Young Juan I, Zoghbi Huda Y
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Am J Hum Genet. 2004 Mar;74(3):511-20. doi: 10.1086/382228. Epub 2004 Feb 17.
Rett syndrome (RTT), a neurodevelopmental disorder affecting mostly females, is caused by mutations in the X-linked gene encoding methyl-CpG-binding protein 2 (MeCP2). Although the majority of girls with classic RTT have a random pattern of X-chromosome inactivation (XCI), nonbalanced patterns have been observed in patients carrying mutant MECP2 and, in some cases, account for variability of phenotypic manifestations. We have generated an RTT mouse model that recapitulates all major aspects of the human disease, but we found that females exhibit a high degree of phenotypic variability beyond what is observed in human patients with similar mutations. To evaluate whether XCI influences the phenotypic outcome of Mecp2 mutation in the mouse, we studied the pattern of XCI at the single-cell level in brains of heterozygous females. We found that XCI patterns were unbalanced, favoring expression of the wild-type allele, in most mutant females. It is notable that none of the animals had nonrandom XCI favoring the mutant allele. To explore why the XCI patterns favored expression of the wild-type allele, we studied primary neuronal cultures from Mecp2-mutant mice and found selective survival of neurons in which the wild-type X chromosome was active. Quantitative analysis indicated that fewer phenotypes are observed when a large percentage of neurons have the mutant X chromosome inactivated. The study of neuronal XCI patterns in a large number of female mice carrying a mutant Mecp2 allele highlights the importance of MeCP2 for neuronal viability. These findings also raise the possibility that there are human females who carry mutant MECP2 alleles but are not recognized because their phenotypes are subdued owing to favorable XCI patterns.
瑞特综合征(RTT)是一种主要影响女性的神经发育障碍,由编码甲基CpG结合蛋白2(MeCP2)的X连锁基因突变引起。尽管大多数典型RTT女孩具有随机的X染色体失活(XCI)模式,但在携带突变型MECP2的患者中观察到了不均衡模式,并且在某些情况下,这解释了表型表现的变异性。我们构建了一个能够概括人类疾病所有主要方面的RTT小鼠模型,但我们发现雌性小鼠表现出的表型变异性程度高于具有相似突变的人类患者。为了评估XCI是否影响小鼠中Mecp2突变的表型结果,我们在杂合雌性小鼠大脑的单细胞水平上研究了XCI模式。我们发现,在大多数突变雌性小鼠中,XCI模式不均衡,有利于野生型等位基因的表达。值得注意的是,没有一只动物具有偏向突变等位基因的非随机XCI。为了探究为什么XCI模式有利于野生型等位基因的表达,我们研究了来自Mecp2突变小鼠的原代神经元培养物,发现野生型X染色体处于活跃状态的神经元具有选择性存活。定量分析表明,当很大比例的神经元中突变X染色体失活时,观察到的表型较少。对大量携带突变型Mecp2等位基因的雌性小鼠的神经元XCI模式的研究突出了MeCP2对神经元活力的重要性。这些发现还提出了一种可能性,即存在携带突变型MECP2等位基因但未被识别的人类女性,因为她们的表型由于有利的XCI模式而被抑制。