Nordquist N, Oreland L
Department of Neuroscience, Uppsala University, Uppsala, Sweden.
J Neural Transm (Vienna). 2007;114(6):713-6. doi: 10.1007/s00702-007-0676-x. Epub 2007 Apr 4.
X chromosome inactivation in mammalian females occurs early in embryonic development and renders most genes on the inactive X chromosome transcriptionally silenced. As a consequence, females will display an X chromosomal parent-of-origin mosaicism with regard to which parental allele that is expressed. Some genes however, escape inactivation and will therefore be expressed from both alleles. In this study we have investigated if the X-linked MAO-A gene have bi- or mono-allelic expression. This information would indicate whether or not MAO-A gene dosage could potentially explain the observed gender differences that show functional connections to the serotonin system, such as aggression and impulsiveness. To investigate the X inactivation status of MAO-A we have used primary clonal cell cultures, on which allelic expression was assessed with RFLP analysis. Our results show that the MAO-A gene has mono-allelic expression in these cells. This could have important implications for understanding traits that display gender differences.
哺乳动物雌性个体的X染色体失活发生在胚胎发育早期,使失活X染色体上的大多数基因在转录上沉默。因此,雌性个体在表达哪个亲本等位基因方面会表现出X染色体亲本来源的镶嵌现象。然而,一些基因逃避了失活,因此会从两个等位基因中表达。在本研究中,我们调查了X连锁的单胺氧化酶A(MAO-A)基因是双等位基因表达还是单等位基因表达。这一信息将表明MAO-A基因剂量是否可能解释所观察到的与血清素系统存在功能联系的性别差异,如攻击性和冲动性。为了研究MAO-A的X失活状态,我们使用了原代克隆细胞培养物,并通过限制性片段长度多态性(RFLP)分析评估等位基因表达。我们的结果表明,MAO-A基因在这些细胞中具有单等位基因表达。这对于理解表现出性别差异的性状可能具有重要意义。