據(jù)6月26日的《科學(xué)》雜志報(bào)道說，影響某種蛋白的基因變異在RNA干擾中扮演著一種關(guān)鍵性的角色,，這些變異與發(fā)生在幼童中的一種罕見形式的肺癌有關(guān),。 最近的被授予諾貝爾獎(jiǎng)的有關(guān)小型非編碼RNA可改變基因表達(dá)（微RNA及小干擾RNA）的發(fā)現(xiàn)已經(jīng)根本改變了該領(lǐng)域的有關(guān)基因表達(dá)是如何被調(diào)節(jié)的觀點(diǎn)。 DICER1是一種核糖核酸酶,，它幫助細(xì)胞產(chǎn)生這些小RNA,。
在一篇Brevium中，D. Ashley Hill及其同僚報(bào)告說,，那些有罹患胸膜肺母細(xì)胞瘤遺傳傾向的家族（這是一種罕見的兒科肺癌,，它是在胎兒肺臟發(fā)育的時(shí)候出現(xiàn)的）攜帶著一份DICER1的變異基因拷貝。 在肺臟發(fā)育的時(shí)候喪失DICER1的功能可能會(huì)改變控制細(xì)胞生長的微RNA依賴性基因調(diào)節(jié),，從而導(dǎo)致腫瘤的形成。（生物谷Bioon.com）
生物谷推薦原始出處：
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.
