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

Molecular Genetics and Metabolism

Volumn 67, Issue 3, 1999, Pages 227-235

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

^a CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^b FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

^c NONE

Author keywords

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

Indexed keywords

COMPLEMENTARY DNA; CYTOPLASM PROTEIN; RNA;

ALTERNATIVE RNA SPLICING; ALU SEQUENCE; ANIMAL CELL; ARTICLE; CONTROLLED STUDY; DIGEORGE SYNDROME; DNA SEQUENCE; DNA TRANSCRIPTION; EXON; GENE DELETION; HUMAN; HUMAN CELL; HUMAN TISSUE; IN SITU HYBRIDIZATION; INTRON; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; TANDEM REPEAT;

EID: 0032786952     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.1999.2868     Document Type: Article

References (35)

1. Greenberg F. DiGeorge syndrome: An historical review of clinical and cytogenetic features. J Med Genet. 30:1993;803-806.
2. Conley M E, Beckwith J B, Mancer J FK, Tenckhoff L. The spectrum of the DiGeorge syndrome. J Pediatr. 93:1979;893-890.
3. Driscoll D A, Budarf M L, Emanuel B S. A genetic etiology for DiGeorge syndrome: Consistent deletions and microdeletions of 22q11. Am J Hum Genet. 50:1992;924-933.
4. Levy A, Demczuk S, Aurias A, Depetris D, Mattei M G, Philip N. Interstitial 22q11 deletion excluding the ADU breakpoint in a patient with DGS. Hum Mol Genet. 4:1995;2417-2418.
5. Kurahashi H, Nakayama T, Osugi Y, Tsuda E, Masuno M, Imaizumi K, Kamiya T, Sano T, Okada S, Nishisho I. Deletion mapping of 22q11 in CATCH22 syndrome: Identification of a second critical region. Am J Hum Genet. 58:1996;1377-1381.
6. O'Donnell H, McKeown C, Gould C, Morrow B, Scambler P. Detection of an atypical 22q11 deletion that has no overlap with the DiGeorge syndrome critical region. Am J Hum Genet. 60:1997;1544-1548.
7. Halford S, Wilson D I, Roberts C, Daw S CM, Whiting J A, O'Donnell H, Dunham I, Bentley D, Lindsay E, Baldini A, Francis F, Lehrach H, Williamson R, Wilson D I, Goodship J, Cross I, Burn J, Scambler P J. Isolation of a putative transcriptional regulator from region 22q11 deleted in DiGeorge syndrome, Shprintzen syndrome and familial heart disease. Hum Mol Genet. 2:1993;2099-2107.
8. Pizzuti A, Novelli G, Ratti A, Amati F, Mari A, Calabrese G, Nicolis S, Silani V, Marino B, Scarlato G, Ottolenghi S, Dallapiccola B. UFDIL, a developmentally expressed ubiquitination gene, is deleted in CATCH 22 syndrome. Hum Mol Genet. 6:1997;259-265.
9. Gottlieb S, Emanuel B S, Driscoll D A, Sellinger B, Wang Z, Roe B, Budarf M L. The DiGeorge syndrome minimal critical region contains a goosecoid-like (GSCL) homeobox gene that is expressed early in human development. Am J Hum Genet. 60:1997;1194-1201.
10. McKie J M, Wadey R D, Sutherland H F, Taylor C L, Scambler P J. Direct selection of conserved cDNAs from the DiGeorge critical region: Isolation of a novel CDC45-like gene. Genome Res. 8:1998;834-841.
11. Gong W, Emanuel B S, Collins J, Kim D H, Wang Z, Chen F, Zhang G, Roe B, Budarf M L. A transcription map of the DiGeorge and velo-cardio-facial syndrome minimal critical region on 22q11. Hum Mol Genet. 5:1996;789-800.
12. Galili N, Baldwin H S, Lund J, Reeves R, Gong W, Wang Z, Roe B A, Emanuel B S, Nayak S, Mickanin C, Budarf M L, Buck C A. A region of mouse chromosome 16 is syntenic to the DiGeorge, velocardiofacial syndrome minimal critical region. Genome Res. 7:1997;17-26.
13. Puech A, Saint-Jore B, Funke B, Gilbert D J, Sirotkin H, Copeland N G, Jenkins N A, Kucherlapati R, Morrow B, Skoultchi A I. Comparative mapping of the human 22q11 chromosomal region and the orthologous region in mice reveals complex changes in gene organization. Proc Natl Acad Sci USA. 94:1997;14608-14613.
14. Goldmuntz E, Emanuel B S. Genetic disorders of cardiac morphogenesis. The DiGeorge and velocardiofacial syndromes. Circ Res. 80:1997;437-443.
15. Yamagishi H, Garg V, Matsuoka R, Thomas T, Srivastava D. A molecular pathway revealing a genetic basis for human cardiac and craniofacial defects. Science. 283:1999;1158-1161.
16. Sutherland H F, Wadey R, McKie J M, Taylor C, Atif U, Johnstone K A, Halford S, Kim U J, Goodship J, Baldini A, Scambler P J. Identification of a novel transcript disrupted by a balanced translocation associated with DiGeorge syndrome. Am J Hum Genet. 59:1996;23-31.
17. Dallapiccola B, Pizzuti A, Novelli G. How many breaks do we need to CATCH on 22q11. Am J Hum Genet. 59:1996;7-11.
18. Augusseau S, Jouk J, Jalbert P, Prieur M. DiGeorge syndrome and 22q11 rearrangements. Hum Genet. 74:1986;206.
19. Pizzuti A, Novelli G, Mari A, Ratti A, Colosimo A, Amati F, Penso D, Sangiuolo F, Calabrese G, Palka G, Silani V, Gennarelli M, Mingarelli R, Scarlato G, Scambler P, Dallapiccola B. Human homolog sequences to the Drososophila dishevelled polarity gene are deleted in the DiGeorge syndrome. Am J Hum Genet. 58:1996;722-729.
20. Walker J, de Melo Neto O, Standart N. Gel retardation and UV-crosslinking assays to detect specific RNA-protein interactions in the 5′ or 3′ UTRs of translationally regulated mRNAs. Methods Mol Biol. 77:1998;365-378.
21. Dignam J D, Lebowitz R M, Roeder R G. Accurate transcription initiation by RNA polymerase II in a soluble extract from isolated mammalian nuclei. Nucleic Acids Res. 11:1983;1475-1489.
22. Morrow B, Goldberg R, Carlson C, Das Gupta R, Sirotkin H, Collins J, Dunham I, O'Donnell H, Scambler P, Shprintzen R, Kucherlapati R. Molecular definition of the 22q11 deletions in velo-cardio-facial syndrome. Am J Hum Genet. 56:1995;1391-1403.
23. Mount S M. A catalogue of splice junction sequences. Nucleic Acids Res. 10:1982;459-472.
24. Hall S L, Padgett R A. Requirement of U12 snRNA for in vivo splicing of a minor class of eukaryotic nuclear pre-mRNA introns. Science. 271:1996;1716-1718.
25. Tarn W Y, Steitz J A. A novel spliceosome containing U11, U12 and U5 snRNPs excises a minor class (AT_AC) intron in vitro. Cell. 84:1996;801-811.
26. Farrell M J, Stadt H, Wallis K T, Scambler P, Hixon R L, Wolfe R, Leatherbury L, Kirby M L. HIRA, a DiGeorge syndrome candidate gene, is required for cardiac outflow tract septation. Circ Res. 84:1999;127-135.
27. Brown C J, Ballabio A, Rupert J L, Lafreniere R G, Grompe M, Tonlorenzi R, Willard H F. A gene from the region of the human X inactivation centre is expressed exclusively from the inactive X chromosome. Nature. 349:1991;38-44.
28. Brannan C I, Dees E C, Ingram R S, Tilghman S M. The product of the H19 gene may function as an RNA. Mol Cell Biol. 10:1990;28-36.
29. + T cells. Genomics. 39:1997;171-184.
30. Tam W, Ben-Yehuda D, Hayward W S. bic, a novel gene activated by proviral insertions in avian leukosis virus-induced lymphomas, is likely to function through its noncoding RNA. Mol Cell Biol. 17:1997;1490-1502.
31. Walter P, Johnson A E. Signal sequence recognition and protein targeting to the endoplasmic reticulum membrane. Ann Rev Cell Biol. 10:1994;87-119.
32. Vu T H, Hoffman A R. Imprinting of the Angelman syndrome gene UBE3A, is restricted to brain. Nature Genet. 17:1997;12-13.
33. Rougeulle C, Glatt H, Lalande M. The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in brain. Nature Genet. 17:1997;14-15.
34. Budarf M L, Collins J, Gong W, Roe B, Wang Z, Bailey L C, Sellinger B, Michaud D, Driscoll D A, Emanuel B S. Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate gene. Nature Genet. 10:1995;269-278.
35. McNaughton J C, Cockburn D J, Hughes G, Jones W A, Laing N G, Ray P N, Stockwell P A, Petersen G B. Is gene deletion in eukaryotes sequence-dependent? A study of nine deletion junctions and nineteen other deletion breakpoints in intron 7 of the human dystrophin gene. Gene. 222:1998;41-51.