Molecular cloning and expression analysis of a novel gene DGCR8 located in the DiGeorge syndrome chromosomal region.
Molecular cloning and expression analysis of a novel gene DGCR8 located in the DiGeorge syndrome chromosomal region.
复制标题
DOI：
10.1016/s0006-291x(03)00554-0
复制
发表时间：
2003-04
影响因子：
3.1
通讯作者：
A. Shiohama;Takashi Sasaki;S. Noda;S. Minoshima;N. Shimizu
中科院分区：
文献类型：
--
作者：
A. Shiohama;Takashi Sasaki;S. Noda;S. Minoshima;N. Shimizu
我们从人类染色体22q11.2中鉴定并克隆了一个新基因（DGCR 8）。该基因位于DiGeorge综合征染色体区域（DGCR）。该基因由14个外显子组成，全长35 kb，转录产物的开放阅读框长2322 bp，编码773个氨基酸。我们还分离了小鼠直系同源物DGCR 8，发现它与人DGCR 8在氨基酸序列水平上具有95.3%的同一性。成人和胎儿的人和小鼠组织的北方印迹分析显示相当普遍的表达。然而，小鼠胚胎的原位杂交显示，小鼠Dgcr 8转录本定位于神经上皮细胞的初级大脑，肢芽，血管，胸腺，和周围的腭在胚胎发育阶段。Dgcr 8在发育中的小鼠胚胎中的表达谱与包括先天性心脏缺陷和与DiGeorge综合征（DGS）/圆锥动脉干异常面部综合征（CAFS）/腭心面综合征（VCFS）相关的腭裂的临床表型一致，其由染色体22q11.2的单等位基因微缺失引起。
We have identified and cloned a novel gene (DGCR8) from the human chromosome 22q11.2. This gene is located in the DiGeorge syndrome chromosomal region (DGCR). It consists of 14 exons spanning over 35kb and produces transcripts with ORF of 2322bp, encoding a protein of 773 amino acids. We also isolated a mouse ortholog Dgcr8 and found it has 95.3% identity with human DGCR8 at the amino acid sequence level. Northern blot analysis of human and mouse tissues from adult and fetus showed rather ubiquitous expression. However, the in situ hybridization of mouse embryos revealed that mouse Dgcr8 transcripts are localized in neuroepithelium of primary brain, limb bud, vessels, thymus, and around the palate during the developmental stages of embryos. The expression profile of Dgcr8 in developing mouse embryos is consistent with the clinical phenotypes including congenital heart defects and palate clefts associated with DiGeorge syndrome (DGS)/conotruncal anomaly face syndrome (CAFS)/velocardiofacial syndrome (VCFS), which are caused by monoallelic microdeletion of chromosome 22q11.2.