Molecular cloning and expression analysis of a novel gene DGCR8 located in the DiGeorge syndrome chromosomal region

Aiko Shiohama, Takashi Sasaki, Setsuko Noda, Shinsei Minoshima, Nobuyoshi Shimizu

研究成果: Article査読

107 被引用数 (Scopus)

抄録

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.

本文言語English
ページ(範囲)184-190
ページ数7
ジャーナルBiochemical and Biophysical Research Communications
304
1
DOI
出版ステータスPublished - 2003 4 25

ASJC Scopus subject areas

  • 生物理学
  • 生化学
  • 分子生物学
  • 細胞生物学

フィンガープリント

「Molecular cloning and expression analysis of a novel gene DGCR8 located in the DiGeorge syndrome chromosomal region」の研究トピックを掘り下げます。これらがまとまってユニークなフィンガープリントを構成します。

引用スタイル