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首页> 外文期刊>Molecular and Cellular Biology >The first intron in the human c-abl gene is at least 200 kilobases long and is a target for translocations in chronic myelogenous leukemia.
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The first intron in the human c-abl gene is at least 200 kilobases long and is a target for translocations in chronic myelogenous leukemia.

机译：人类c-abl基因中的第一个内含子长至少200 kb，是慢性粒细胞性白血病易位的靶标。

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摘要

The c-abl protooncogene is unusual in two respects; it has multiple, widely space N-terminal coding exons transcribed by different promoters, and it is the target of the translocations that form the Philadelphia chromosome found in cells of chronic myelogenous leukemia patients. To understand the organization of the gene in normal and chronic myelogenous leukemia patient DNA we have mapped c-abl by pulsed field gradient gel electrophoresis. We find that one of the alternative 5' exons of the gene lies at least 200 kilobases upstream of the remaining c-abl exons, posing formidable transcription and splicing problems. The 5'-most c-abl exon includes an unusually long 1,276-base-pair segment that contains 15 ATG codons and multiple short open reading frames, upstream of the abl initiator codon. Its peculiar structure suggests that c-abl may be decapitated in most chronic myelogenous leukemia patients, and we demonstrate that this is the case in the chronic myelogenous leukemia cell line K562.
机译：c-abl原癌基因在两个方面很不寻常。它具有由不同启动子转录的多个宽间隔的N末端编码外显子，并且它是形成慢性粒细胞性白血病患者细胞中形成的费城染色体的易位的靶标。为了了解该基因在正常和慢性粒细胞性白血病患者DNA中的组织，我们通过脉冲场梯度凝胶电泳对c-abl进行了定位。我们发现，该基因的替代5'外显子之一位于其余c-abl外显子上游至少200 kb处，构成了可怕的转录和剪接问题。最靠近5'端的c-abl外显子包括一个异常长的1,276个碱基对的片段，其中包含15个ATG密码子和多个短开放阅读框，位于abl起始密码子的上游。其独特的结构表明c-abl在大多数慢性粒细胞性白血病患者中可能被斩首，我们证明在慢性粒细胞性白血病细胞系K562中就是这种情况。

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