Congenital heart disease in mice deficient for the DiGeorge syndrome region

Nature

Volumn 401, Issue 6751, 1999, Pages 379-383

  Lindsay, Elizabeth A ^a   Botta, Annalisa ^a   Jurecic, Vesna ^a   Carattini Rivera, Sandra ^a   Cheah, Yin Chai ^a   Rosenblatt, Howard M ^a   Bradley, Allan ^a   Baldini, Antonio ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ANIMAL EXPERIMENT; ANIMAL MODEL; AORTA ARCH ANOMALY; ARTICLE; CHROMOSOME DELETION; CONGENITAL HEART DISEASE; DIGEORGE SYNDROME; GENETIC ANALYSIS; MOUSE; NONHUMAN; PATHOGENESIS; PRIORITY JOURNAL;

ANIMALS; AORTA, THORACIC; CALCIUM; CHROMOSOME DELETION; DIGEORGE SYNDROME; DISEASE MODELS, ANIMAL; FEMALE; GENETIC COMPLEMENTATION TEST; GENETIC ENGINEERING; HEART DEFECTS, CONGENITAL; LYMPHOCYTE COUNT; MALE; MICE; MICE, INBRED C57BL; PARATHYROID HORMONE; PHOSPHORUS; PROTEINS;

ANIMALIA; MURINAE; RODENTIA;

EID: 0033598389     PISSN: 00280836     EISSN: None     Source Type: Journal    
DOI: 10.1038/43903     Document Type: Article

References (26)

1. Lindsay, E. A. & Baldini, A. Congenital heart defects and 22q11 deletions: which genes count? Mol. Med. Today 4, 350-358 (1998).
2. Wilson, D. I. et al. Minimum prevalence of chromosome 22q11 deletions. Am. J. Hum. Genet. (Suppl.) 55, A975 (1994).
3. Galili, N. et al. A region of mouse chromosome 16 is syntenic to the DiGeorge, velocardiofacial syndrome minimal critical region. Genome Res. 7, 17-26 (1997).
4. Botta, A., Lindsay, E. A., Jurecic, V. & Baldini, A. Comparative mapping of the DiGeorge Syndrome region in mouse shows inconsistent gene order and differential degree of gene conservation. Mamm. Genome 8, 890-895 (1997).
5. Puech, A. et al. 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, 14608-14613 (1997).
6. Sutherland, H. F., Kim, U. J. & Scambler, P. J. Cloning and comparative mapping of the DiGeorge syndrome critical region in the mouse. Genomics 52, 37-43 (1998).
7. Ramirez-Solis, R., Liu, P. & Bradley, A. Chromosome engineering in mice. Nature 378, 720-724 (1995).
8. Lindsay, E. A., Harvey, E. L., Scambler, P. J. & Baldini, A. ES2, a gene deleted in DiGeorge syndrome, encodes a nuclear protein and is expressed during early mouse development, where it shares an expression domain with a Goosecoid-like gene. Hum. Mol. Genet. 7, 629-635 (1998).
9. Pizzuti, A. et al. UFD1L, a developmentally expressed ubiquitination gene, is deleted in CATCH 22 syndrome. Hum. Mol. Genet. 6, 259-265 (1997).
10. Ryan, A. K. et al. Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J. Med. Genet. 34, 798-804 (1997).
11. 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, 1158-1161 (1999).
12. Magnaghi, P., Roberts, C., Lorain, S., Lipinski, M. & Scambler, P. J. HIRA, a mammalian homologue of Saccharomyces cerevisiae transcriptional co-repressors, interacts with Pax3. Nature Genet. 20, 74-77 (1998).
13. 2H) mutant. Development 124, 505-514 (1997).
14. Farrell, M. J. et al. HIRA, a DiGeorge syndrome candidate gene, is required for cardiac outflow tract septation. Circ. Res. 84, 127-135 (1999).
15. Kirby, M. L. in Heart Development (eds Harvey, R. P. & Rosenthal, N.) 179-193 (Academic, San Diego, 1999).
16. Kurihara, Y. H. et al. Aortic arch malformations and ventricular septal defects in mice deficient in Endothelin-1. J. Clin. Invest. 96, 293-300 (1995).
17. Yanagisawa, H. et al. Role of Endothelin-1/Endothelin-A receptor-mediated signaling pathway in the aortic arch patterning in mice. J. Clin. Invest. 102, 22-33 (1998).
18. Iida, K. et al. Essential roles of the winged helix transcription factor MFH-1 in aortic arch patterning and skeletogenesis. Development 124, 4627-4638 (1997).
19. Liu, P., Zhang, H., McLellan, A. Vogel & Bradley, A. Embryonic lethality and tumorigenesis caused by segmental aneuploidy on mouse chromosome 11. Genetics 150, 1155-1168 (1998).
20. Matzuk, M. M., Finegold, M. J., Su, J. G., Hseuh, A. J. & Bradley, A. α-inhibin is a tumour-suppressor gene with gonadal specificity in mice. Nature 360, 313-319 (1992).
21. Baldini, A. & Lindsay, E. A. in In Situ Hybridization Protocols (ed. Choo, K. H. A.) 75-85 (Humana, Clifton, New Jersey, 1994).
22. Kaufman, M. H. Atlas of Meuse Development (Academic, San Diego, 1992).
23. McLeod, M. J. Differential staining of cartilage and bone in whole mouse fetuses by alcian blue and alizarin red S. Teratology 22, 299-301 (1980).
24. Kidd, P. M. & Nicholson, J. K. in Manual of Clinical Laboratory Immunology 5th edn (eds Rose, N. R., deMacario, E. C., Folds, J. D., Lane, H. C. & Nakamura, R. M.) 229-244 (ASM, Washington DC, 1997).
25. Kruisbeek, A. M. & Shevach, E. in Current Protocols in Immunology Sections 3.12.1-3.12.14 (John Wiley and Sons, New York, 1991).
26. Kruisbeck, A. M. in Current Protocols in Immunology Sections 3.1.1-3.1.5 (John Wiley and Sons, New York, 1993).