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首页> 外文期刊>Proceedings of the National Academy of Sciences of the United States of America >Evolution and expression of chimeric POTE-actin genes in the human genome
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Evolution and expression of chimeric POTE-actin genes in the human genome

机译：嵌合POTE-actin基因在人类基因组中的进化和表达

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摘要

We previously described a primate-specific gene family, POTE, that is expressed in many cancers but in a limited number of normal organs. The 13 POTE genes are dispersed among eight different chromosomes and evolved by duplications and remodeling of the human genome from an ancestral gene, ANKRD26. Based on sequence similarity, the POTE gene family members can be divided into three groups. By genome database searches, we identified an actin retroposon insertion at the carboxyl terminus of one of the ancestral POTE paralogs. By Northern blot analysis, we identified the expected 7.5-kb POTE-actin chimeric transcript in a breast cancer cell line. The protein encoded by the POTE-actin transcript is predicted to be 120 kDa in size. Using anti-POTE mAbs that recognize the amino-terminal portion of the POTE protein, we detected the 120-kDa POTE-actin fusion protein in breast cancer cell lines known to express the fusion transcript. These data demonstrate that insertion of a retroposon produced an altered functional POTE gene. This example indicates that new functional human genes can evolve by insertion of retroposons.
机译：我们先前描述了灵长类动物特异性基因家族POTE，该家族在许多癌症中表达，但在有限数量的正常器官中表达。 13个POTE基因分散在八个不同的染色体中，并通过从祖传基因ANKRD26复制和重塑人类基因组而进化而来。基于序列相似性，PO​​TE基因家族成员可分为三类。通过基因组数据库搜索，我们确定了祖先POTE旁系同源物之一的羧基末端的肌动蛋白逆转录子插入。通过Northern印迹分析，我们在乳腺癌细胞系中鉴定了预期的7.5-kb POTE-肌动蛋白嵌合转录物。预测POTE-肌动蛋白转录本编码的蛋白质大小为120 kDa。使用识别POTE蛋白氨基末端部分的抗POTE mAb，我们在已知表达融合转录本的乳腺癌细胞系中检测到了120 kDa POTE-肌动蛋白融合蛋白。这些数据证明，插入反转录子产生了功能改变的POTE基因。这个例子表明，新功能的人类基因可以通过插入逆转录子而进化。

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