title: Isolation and characterization of a novel transcript embedded within HIRA, a gene deleted in DiGeorge syndrome.
abstract: We have isolated a few cDNAs from different human tissues, transcribed from the first intron of HIRA, a gene deleted in the DiGeorge syndrome. These cDNAs are produced by an intronic gene (22k48) which is transcribed by the HIRA opposite strand and is itself arranged in exons and subjected to alternative splicing. The longest continuum cDNA sequence we obtained is 3.6 kb long and contains 3 different exons and 2 introns. 22k48 cDNA is composed of several tandemly arranged repeated elements (Alu, LINEs, CAn) surrounding a unique sequence. In situ hybridization showed the presence of 22k48 RNA in the cytoplasm of CNS and PNS neurons. 22k48 RNA is able to bind cytoplasmic proteins in the range of 45 to 60 kDa. 22k48 is a new member of the small group of genes that are transcribed but not translated, and its haploinsufficiency could contribute to the pathogenesis of the DiGeorge syndrome.
authors.affiliation: Istituto di Neurologia, Università di Milano, Milan, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Pizzuti
authors.forename: G
authors.initials: G
authors.lastname: Novelli
authors.forename: A
authors.initials: A
authors.lastname: Ratti
authors.forename: F
authors.initials: F
authors.lastname: Amati
authors.forename: R
authors.initials: R
authors.lastname: Bordoni
authors.forename: P
authors.initials: P
authors.lastname: Mandich
authors.forename: E
authors.initials: E
authors.lastname: Bellone
authors.forename: E
authors.initials: E
authors.lastname: Conti
authors.forename: M
authors.initials: M
authors.lastname: Bengala
authors.forename: A
authors.initials: A
authors.lastname: Mari
authors.forename: V
authors.initials: V
authors.lastname: Silani
authors.forename: B
authors.initials: B
authors.lastname: Dallapiccola
mesh_terms: D000328:Adult; D017398:Alternative Splicing; D015152:Blotting, Northern; D018797:Cell Cycle Proteins; D018244:Chromosomes, Artificial, Yeast; D002892:Chromosomes, Human, Pair 22; D003001:Cloning, Molecular; D003593:Cytoplasm / Q000378:metabolism; D018076:DNA, Complementary; D004062:DiGeorge Syndrome / Q000235:genetics*; D005260:Female; D056488:Histone Chaperones; D006801:Humans; D017403:In Situ Hybridization; D007438:Introns; D018895:Microsatellite Repeats; D009474:Neurons / Q000378:metabolism; D009687:Nuclear Proteins / Q000235:genetics*; D011247:Pregnancy; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism*; D016601:RNA-Binding Proteins / Q000378:metabolism; D014157:Transcription Factors / Q000235:genetics*; D014158:Transcription, Genetic
chemical_list: D018797:Cell Cycle Proteins; D018076:DNA, Complementary; C086057:HIRA protein, human; D056488:Histone Chaperones; D009687:Nuclear Proteins; D012333:RNA, Messenger; D016601:RNA-Binding Proteins; D014157:Transcription Factors