On the Molecular Etiology of Cornelia de Lange Syndrome
On the Molecular Etiology of Cornelia de Lange Syndrome
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DOI：
10.1111/j.1749-6632.2008.03450.x
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发表时间：
2009-01-01
期刊：
影响因子：
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通讯作者：
Krantz, Ian D.
中科院分区：
文献类型：
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作者：
Dorsett, Dale;Krantz, Ian D.
科尔内利亚德兰格综合征（CdLS）是遗传异质性的，通常是散发性的，发生率约为每10,000例分娩。CdLS个体在生长、智力发育、四肢和器官方面表现出多种多样的缺陷。在过去的几年中，它已被证明，CdLS是由基因突变影响蛋白质参与姐妹染色单体凝聚力。在模式生物中的研究，以及最近在人类细胞中的研究，有些出乎意料地揭示了CdLS的发育缺陷可能是由基因表达的变化引起的。内聚因子调节基因表达的机制仍有待阐明，但目前的数据表明，它们可能以多种方式调节转录。
Cornelia de Lange syndrome (CdLS) is genetically heterogeneous and is usually sporadic, occurring approximately once per 10,000 births. CdLS individuals display diverse and variable deficits in growth, mental development, limbs, and organs. In the past few years it has been shown that CdLS is caused by gene mutations affecting proteins involved in sister chromatid cohesion. Studies in model organisms, and more recently in human cells, have revealed, somewhat unexpectedly, that the developmental deficits in CdLS likely arise from changes in gene expression. The mechanisms by which cohesion factors regulate gene expression remain to be elucidated, but current data suggest that they likely regulate transcription in multiple ways.