William's syndrome: gene expression is related to parental origin and regional coordinate control.
William's syndrome: gene expression is related to parental origin and regional coordinate control.
复制标题
DOI：
10.1038/jhg.2009.5
复制
发表时间：
2009-04
影响因子：
3.5
通讯作者：
中科院分区：
文献类型：
--
作者：
威廉综合征（WS）的特征是一系列神经认知和行为异常，这是由于染色体7q11.23上罕见的1.5MB缺失，包括约24-28个基因。从单个正常拷贝中研究这些基因的表达为阐明这些基因的遗传和表观遗传控制以及它们在WS和正常脑发育和功能中的作用提供了机会。我们采用定量RT-PCR方法测定了77例WS患者和48例正常对照组中14个WS基因标记物的转录水平。此处报告的结果：（1）表明在WS中缺失的基因的表达在一些但不是所有情况下降低，（2）证明缺失的亲本来源有助于GTF 2 I的表达水平，与年龄和性别无关，和（3）表明GTF 2 I和WS区域中的一些其它基因之间的表达相关性在WS受试者和正常对照中不同，这反过来又指向了这个基因的调节作用。物种间的比较表明，GTF 2 I可能在正常的大脑发育中发挥关键作用。
William's syndrome (WS) features a spectrum of neurocognitive and behavioral abnormalities due to a rare 1.5MB deletion that includes about 24–28 genes on chromosome band 7q11.23. Study of the expression of these genes from the single normal copy provides an opportunity to elucidate the genetic and epigenetic controls on these genes as well as their roles in both WS and normal brain development and function. We used quantitative RT-PCR to determine the transcriptional level of 14 WS gene markers in a cohort of 77 persons with WS and 48 normal controls. Results reported here: (1) show that the expression of the genes deleted in WS is decreased in some but not all cases, (2) demonstrate that the parental origin of the deletion contributes to the level of expression of GTF2I independently of age and gender and (3) indicate that the correlation of expression between GTF2I and some other genes in the WS region differs in WS subjects and normal controls, which in turn points toward a regulatory role for this gene. Interspecies comparisons suggest GTF2I may play a key role in normal brain development.
登录
查看更多内容
影响因子：
3.3
作者：
Danoff, SK;Taylor, HE;Desiderio, S
通讯作者：
Desiderio, S
影响因子：
6.1
作者：
van Hagen, J. M.;van der Geest, J. N.;De Zeeuw, C. I.
通讯作者：
De Zeeuw, C. I.
影响因子：
3.3
作者：
Chen, Ji;Blackwell, Thomas W.;States, David J.
通讯作者：
States, David J.
影响因子：
4
作者：
Howald, C;Merla, G;Reymond, A
通讯作者：
Reymond, A
影响因子：
64.8
作者：
Hillier, LW;Fulton, RS;Wilson, RK
通讯作者：
Wilson, RK