据6月26日的《科学》杂志报道说，影响某种蛋白的基因变异在RNA干扰中扮演着一种关键性的角色，这些变异与发生在幼童中的一种罕见形式的肺癌有关。 最近的被授予诺贝尔奖的有关小型非编码RNA可改变基因表达（微RNA及小干扰RNA）的发现已经根本改变了该领域的有关基因表达是如何被调节的观点。 DICER1是一种核糖核酸酶，它帮助细胞产生这些小RNA。
在一篇Brevium中，D. Ashley Hill及其同僚报告说，那些有罹患胸膜肺母细胞瘤遗传倾向的家族（这是一种罕见的儿科肺癌，它是在胎儿肺脏发育的时候出现的）携带着一份DICER1的变异基因拷贝。 在肺脏发育的时候丧失DICER1的功能可能会改变控制细胞生长的微RNA依赖性基因调节，从而导致肿瘤的形成。（生物谷Bioon.com）
生物谷推荐原始出处：
Science June 25, 2009 DOI: 10.1126/science.1174334
DICER1 Mutations in Familial Pleuropulmonary Blastoma
D. Ashley Hill 1*, J. Ivanovich 2, John R. Priest 3, Christina A. Gurnett 2, Louis P. Dehner 2, David Desruisseau 2, Jason A. Jarzembowski 4, Kathryn A. Wikenheiser-Brokamp 5, Brian K. Suarez 2, Alison J. Whelan 2, Gretchen Williams 6, Dawn Bracamontes 1, Yoav Messinger 6, Paul J. Goodfellow 2
1 Washington University Medical Center, St. Louis, MO 63110, USA.; The International Pleuropulmonary Blastoma Registry, Children’s Hospitals and Clinics of Minnesota, Minneapolis, MN 55404, USA.
2 Washington University Medical Center, St. Louis, MO 63110, USA.
3 The International Pleuropulmonary Blastoma Registry, Children’s Hospitals and Clinics of Minnesota, Minneapolis, MN 55404, USA.
4 Children’s Hospital of Wisconsin, Milwaukee, WI 53201, USA.
5 Cincinnati Children’s Hospital Medical Center, Cincinnati, OH 45229, USA.
6 The International Pleuropulmonary Blastoma Registry, Children’s Hospitals and Clinics of Minnesota, Minneapolis, MN 55404, USA.; Children’s Hospitals and Clinics of Minnesota, Minneapolis, MN 55404, USA.
Pleuropulmonary blastoma (PPB) is a rare pediatric lung tumor that is often part of an inherited cancer syndrome. PPBs consist of mesenchymal cells that are susceptible to malignant transformation and cysts lined by epithelial cells. In a subset of patients, overgrowth of the cysts by mesenchymal cells leads to sarcoma formation. Here, we show that 11 multiplex PPB families harbor heterozygous germline mutations in DICER1, a gene encoding an endoribonuclease critical to the generation of small noncoding regulatory RNAs. Expression of DICER1 protein was undetectable in the epithelial component of PPB tumors but was retained in the malignant mesenchyme (sarcoma). We hypothesize that loss of DICER1 in the epithelium of the developing lung alters the regulation of diffusible factors that promote mesenchymal proliferation.
