A chicken model for DGCR6 as a modifier gene in the DiGeorge critical region

Pediatric Research

Volumn 56, Issue 3, 2004, Pages 440-448

  Hierck, Beerend P ^a   Molin, Daniël G M ^a   Boot, Marit J ^a   Poelmann, Robert E ^a   Gittenberger De Groot, Adriana C ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

RETROVIRUS VECTOR;

ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BRANCHIAL ARCH; CARDIOVASCULAR MALFORMATION; CELL MIGRATION; CELL TYPE; CHROMOSOME 22; CONTROLLED STUDY; DGCR6 GENE; DIGEORGE SYNDROME; DNA MODIFICATION; EMBRYO; EMBRYO DEVELOPMENT; GENE; GENE EXPRESSION; GENE LOCATION; GENETIC TRANSDUCTION; HIRA GENE; IN VIVO STUDY; NEURAL CREST CELL; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; TBX 1 GENE; UFD1L GENE;

EID: 4344614394     PISSN: 00313998     EISSN: None     Source Type: Journal    
DOI: 10.1203/01.PDR.0000136151.50127.1C     Document Type: Article

References (52)

1. Goldmuntz E, Emanuel BS 1997 Genetic disorders of cardiac morphogenesis. The DiGeorge and velocardiofacial syndromes. Circ Res 80:437-443
2. Erickson CA, Reedy MV 1998 Neural crest development: the interplay between morphogenesis and cell differentiation. Curr Top Dev Biol 40:177-209
3. Poelmann RE, Mikawa T, Gittenberger-de Groot AC 1998 Neural crest cells in outflow tract septation of the embryonic chicken heart: differentiation and apoptosis. Dev Dyn 212:373-384
4. Noden DM, Poelmann RE, Gittenberger-de Groot AC 1995 Cell origins and tissue boundaries during outflow tract development. Trends Cardiovasc Med 5:69-75
5. Bergwerff M, Verberne ME, DeRuiter MC, Poelmann RE, Gittenberger-de Groot AC 1998 Neural crest cell contribution to the developing circulatory system: implications for vascular morphology? Circ Res 82:221-231
6. Kirby ML 1993 Cellular and molecular contributions of the cardiac neural crest to cardiovascular development. Trends Cardiovasc Med 3:18-23
7. Poelmann RE, Gittenberger-de Groot AC 1999 A subpopulation of apoptosis-prone cardiac neural crest cells targets to the venous pole: multiple functions in heart development? Dev Biol 207:271-286
8. Momma K, Matsuoka R, Takao A 1999 Aortic arch anomalies associated with chromosome 22q11 deletion (CATCH 22). Pediatr Cardiol 20:97-102
9. Gittenberger-de Groot AC, Poelmann RE, Bartelings MM 1997 Embryology of congenital heart disease. In: Braunwald E, Freedom R (eds) Congenital Heart Disease. Current Medicine, Philadelphia, pp 3.1-3.10
10. Kurahashi H, Shaikh TH, Hu P, Roe BA, Emanuel BS, Budarf ML 2000 Regions of genomic instability on 22q11 and 11q23 as the etiology for the recurrent constitutional t(11;22). Hum Mol Genet 9:1665-1670
11. Shaikh TH, Kurahashi H, Saitta SC, O'Hare AM, Hu P, Roe BA, Driscoll DA, McDonald-McGinn DM, Zackai EH, Budarf ML, Emanuel BS 2000 Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis. Hum Mol Genet 9:489-501
12. Llevadot R, Scambler P, Estivill X, Pritchard M 1996 Genomic organization of tuple 1/hira: a gene implicated in DiGeorge syndrome. Mamm Genome 7:911-914
13. Yamagishi H, Garg V, Matsuoka R, Thomas T, Srivastava D 1999 A molecular pathway revealing a genetic basis for human cardiac and craniofacial defects. Science 283:1158-1161
14. Yamagishi C, Hierck BP, Gittenberger-de Groot AC, Yamagishi H, Srivastava D 2003 Functional attenuation of Ufd1L, a 22q11.2 deletion syndrome candidate gene, leads to cardiac outflow septation defects in chicken embryos. Pediatr Res 53:546-553
15. Guris DL, Fantes J, Tara D, Druker BJ, Imamoto A 2001 Mice lacking the homologue of the human 22q11.2 gene CRKL phenocopy neurocristopathies of DiGeorge syndrome. Nat Genet 27:293-298
16. Merscher S, Funke B, Epstein JA, Heyer J, Puech A, Lu MM, Xavier RJ, Demay MB, Russell RG, Factor S, Tokooya K, Jore BS, Lopez M, Pandita RK, Lia M, Carrion D, Xu H, Schorle H, Kobler JB, Scambler P, Wynshaw-Boris A, Skoultchi AI, Morrow BE, Kucherlapati R 2001 TBX1 is responsible for cardiovascular defects in velocardio-facial/DiGeorge syndrome. Cell 104:619-629
17. Jerome LA, Papaioannou VE 2001 DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1. Nat Genet 27:286-291
18. Lindsay EA, Vitelli F, Su H, Morishima M, Huynh T, Pramparo T, Jurecic V, Ogunrinu G, Sutherland HF, Scambler PJ, Bradley A, Baldini A 2001 Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice. Nature 410:97-101
19. McQuade L, Christodoulou J, Budarf M, Sachdev R, Wilson M, Emanuel B, Colley A 1999 Patient with a 22q11.2 deletion with no overlap of the minimal DiGeorge syndrome critical region (MDGCR). Am J Med Genet 86:27-33
20. Yamagishi H, Maeda J, Hu T, McAnally J, Conway SJ, Kume T, Meyers EN, Yamagishi C, Srivastava D 2003 Tbx1 is regulated by tissue-specific forkhead proteins through a common Sonic hedgehog-responsive enhancer. Genes Dev 17:269-281
21. Stalmans I, Lambrechts D, De Smet F, Jansen S, Wang J, Maity S, Kneer P, von der Ohe M, Swillen A, Maes C, Gewillig M, Molin DG, Hellings P, Boetel T, Haardt M, Compernolle V, Dewerchin M, Plaisance S, Vlietinck R, Emanuel B, Gittenberger-de Groot AC, Esguerra CV, Scambler P, Morrow B, Driscoll DA, Moons L, Esguerra CV, Carmeliet G, Behn-Krappa A, DeVviendt K, Collen D, Conway SJ, Carmeliet P 2003 VEGF: a modifier of the del22q11 (DiGeorge) syndrome? Nat Med 9:173-182
22. Abu-Issa R, Smyth G, Smoak I, Yamamura K, Meyers EN 2002 Fgf8 is required for pharyngeal arch and cardiovascular development in the mouse. Development 129:4613-4625
23. Frank DU, Fotheringham LK, Brewer JA, Muglia LJ, Tristani-Firouzi M, Capecchi MR, Moon AM 2002 An Fgf8 mouse mutant phenocopies human 22q11 deletion syndrome. Development 129:4591-4603
24. Vitelli F, Taddei I, Morishima M, Meyers EN, Lindsay EA, Baldini A 2002 A genetic link between Tbx1 and fibroblast growth factor signaling. Development 129:4605-4611
25. Kurihara Y, Kurihara H, Oda H, Maemura K, Nagai R, Ishikawa T, Yazaki Y 1995 Aortic arch malformations and ventricular septal defect in mice deficient in endothelin-1. J Clin Invest 96:293-300
26. Clouthier DE, Hosoda K, Richardson JA, Williams SC, Yanagisawa H, Kuwaki T, Kumada M, Hammer RE, Yanagisawa M 1998 Cranial and cardiac neural crest defects in endothelin-A receptor-deficient mice. Development 125:813-824
27. Yanagisawa H, Yanagisawa M, Kapur RP, Richardson JA, Williams SC, Clouthier DE, de Wit D, Emoto N, Hammer RE 1998 Dual genetic pathways of endothelin-mediated intercellular signaling revealed by targeted disruption of endothelin converting enzyme-1 gene. Development 125:825-836
28. Bartram U, Molin DG, Wisse LJ, Mohamad A, Sanford LP, Doetschman T, Speer CP, Poelmann RE, Gittenberger-de Groot AC 2001 Double-outlet right ventricle and overriding tricuspid valve reflect disturbances of looping, myocardialization, endocardial cushion differentiation, and apoptosis in TGFβ2-knockout mice. Circulation 103:2745-2752
29. Iida K, Koseki H, Kakinuma H, Kato N, Mizutani-Koseki Y, Ohuchi H, Yoshioka H, Noji S, Kawamura K, Kataoka Y, Ueno F, Taniguchi M, Yoshida N, Sugiyama T, Miura N 1997 Essential roles of the winged helix transcription factor MFH-1 in aortic arch patterning and skeletogenesis. Development 124:4627-4638
30. Winnier GE, Kume T, Deng K, Rogers R, Bundy J, Raines C, Walter MA, Hogan BL, Conway SJ 1999 Roles for the winged helix transcription factors MF1 and MFH1 in cardiovascular development revealed by nonallelic noncomplementation of null alleles. Dev Biol 213:418-431
31. Franz T 1989 Persistent truncus arteriosus in the Splotch mutant mouse. Anat Embryol (Berl) 180:457-464
32. Feiner L, Webber AL, Brown CB, Lu MM, Jia L, Feinstein P, Mombaerts P, Epstein JA, Raper JA 2001 Targeted disruption of semaphorin 3C leads to persistent truncus arteriosus and aortic arch interruption. Development 128:3061-3070
33. Demczuk S, Thomas G, Aurias A 1996 Isolation of a novel gene from the DiGeorge Syndrome critical region with homology to Drosophila gdl and to human LAMC1 genes. Hum Mol Genet 5:633-638
34. Lindsay EA, Baldini A 1997 A mouse gene (Dgcr6) related to the Drosophila gonadal gene is expressed in early embryogenesis and is the homolog of a human gene deleted in DiGeorge syndrome. Cytogenet Cell Genet 79:243-247
35. Hierck BP, Poelmann RE, van Iperen L, Brouwer A, Gittenberger-de Groot AC 1996 Differential expression of α6 and other subunits of laminin binding integrins during development of the murine heart. Dev Dyn 206:100-111
36. Hierck BP, Gittenberger-de Groot AC, van Iperen L, Brouwer A, Poelmann RE 1996 Expression of the beta-4 integrin subunit in the mouse heart during embryonic development: retinoic acid advances beta-4 expression. Dev Dyn 207:89-103
37. Wilkinson DG 1995 RNA detection using non-radioactive in situ hybridization. Curr Opin Biotechnol 6:20-23
38. Mima T, Ueno H, Fischman DA, Williams LT, Mikawa T 1995 Fibroblast growth factor receptor is required for in vivo cardiac myocyte proliferation at early embryonic stages of heart development. Proc Natl Acad Sci U S A 92:467-471
39. Mikawa T, Fischman DA, Dougherty JP, Brown AM 1991 In vivo analysis of a new lacZ retrovirus vector suitable for cell lineage marking in avian and other species. Exp Cell Res 195:516-523
40. Cohen-Tannoudji M, Vandormael-Pournin S, Drezen J, Mercier P, Babinet C, Morello D 2000 lacZ sequences prevent regulated expression of housekeeping genes. Mech Dev 90:29-39
41. Lau S, Jardine K, McBurney MW 1999 DNA methylation pattern of a tandemly repeated LacZ transgene indicates that most copies are silent. Dev Dyn 215:126-138
42. Vagner S, Galy B, Pyronnet S 2001 Irresistible IRES: attracting the translation machinery to internal ribosome entry sites. EMBO Rep 2:893-898
43. Pfafll MW 2001 A new mathematical model for relative quantification in real-time RT-PCR. Nucleic Acids Res 29:e45
44. Chapman DL, Garvey N, Hancock S, Alexiou M, Agulnik SI, Gibson-Brown JJ, Cebra-Thomas J, Bollag RJ, Silver LM, Papaioannou VE 1996 Expression of the T-box family genes, Tbx1-Tbx5, during early mouse development. Dev Dyn 206:379-390
45. Pizzuti A, Novelli G, Ratti A, Amati F, Mari A, Calabrese G, Nicolis S, Silani V, Marino B, Scarlato G, Ottolenghi S, Dallapiccola B 1997 Ufd11, a developmentally expressed ubiquitination gene, is deleted in CATCH 22 syndrome. Hum Mol Genet 6:259-265
46. Clouthier DE, Williams SC, Yanagisawa H, Wieduwilt M, Richardson JA, Yanagisawa M 2000 Signaling pathways crucial for craniofacial development revealed by endothelin-A receptor-deficient mice. Dev Biol 217:10-24
47. Lie-Venema H, Gittenberger-de Groot AC, van Empel LJ, Boot MJ, Kerkdijk H, de Kant E, DeRuiter MC 2003 Ets-1 and Ets-2 transcription factors are essential for normal coronary and myocardial development in chicken embryos. Circ Res 92:749-756
48. Lindsay EA, Baldini A 2001 Recovery from arterial growth delay reduces penetrance of cardiovascular defects in mice deleted for the DiGeorge syndrome region. Hum Mol Genet 10:997-1002
49. Vitelli F, Morishima M, Taddei I, Lindsay EA, Baldini A 2002 Tbx1 mutation causes multiple cardiovascular defects and disrupts neural crest and cranial nerve migratory pathways. Hum Mol Genet 11:915-922
50. Kochilas L, Merscher-Gomez S, Lu MM, Potluri V, Liao J, Kucherlapati R, Morrow B, Epstein JA 2002 The role of neural crest during cardiac development in a mouse model of DiGeorge syndrome. Dev Biol 251:157-166
51. Roberts C, Daw SC, Halford S, Scambler PJ 1997 Cloning and deve lopmental expression analysis of chick Hira (Chira), a candidate gene for DiGeorge syndrome. Hum Mol Genet 6:237-245
52. Puech A, Saint-Jore B, Merscher S, Russell RG, Cherif D, Sirotkin H, Xu H, Factor S, Kucherlapati R, Skoultchi AI 2000 Normal cardiovascular development in mice deficient for 16 genes in 550 kb of the velocardiofacial/DiGeorge syndrome region. Proc Natl Acad Sci U S A 97:10090-10095