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从基因敲除中可学到更多东西。

More to learn from gene knockouts.

作者信息

Shastry B S

机构信息

Eye Research Institute, Oakland University, Rochester, MI 48309-4401.

出版信息

Mol Cell Biochem. 1994 Jul 27;136(2):171-82. doi: 10.1007/BF00926078.

DOI:10.1007/BF00926078
PMID:7845371
Abstract

Gene targeting by homologous recombination in mouse embryonic stem cells is a powerful technique to determine the physiological function of any gene product in embryonic and postnatal development and in molecular pathogenesis. Although the technique is very demanding and still in its developing stage several knockout mice carrying disrupted genes, which were once thought important for the development or molecular pathogenesis of certain tissues, have given unexpected results. A gene/function redundancy or superfluous and on-functional theory has been advanced by many investigators to explain the unexpected results. These surprising results may teach us a new lesson and lead to a revision of the strongly held view that highly conserved and abundantly expressed genes have a prominent role and function in cell physiology and development. Additional, they may also support the notion that molecular cross-talk among the genes may play an important role in determining the minimal phenotype.

摘要

通过同源重组在小鼠胚胎干细胞中进行基因打靶,是一种用于确定任何基因产物在胚胎期和出生后发育以及分子发病机制中的生理功能的强大技术。尽管该技术要求很高且仍处于发展阶段,但几只携带被破坏基因的基因敲除小鼠(这些基因曾被认为对某些组织的发育或分子发病机制很重要)却给出了意想不到的结果。许多研究人员提出了基因/功能冗余或多余及无功能理论来解释这些意外结果。这些惊人的结果可能会给我们一个新的教训,并导致对一种根深蒂固的观点进行修正,即高度保守且大量表达的基因在细胞生理和发育中具有突出的作用和功能。此外,它们也可能支持这样一种观点,即基因之间的分子相互作用在确定最小表型方面可能起重要作用。

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More to learn from gene knockouts.从基因敲除中可学到更多东西。
Mol Cell Biochem. 1994 Jul 27;136(2):171-82. doi: 10.1007/BF00926078.
2
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BRCA1 deficient embryonic stem cells display a decreased homologous recombination frequency and an increased frequency of non-homologous recombination that is corrected by expression of a brca1 transgene.BRCA1基因缺陷的胚胎干细胞显示出同源重组频率降低以及非同源重组频率增加,而通过表达BRCA1转基因可纠正这种情况。
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本文引用的文献

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Can genes be truly redundant?基因真的会是多余的吗?
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Gene disruption in mice: models of development and disease.小鼠基因敲除:发育与疾病模型
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TGF alpha deficiency results in hair follicle and eye abnormalities in targeted and waved-1 mice.转化生长因子α缺乏会导致靶向小鼠和waved-1小鼠出现毛囊和眼睛异常。
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