X chromosome inactivation in the human placenta is patchy and distinct from adult tissues.
X chromosome inactivation in the human placenta is patchy and distinct from adult tissues.
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DOI：
10.1016/j.xhgg.2022.100121
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发表时间：
2022-07-14
期刊：
影响因子：
--
通讯作者：
Wilson, Melissa A.
中科院分区：
文献类型：
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作者：
Phung, Tanya N.;Olney, Kimberly C.;Pinto, Brendan J.;Silasi, Michelle;Perley, Lauren;O'Bryan, Jane;Kliman, Harvey J.;Wilson, Melissa A.
在人类中，遗传女性中的一条X染色体被称为X染色体失活（XCI）的过程失活。XCI在整个胎盘中的变化可能有助于观察到的性别差异和妊娠结局的变异性。然而，XCI主要在成人组织中进行研究。在这里，我们对来自30名足月妊娠的两个位置的DNA和RNA进行了测序和分析。实施等位基因特异性的方法来检查XCI，我们报告的证据表明，XCI在人类胎盘是斑片状的，与大补丁的母亲或父亲的X染色体失活。此外，使用类似的测量，我们表明，这是相反的成人组织，通常表现出马赛克X失活，其中散装样品表现出母亲和父亲的X染色体表达。此外，通过比较胎盘和成人组织中的偏斜样本，我们确定了与成人组织相比在胎盘中唯一失活或表达的基因，突出了对XCI组织特异性图谱的需要。我们证实并扩展了以前的研究结果，提出了人类胎盘中X失活斑块的证据。我们发现，这是独特的胎盘相比，成人组织，但大多数基因，有五个显着的例外，在胎盘和成人组织中表现出类似的逃逸或不活跃的状态。关键词：胎盘; X-失活，体细胞;逃逸; X染色体
In humans, one of the X chromosomes in genetic females is inactivated by a process called X chromosome inactivation (XCI). Variation in XCI across the placenta may contribute to observed sex differences and variability in pregnancy outcomes. However, XCI has predominantly been studied in human adult tissues. Here, we sequenced and analyzed DNA and RNA from two locations from 30 full-term pregnancies. Implementing an allele-specific approach to examine XCI, we report evidence that XCI in the human placenta is patchy, with large patches of either maternal or paternal X chromosomes inactivated. Further, using similar measurements, we show that this is in contrast to adult tissues, which generally exhibit mosaic X inactivation, where bulk samples exhibit both maternal and paternal X chromosome expression. Further, by comparing skewed samples in placenta and adult tissues, we identify genes that are uniquely inactivated or expressed in the placenta compared with adult tissues, highlighting the need for tissue-specific maps of XCI. We confirm and extend previous findings, presenting evidence for patchiness of X inactivation in the human placenta. We show that this is unique to the placenta compared with adult tissues but that most genes, with five notable exceptions, show similar escape or inactive status in the placenta and adult tissues. Keywords: placenta; X-inactivation, somatic; escape; X chromosome
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使用下一代 DNA 测序数据进行变异发现和基因分型的框架。
影响因子：
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