New TFII-I family target genes involved in embryonic development.
New TFII-I family target genes involved in embryonic development.
复制标题
DOI：
10.1016/j.bbrc.2009.06.045
复制
发表时间：
2009-09-04
影响因子：
3.1
通讯作者：
Bayarsaihan, Dashzeveg
中科院分区：
文献类型：
--
作者：
Makeyev, Aleksandr V.;Bayarsaihan, Dashzeveg
TFII-I家族转录因子基因的两个成员GTF 2 I和GTF 2 IRD 1是导致威廉姆斯综合征患者颅面和认知异常的主要候选基因。我们先前已经产生了具有Gtf 2 ird 1和Gtf 2 i的靶向破坏的小鼠系。微阵列分析显示突变胚胎的表达谱发生了显着变化。在这里，我们描述了三个未知的基因，显着下调突变体。2410018 M08 Rik/Scand 3基因编码一种具有CHCH和hATC结构域的未知功能蛋白。Scand 3在小鼠胚胎干细胞（ES）分化过程中下调。4933436 H12 Rik是一个睾丸特异性基因，它编码一种没有已知结构域的蛋白质。它在小鼠ES细胞中表达。1110008 P08 Rik/Kbtbd 7编码具有BTB/POZ、BACK和Kelch基序的衔接子蛋白，先前显示将底物募集到组蛋白修饰或E3泛素连接酶活性的酶复合物。基于表达模式，Kbtbd 7可能在大脑发育和功能中具有特定作用。所有这三个基因具有良好的保守TFII-I结合的共识网站内的近端启动子。因此，我们的分析表明，这些基因可能是TFII-I蛋白的直接靶点，并且由于GTF 2 I和GTF 2 IRD 1单倍不足，它们的表达受损可能导致威廉姆斯综合征的病因。
Two members of the TFII-I family transcription factor genes, GTF2I and GTF2IRD1, are the prime candidates responsible for the craniofacial and cognitive abnormalities of Williams syndrome patients. We have previously generated mouse lines with targeted disruption of Gtf2ird1 and Gtf2i. Microarray analysis revealed significant changes in the expression profile of mutant embryos. Here we described three unknown genes that were dramatically down-regulated in mutants. The 2410018M08Rik/Scand3 gene encodes a protein of unknown function with CHCH and hATC domains. Scand3 is downregulated during mouse embryonic stem cell (ES) differentiation. 4933436H12Rik is a testis-specific gene, which encodes a protein with no known domains. It is expressed in mouse ES cells. 1110008P08Rik/Kbtbd7 encodes an adapter protein with BTB/POZ, BACK and Kelch motifs, previously shown to recruit substrates to the enzymatic complexes of the histone modifying or E3 ubiquitin ligase activities. Based on the expression pattern Kbtbd7 may have a specific role in brain development and functioning. All three genes possess well-conserved TFII-I-binding consensus sites within proximal promoters. Therefore our analysis suggests that these genes can be direct targets of TFII-I proteins and their impaired expression, as a result of the GTF2I and GTF2IRD1 haploinsufficiency, could contribute to the etiology of Williams syndrome.
登录
查看更多内容
影响因子：
4
作者：
Hess, J;Angel, P;Schorpp-Kistner, M
通讯作者：
Schorpp-Kistner, M
DNA变异和脑区域特异性表达谱图在近交小鼠菌株之间表现出不同的关系：对EQTL映射研究的影响。
影响因子：
12.3
作者：
Hovatta, Iiris;Zapala, Matthew A.;Broide, Ron S.;Schadt, Eric E.;Libiger, Ondrej;Schork, Nicholas J.;Lockhart, David J.;Barlow, Carrolee
通讯作者：
Barlow, Carrolee
DOI：
10.1668/0003-1569(2001)041
发表时间：
2001-04-01
期刊：
AMERICAN ZOOLOGIST
影响因子：
--
作者：
Kramer, DL;McLaughlin, RL
通讯作者：
McLaughlin, RL
影响因子：
13.8
作者：
Stogios, PJ;Privé, GG
通讯作者：
Privé, GG
影响因子：
12.3
作者：
Stogios, Peter J;Downs, Gregory S;Jauhal, Jimmy J S;Nandra, Sukhjeen K;Prive, Gilbert G
通讯作者：
Prive, Gilbert G