Maternal effect genes: Update and review of evidence for a link with birth defects.
Maternal effect genes: Update and review of evidence for a link with birth defects.
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DOI：
10.1016/j.xhgg.2021.100067
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发表时间：
2022-01-13
期刊：
影响因子：
--
通讯作者：
Mitchell LE
中科院分区：
文献类型：
--
作者：
Mitchell LE
母体效应基因（MEGs）编码存在于卵母细胞中的因子（如RNA），这些因子是早期胚胎发育所必需的。因此，虽然这些基因和基因产物来自母体，但它们的表型结果来自对胚胎的影响。2000年在小鼠中首次发现了哺乳动物的meg，并与纯合子雌性后代的早期胚胎丢失有关。在人类中，首次发现MEG是在2006年，在经历了一系列不良生殖结果的妇女中，包括葡萄胎、自然流产和死胎。随后发现了80多种哺乳动物meg，其中包括几种与人类表型相关的meg。一般来说，MEG的致病变异或MEG产品的缺乏与一系列不良后果有关，在人类中，从受精卵切割失败到后代患有多位点印记疾病。虽然不太确定，但也有证据表明meg与结构性出生缺陷（如颅面畸形、先天性心脏缺陷）有关。本综述提供了截至2021年初文献中报道的哺乳动物meg的最新摘要，以及meg与结构性出生缺陷之间联系的证据概述。哺乳动物受精卵和早期胚胎的基因组是沉默的。因此，早期发育事件在受精前存在于卵子中的母体因素的控制下。这篇综述提供了一个最新的概述已知的基因编码这些因素在哺乳动物。
Maternal effect genes (MEGs) encode factors (e.g., RNA) that are present in the oocyte and required for early embryonic development. Hence, while these genes and gene products are of maternal origin, their phenotypic consequences result from effects on the embryo. The first mammalian MEGs were identified in the mouse in 2000 and were associated with early embryonic loss in the offspring of homozygous null females. In humans, the first MEG was identified in 2006, in women who had experienced a range of adverse reproductive outcomes, including hydatidiform moles, spontaneous abortions, and stillbirths. Over 80 mammalian MEGs have subsequently been identified, including several that have been associated with phenotypes in humans. In general, pathogenic variants in MEGs or the absence of MEG products are associated with a spectrum of adverse outcomes, which in humans range from zygotic cleavage failure to offspring with multi-locus imprinting disorders. Although less established, there is also evidence that MEGs are associated with structural birth defects (e.g., craniofacial malformations, congenital heart defects). This review provides an updated summary of mammalian MEGs reported in the literature through early 2021, as well as an overview of the evidence for a link between MEGs and structural birth defects. The genome of the mammalian zygote and early embryo is silent. Consequently, early developmental events are under the control of maternal factors that are present in the egg prior to fertilization. This review provides an updated overview of the genes known to encode such factors in mammals.
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