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首页> 外文期刊>Molecular and Cellular Biology >Partial deletion of alpha satellite DNA associated with reduced amounts of the centromere protein CENP-B in a mitotically stable human chromosome rearrangement.
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Partial deletion of alpha satellite DNA associated with reduced amounts of the centromere protein CENP-B in a mitotically stable human chromosome rearrangement.

机译:与有丝分裂稳定的人类染色体重排中着丝粒蛋白CENP-B减少量相关的α卫星DNA的部分缺失。

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摘要

A familial, constitutionally rearranged human chromosome 17 is deleted for much of the DNA in its centromeric region but retains full mitotic centromere activity. Fluorescence in situ hybridization, pulsed-field gel electrophoresis, and Southern blot analysis of the residual centromeric region revealed a approximately 700-kb centromeric array of tandemly repeated alpha satellite DNA that was only approximately 20 to 30% as large as a normal array. This deletion was associated with a reduction in the amount of the centromere-specific antigen CENP-B detected by indirect immunofluorescence. The coincidence of the primary constriction, the small residual array of alpha satellite DNA, and the reduced amount of detectable CENP-B support the hypothesis that CENP-B is associated with alpha satellite DNA. Furthermore, the finding that both the deleted chromosome 17 and its derivative supernumerary fragment retained mitotic function and possess centromeric protein antigens suggests that human centromeres are structurally and functionally repetitive.
机译:在其着丝粒区域的大部分DNA中,家族性,结构重排的人染色体17被删除,但保留了完整的有丝分裂着丝粒活性。荧光原位杂交,脉冲场凝胶电泳和残留着丝粒区域的Southern印迹分析显示,串联重复的α卫星DNA的约700 kb着丝粒阵列,其大小仅为正常阵列的约20%至30%。该缺失与通过间接免疫荧光检测到的着丝粒特异性抗原CENP-B的量减少有关。主要收缩的巧合,α卫星DNA的残留阵列较小以及可检测的CENP-B数量减少,支持了CENP-B与α卫星DNA相关的假设。此外,发现缺失的17号染色​​体及其衍生的多余片段都保留了有丝分裂功能并拥有着丝粒蛋白抗原,这一发现表明人着丝粒在结构和功能上都是重复的。

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