DNMT1 and AIM1 Imprinting in human placenta revealed through a genome-wide screen for allele-specific DNA methylation.
DNMT1 and AIM1 Imprinting in human placenta revealed through a genome-wide screen for allele-specific DNA methylation.
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DOI：
10.1186/1471-2164-14-685
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发表时间：
2013-10-05
期刊：
影响因子：
4.4
通讯作者：
Ding C
中科院分区：
文献类型：
--
作者：
Das R;Lee YK;Strogantsev R;Jin S;Lim YC;Ng PY;Lin XM;Chng K;Yeo GSh;Ferguson-Smith AC;Ding C
基因组印迹是一种表观遗传调控的过程，其中基因以亲本来源的特定方式表达。许多印记基因最初是在老鼠身上发现的，其中一些后来被证明不会在人类身上印记。这种差异反映了小鼠和人类组织在发育、形态和生理上的差异。这与胎盘特别相关。因此，基因组印迹的研究需要以物种和发育阶段特有的方式进行。我们在这里描述了一种新的策略来研究人类胎盘中的等位基因特异性DNA甲基化，以发现新的印记基因。使用这种方法，我们确认了16个与已知印记基因相关的差异甲基化区域(DMR)。我们选择了28个基因组区域进行进一步的检测，并鉴定了两个印记基因(DNMT1和AIM1)。这两个基因都表现出母亲特有的等位基因甲基化和父亲特有的等位基因转录。AIM1的印迹表达在食蟹猴胎盘中保守，但在其他猕猴组织和小鼠中不表达。我们的研究表明，虽然在胎盘等组织中存在许多具有等位基因特异性甲基化的基因组区域，但只有一小部分基因组区域与等位基因特异性转录相关，这表明这些基因组区域具有替代功能。尽管如此，新的组织特异性印迹基因仍有待在人类身上发现。它们的识别可能有助于我们更好地了解胚胎和胎儿的发育。
Genomic imprinting is an epigenetically regulated process wherein genes are expressed in a parent-of-origin specific manner. Many imprinted genes were initially identified in mice; some of these were subsequently shown not to be imprinted in humans. Such discrepancy reflects developmental, morphological and physiological differences between mouse and human tissues. This is particularly relevant for the placenta. Study of genomic imprinting thus needs to be carried out in a species and developmental stage-specific manner. We describe here a new strategy to study allele-specific DNA methylation in the human placenta for the discovery of novel imprinted genes. Using this methodology, we confirmed 16 differentially methylated regions (DMRs) associated with known imprinted genes. We chose 28 genomic regions for further testing and identified two imprinted genes (DNMT1 and AIM1). Both genes showed maternal allele-specific methylation and paternal allele-specific transcription. Imprinted expression for AIM1 was conserved in the cynomolgus macaque placenta, but not in other macaque tissues or in the mouse. Our study indicates that while there are many genomic regions with allele-specific methylation in tissues like the placenta, only a small sub-set of them are associated with allele-specific transcription, suggesting alternative functions for such genomic regions. Nonetheless, novel tissue-specific imprinted genes remain to be discovered in humans. Their identification may help us better understand embryonic and fetal development.
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通过RNA-Seq对印迹基因表达的批判性评估：一种新的观点。
影响因子：
4.5
作者：
DeVeale B;van der Kooy D;Babak T
通讯作者：
Babak T
影响因子：
3.7
作者：
Barbaux S;Gascoin-Lachambre G;Buffat C;Monnier P;Mondon F;Tonanny MB;Pinard A;Auer J;Bessières B;Barlier A;Jacques S;Simeoni U;Dandolo L;Letourneur F;Jammes H;Vaiman D
通讯作者：
Vaiman D
影响因子：
--
作者：
Fowden, AL;Sibley, C;Constancial, M
通讯作者：
Constancial, M
影响因子：
4.4
作者：
Evans, HK;Wylie, AA;Jirtle, RL
通讯作者：
Jirtle, RL
影响因子：
5.3
作者：
Brideau, Chelsea M.;Eilertson, Kirsten E.;Soloway, Paul D.
通讯作者：
Soloway, Paul D.