription-translation experiments verified the presence of an open reading frame encoding a protein of the predicted size. Restriction analysis of genomic DNA and DNA sequence analysis of genomic clones indicated that many of the 200 members of this family represent processed pseudogenes, with one or a small number of active structural genes. The vast majority of the genomic copies are heterogeneous in length, truncated at their 5' ends with respect to the mRNA, and do not appear to have intervening sequences. Two distinct genomic members of this family were sequenced and found to represent incomplete copies of the mRNA. Both are 5' truncated at slightly different points with respect to the mRNA. Both pseudogenes have multiple base changes, insertions, and deletions relative to the mRNA, and one of them encodes the poly(A) tail of the mRNA. The expression of this gene family is highest in rapidly dividing cells such as early mouse embryos and testis, but was seen in all tissues tested. This gene shows extremely high sequence conservation, extending to chicken, amphibian, and nematode genomes. Surprisingly, the gene appears to exist in only one copy in these organisms.

摘要

发现一个与大量转录的多聚腺苷酸加尾(poly(A)+)mRNA相对应的小鼠cDNA克隆在哺乳动物基因组中由200个拷贝代表。为了了解这个序列家族的起源和性质,我们研究了来自小鼠肝脏的两个基因组成员和两个cDNA克隆。一个全长cDNA克隆编码链的DNA序列显示有一个开放阅读框,能够编码一个25千道尔顿的多肽,该多肽此前未被描述过。体外转录-翻译实验证实了存在一个编码预测大小蛋白质的开放阅读框。基因组DNA的限制性分析和基因组克隆的DNA序列分析表明,这个家族的200个成员中有许多代表加工假基因,只有一个或少数几个活性结构基因。绝大多数基因组拷贝长度各异,相对于mRNA在其5'端被截断,并且似乎没有间隔序列。对这个家族的两个不同基因组成员进行了测序,发现它们代表mRNA的不完整拷贝。两者相对于mRNA在5'端截断的点略有不同。两个假基因相对于mRNA都有多个碱基变化、插入和缺失,其中一个编码mRNA的多聚腺苷酸尾。这个基因家族在快速分裂的细胞如早期小鼠胚胎和睾丸中表达最高,但在所有测试组织中都有表达。该基因显示出极高的序列保守性,延伸到鸡、两栖动物和线虫基因组。令人惊讶的是,该基因在这些生物体中似乎只存在一个拷贝。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8d76/363497/2a4c87afac0e/molcellb00067-0133-a.jpg

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