Elevated placental expression of the imprinted PHLDA2 gene is associated with low birth weight
Elevated placental expression of the imprinted PHLDA2 gene is associated with low birth weight
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DOI：
10.1007/s00109-006-0131-8
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发表时间：
2007-04-01
影响因子：
4.7
通讯作者：
Moore, G. F.
中科院分区：
文献类型：
--
作者：
Apostolidou, S.;Abu-Amero, S.;Moore, G. F.
鉴定调控胎儿生长的基因将有助于确定宫内生长受限的原因。大多数常染色体基因是双等位基因表达的，但有些是印记的，只从一个亲本等位基因表达。印记基因与胎儿的生长发育有关。胎儿在子宫内的生长依赖于通过胎盘从母亲向胎儿有效的营养转移。目前一些关于胎儿生长的遗传控制的研究集中在子宫内显示印记表达的基因上。4个印迹基因的表达水平，即父系表达的胰岛素生长因子2（-IGF 2）、中突蛋白特异性转录本异构体1（MES 7）、母系表达的普列克底物蛋白同源样结构域，家族A，成员2（PHLDA 2）;和多形印迹胰岛素样生长因子2（IGF 2 R）基因都已知在胎儿生长中起作用，并在200个白色欧洲正常足月婴儿的胎盘中进行了研究。实时PCR定量表达分析显示，母体表达PHLDA 2，但不是父亲表达IGF 2和MEST，也不是多态性母体表达IGF 2 R胎盘水平对出生体重有统计学显著影响。PHLDA 2表达水平与出生时的大小呈负相关。这些数据暗示PHLDA 2作为一个印记基因在胎儿生长中的重要性，也作为一个潜在的标记胎儿生长。
The identification of genes that regulate fetal growth will help establish the reasons for intrauterine growth restriction. Most autosomal genes are expressed biallelically, but some are imprinted, expressed only from one parental allele. Imprinted genes are associated with fetal growth and development. The growth of the fetus in utero relies on effective nutrient transfer from the mother to the fetus via the placenta. Some current research on the genetic control of fetal growth has focused on genes that display imprinted expression in utero. The expression levels of four imprinted genes, the paternally expressed insulin growth factor 2 (-IGF2), the mesoden-n-specific transcript isoform 1 (MES7); the maternally expressed pleckstrin homology-like domain, family A, member 2 (PHLDA2); and the polymorphically imprinted insulin-like growth factor 2 (IGF2R) gene are all known to have roles in fetal growth and were studied in the placentae of 200 white European, normal term babies. The quantitative expression analysis with real-time PCR showed the maternally expressing PHLDA2 but not the paternally expressing IGF2 and MEST, nor the polymorphic maternally expressing IGF2R placental levels to have a statistically significant effect on birth weight. PHLDA2 expression levels are negatively correlated with size at birth. These data implicate PHLDA2 as an imprinted gene important in fetal growth and also as a potential marker of fetal growth.