Isolation and characterization of a novel transcript embedded within HIRA, a gene deleted in DiGeorge syndrome

Antonio Pizzuti, Giuseppe Novelli, Antonia Ratti, Francesca Amati, Roberta Bordoni, Paola Mandich, Emilia Bellone, Emanuela Conti, Mario Bengala, Aldo Mari, Vincenzo Silani, Bruno Dallapiccola

Research output: Contribution to journalArticle


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, CA(n)) 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.

Original languageEnglish
Pages (from-to)227-235
Number of pages9
JournalMolecular Genetics and Metabolism
Issue number3
Publication statusPublished - Jul 1999



  • Chromosome 22
  • DiGeorge syndrome
  • HIRA
  • Intronic transcript
  • RNA

ASJC Scopus subject areas

  • Biochemistry
  • Genetics
  • Endocrinology, Diabetes and Metabolism

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