Mechanisms of epigenetic gene silencing caused by the long non-coding Kcnq1ot1 RNA - a key regulator of BWS

人类基因组中的所有基因现在都是已知的，但还不清楚它们在正常发育过程中是如何调控的，在疾病中是如何调控的。果蝇拥有的基因数量与人类的基因数量非常相似，这一事实引发了这样的想法，即基因组中不包含基因的大片区域具有这种调节功能。特别是，基因外的所谓非编码RNA与基因组调控和疾病有关。我们研究了一种特殊的非编码RNA，当它被异常制造时，会导致Beckwith-Wiedemann综合症，在这种综合症中，出生的婴儿非常大，可能会患上癌症。我们的研究将有助于更好地了解这种疾病是如何引起的，因此将帮助有孩子的家庭。

All the genes in the human genome are now known, but it is not known in detail how they are regulated in normal development and misregulated in diseases. The fact that the number of genes a fruitfly has is quite similar to the number of genes of a human, has given rise to the idea that vast areas in the genome that do not contain genes have this regulatory function. In particular so called non-coding RNAs outside of genes have been implicated in genome regulation and disease. We study a particular non-coding RNA which when it is aberrantly made leads to the Beckwith-Wiedemann syndrome in which babies are born that are very large and can develop cancer. Our studies will help to understand better how the disease is caused, and will therefore help the families with children who have the disease.