Structural maintenance of chromosomes flexible hinge-domain containing protein 1 (SMCHD1) has emerged as a key regulator of embryonic genome function. Its functions have now extended well beyond the initial findings of effects on X chromosome inactivation associated with lethality in female embryos homozygous for a null allele. Autosomal dominant effects impact stem cell properties as well as postnatal health. Recent studies have revealed that SMCHD1 plays an important role as a maternal effect gene that regulates the master switch of life, namely embryonic genome activation, as well as subsequent preimplantation development and term viability. These discoveries mark SMCHD1 as a major regulator linking developmental processes to adult disorders including a form of muscular dystrophy.

中文翻译：

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SMCHD1在Life's Master Switch及之后的新角色。

染色体结构的柔性铰链域蛋白1（SMCHD1）的结构维护已成为胚胎基因组功能的关键调节器。现在，它的功能已经远远超出了对纯等位基因纯合的女性胚胎中与致死性相关的X染色体失活影响的最初发现。常染色体显性作用影响干细胞特性以及产后健康。最近的研究表明，SMCHD1作为母体效应基因起着重要作用，该基因调节生命的主开关，即胚胎基因组激活，以及随后的植入前发育和长期生存能力。这些发现将SMCHD1标记为将发育过程与成人疾病（包括某种形式的肌营养不良症）联系起来的主要调节剂。