title: Molecular cloning and expression analysis of a novel gene DGCR8 located in the DiGeorge syndrome chromosomal region.
abstract: 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.
authors.affiliation: Department of Molecular Biology, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, 160-8582, Tokyo, Japan.
authors.forename: Aiko
authors.initials: A
authors.lastname: Shiohama
authors.forename: Takashi
authors.initials: T
authors.lastname: Sasaki
authors.forename: Setsuko
authors.initials: S
authors.lastname: Noda
authors.forename: Shinsei
authors.initials: S
authors.lastname: Minoshima
authors.forename: Nobuyoshi
authors.initials: N
authors.lastname: Shimizu
mesh_terms: D020816:Amino Acid Motifs; D000818:Animals; D001483:Base Sequence; D002874:Chromosome Mapping; D002892:Chromosomes, Human, Pair 22; D003001:Cloning, Molecular; D018076:DNA, Complementary; D004062:DiGeorge Syndrome / Q000235:genetics; D004622:Embryo, Mammalian / Q000378:metabolism; D006801:Humans; D051379:Mice; D008969:Molecular Sequence Data; D011506:Proteins; D012333:RNA, Messenger / Q000096:biosynthesis; D016601:RNA-Binding Proteins; D014018:Tissue Distribution; D014158:Transcription, Genetic
chemical_list: C474043:DGCR8 protein, human; D018076:DNA, Complementary; C474044:Dgcr8 protein, mouse; D011506:Proteins; D012333:RNA, Messenger; D016601:RNA-Binding Proteins