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与DXS6974E和DXS7020E相关的两个新基因的X染色体失活逃逸

Escape from X inactivation of two new genes associated with DXS6974E and DXS7020E.

作者信息

Esposito T, Gianfrancesco F, Ciccodicola A, D'Esposito M, Nagaraja R, Mazzarella R, D'Urso M, Forabosco A

机构信息

Dipartimento di Scienze Morfologiche e Medico-Legali, Università di Modena, Italy.

出版信息

Genomics. 1997 Jul 15;43(2):183-90. doi: 10.1006/geno.1997.4797.

Abstract

Most genes on the X chromosome undergo "inactivation," being transcribed from only one copy in female somatic cells, but several human genes have been shown to be expressed from both the active and the otherwise inactivated homologue. To assess further the fraction and location of genes that escape inactivation, we have analyzed the inactivation status of a set of 73 expressed sequence tags that were derived from the sequencing of cDNA collections and mapped to the X chromosome. Of 33 that were expressed in cultured cells, as assessed by reverse transcription and PCR, 4 (about 12%) were transcribed from both the active and the inactive X chromosome. Two, RPS4 and PCTAIRE1, are already known to escape inactivation; the other 2, of unknown function, include a short cDNA with a full open reading frame and a transcript with no detectable open reading frame. They map, respectively, to Xp11.3-p11.4 and Xp22.2; both regions were previously reported to encode sequences transcribed from the inactive X. Neither transcript has a corresponding sequence on the Y. Thus, they exhibit double dosage in females compared to males, and inactivation status may be inconsequential for these transcribed sequences.

摘要

X染色体上的大多数基因会发生“失活”,在雌性体细胞中仅从一个拷贝进行转录,但已证明有几个人类基因可从活性同源物和原本失活的同源物中都进行表达。为了进一步评估逃避失活的基因的比例和位置,我们分析了一组73个表达序列标签的失活状态,这些标签来自cDNA文库测序并定位到X染色体上。通过逆转录和PCR评估,在培养细胞中表达的33个标签中,有4个(约12%)从活性X染色体和失活X染色体上都进行转录。其中两个,RPS4和PCTAIRE1,已知逃避失活;另外两个功能未知,一个是具有完整开放阅读框的短cDNA,另一个是没有可检测到的开放阅读框的转录本。它们分别定位于Xp11.3 - p11.4和Xp22.2;这两个区域先前都报道可编码从失活X染色体转录的序列。这两个转录本在Y染色体上都没有相应序列。因此,与雄性相比,它们在雌性中表现为双倍剂量,并且失活状态对于这些转录序列可能无关紧要。

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