Isolation and characterization of a gene from the DiGeorge chromosomal region homologous to the mouse Tbx1 gene

Genomics

Volumn 43, Issue 3, 1997, Pages 267-277

  Chieffo, Carla ^a   Garvey, Nancy ^b   Gong, Weilong ^a   Roe, Bruce ^c   Zhang, Guozhong ^c   Silver, Lee ^b   Emanuel, Beverly S ^a,d   Budarf, Marcia L ^a,d  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^b PRINCETON UNIVERSITY   (United States)

^c UNIVERSITY OF OKLAHOMA   (United States)

^d UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME 22Q; CHROMOSOME DELETION; DIGEORGE SYNDROME; DNA SEQUENCE; EMBRYO DEVELOPMENT; MOUSE; NONHUMAN; PRIORITY JOURNAL; SEQUENCE HOMOLOGY;

EID: 0031215021     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1006/geno.1997.4829     Document Type: Article

References (55)

1. Agulnik, S. I., Bollag, R. J., and Silver, L. M. (1995). Conservation of the T-box gene family from Mus musculus to Caenorhabditis elegans. Genomics 25: 214-219.
2. Augusseau, S., Jouk, S., Jalbert, P., and Prieur, M. (1986). DiGeorge syndrome and 22q11 rearrangements. Hum. Genet. 74: 206.
3. Basson, C. T., Bachinsky, D. R., Lin, R. C., Levi, T., Elkins, J. A., Soults, J., Grayzel, D., Kroumpouzou, E., Traill, T. A., Leblanc-Straceski, J., Renault, B., Kucherlapati, R., Seidman, J. G., and Seidman, C. E. (1997). Mutations in human cause limb and cardiac malformation in Holt-Oram syndrome. Nature Genet. 15: 30-35.
4. Bodenteich, A., Chissoe, S., Wang, Y. F., and Roe, B. A. (1994). Shotgun cloning as the strategy of choice to generate templates for high-throughput dideoxynucleotide sequencing. In "Automated DNA Sequencing and Analysis" (J. C. Venter, Ed.), pp. 42-50, Academic Press, London.
5. Bollag, R. J., Siegfried, Z., Cebra-Thomas, J. A., Garvey, N., Davison, E. M., and Silver, L. M. (1994). An ancient family of embryonically expressed mouse genes sharing a conserved protein motif with the T locus. Nature Genet. 7: 383-389.
6. Budarf, M. L., McDermid, H. E., Sellinger, B., and Emanuel, B. S. (1991). Isolation and regional localization of 35 unique anonymous DNA markers for human chromosome 22. Genomics 10:996-1002.
7. Budarf, M. L., Eckman, B., Michaud, D., McDonald, T., Gavigan, S., Buetow, K. H., Tatsumura, Y., Liu, Z., Hilliard, C., Driscoll, D., Goldmuntz, E., Meese, E., Zwarthoff, E., Williams, S., McDermid, H., Dumanski, J. P., Biegel, J., Bell, C. J., and Emanuel, B. S. (1996). Regional localization of over 300 loci on human chromosome 22 using a somatic cell hybrid mapping panel. Genomics 35: 275-288.
8. Bulfone, A., Smiga, S. M., Shimamura, K., Peterson, A., Puelles, L., and Rubenstein, J. L. R. (1995). T-Brain-1: a homolog of Brachyury whose expression defines molecularly distinct domains within the cerebral cortex. Neuron 15, 63-78.
9. Burn, J., Takao, A., Wilson, D., Cross, I., Momma, K., Wadey, R., Scambler, P., and Goodship, J. (1993). Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22. J. Med. Genet. 30: 822-824.
10. Chapman, D. L., Garvey, N., Hancock, S., Alexiou, A., Agulnik, S. I., Gibson-Brown, J. J., Cebra-Thomas, J., Bollag, R. J., Silver, L. M., and Papaioannou, V. E. (1996). Expression of the T-box family genes, Tbx1-Tbx5, during early mouse development. Dev. Dyn. 206: 379-390.
11. Chesley, P. (1935). Development of the short-tailed mutation in the house mouse. J. Exp. Zool. 70: 429-459.
12. Church, D. M., Banks, L. T., Rogers, A. C., Graw, S. L., Housman, D. E., Gusella, J. F., and Buckler, A. J. (1993). Identification of human chromosome 9 specific genes using exon amplification. Hum. Mol. Genet. 2: 1915-1920.
13. Conley, M. E., Beckwith, J. B., Mancer, J. F. K., and Tenckhoff, L. (1979). The spectrum of the DiGeorge syndrome. J. Pediatr. 94: 883-890.
14. Conlon, F. L., Sedgwick, S. G., Weston, K. M., and Smith, J. C. (1996). Inhibition of Xbra transcription activation causes defects in mesodermal patterning and reveals autoregulation of Xbra in dorsal mesoderm. Development 122: 2427-2435.
15. Desmaze, C., Prieur, M., Amblard, F., Aikem, M., LeDeist, F., Demczuk, S., Zucman, J., Plougastel, B., Delattre, O., Croquette, M-F., Breviere, G-M., Huon, C., Le Merrer, M., Mathieu, M., Sidi, D., Stephan, J-L., and Aurias, A. (1993) Physical mapping by FISH of the DiGeorge critical region (DGCR): Involvement of the region in familial cases. Am. J. Hum. Genet. 53: 1239-1249.
16. DiGeorge, A. M. (1965). Discussion on a new concept of the cellular basis of immunology. J. Pediatr. 67: 907.
17. Dobrovolskaïa-Zavadskaïa, N. (1927). Sur la mortification sponanee de la queue cheq la souris nouveau-nee et sur l'existence d'un caractere (facteur) hereditaire "non viable." C. R. Seances Soc. Biol. 97: 114-116.
18. Driscoll, D. A., Budarf, M. L., and Emanuel, B. S. (1992). A genetic etiology for DiGeorge syndrome: Consistent deletions and microde-letions of 22q11. Am. J. Hum. Genet. 50: 924-933.
19. Driscoll, D. A., Salvin, J., Sellinger, B., Budarf, M. L., McDonald-McGinn, D. M., Zackai, E. H., and Emanuel, B. S. (1993). Prevalence of 22q11 microdeletions in DiGeorge and velo-cardio-facial syndromes: Implications for genetic counselling and prenatal diagnosis. J. Med. Genet. 30: 813-817.
20. Driscoll, D. A., Li, M., Chien, P., Capuano, S., Zackai, E. H., McDonald-McGinn, D. M., Christensen, K. M., Cuneo, B. F., Saal, H. M., Gold, R., Spector, E. B., Emanuel, B. S., and Budarf, M. L. (1995), Familial 22q11 deletions: Phenotypic variability and determina-tion of deletion boundaries by FISH. Am. J. Hum. Genet. 57: A163.
21. Driscoll, D. A., and Emanuel, B. S. (1996). DiGeorge and velocardiofacial syndromes: The 22q11 deletion syndrome. Ment. Retard. Dev. Disabilities Res. Rev. 1-9.
22. Gong, W., Emanuel, B. S., Galili, N., Kim, D. H., Roe, B., Driscoll, D. A., and Budarf, M. L. (1997). Structural and mutational analysis of a conserved gene (DGSI) from the minimal DiGeorge syndrome critical region. Hum. Mol. Genet. 2: 1577-1582.
23. Gruneberg, H. (1958). Genetical studies on the skeleton of the mouse. XXIII. The development of brachyury and anury. J. Embryol. Exp. Morphol. 6: 424-443.
24. Halford, S., Wilson, D. I., Daw, S. C. M., Roberts, C., Wadey, R., Kamath, S., Wickremasinghe, A., Burn, J., Goodship, J., Mattel, M-G., Moormon, A. F. M., and Scambler, P. J. (1993). Isolation of a gene expressed during early embryogenesis from the region of 22q11 commonly deleted in DiGeorge syndrome. Hum. Mol. Genet. 2: 1577-1582.
25. Holder, S. E., Winter, R. M., Kamath, S., and Scambler, P. J. (1993). Velocardiofacial syndrome in a mother and daughter: Variability of the clinical phenotype. J. Med. Genet. 30: 825-827.
26. Holt, M., and Oram, S. (1960). Familial heart disease with skeletal malformations. Br. Heart J. 22: 236-242.
27. Jaquez, M., Driscoll, D. A., Li, M., Emanuel, B. S., Hernandeq, I., Jaquez, F., Lembert, N., Ramirez, J., and Matalon, R. (1997). Unbalanced 15;22 translocation in a patient with manifestations of DiGeorge and velocardiofacial syndrome. Am. J. Med. Genet. 70: 6-10.
28. Jedele, K. B., Michels, V. V., Puga, F. J., and Feldt, R. H. (1992). Velo-cardio-facial syndrome associated with ventricular septal defect, pulmonary atresia, and hypoplastic pulmonary arteries. Pediatrics 89: 915-191.
29. Johnson, D. R. (1974). Hairpin-tail: Case of post-reductional gene action in the mouse egg. Genetics 76: 795-805.
30. Kaufman, M. H. (1992). "The Atlas of Mouse Development," Academic Press, San Diego.
31. Kelley, D., Goldberg, R., Wilson, D., Lindsay, E., Carey, A., Goodship, J., Burn, J., Cross, I., Shprintzen, R. J., and Scambler, P. J. (1993). Confirmation that the velo-cardiofacial syndrome is associated with haplo-insufficiency of genes at chromosome 22. Am. J. Med. Genet. 45: 308-312.
32. Kirby, M. L. (1989). Plasticity and predetermination of mesencephalic and trunk neural crest transplanted into the region of the cardiac neural crest. Dev. Biol. 134: 402-412.
33. Kirby, M. L., Gale, T. F., and Stewart, D. E. (1983). Neural crest cells contribute to aorticopulmonary septation. Science 220: 1059-1061.
34. Kispert, A., Korschorz, B., and Herrmann, B.G. (1995). The T protein encoded by brachyury is a tissue-specific transcription factor. EMBO J. 14: 4763-4772.
35. Kozak, M. (1986). Point mutations define a sequence flanking the AUG initiator codon that modulates translation by eukaryotic ribosomes. Cell 44: 283-292.
36. Kurahashi, H., Nakayama, T., Osugi, Y., Tsuda, E., Masuno, M., Imaizumi, K., Kamiya, T. S., Okada, S., and Nishisho, I. (1996). Deletion mapping of 22q11 in CATCH 22 syndrome: Identification of a second critical region. Am. J. Hum. Genet. 58: 1377-1381.
37. Lammer, E. J., and Opitz, J. M. (1986). The DiGeorge anomaly as a developmental field defect. Am. J. Med. Genet. 29: 113-127.
38. Larsen, F., Gundersen, G., Lopez, R., and Prydz, H. (1992). CpG islands as gene markers in the human genome. Genomics 13: 1095-1107.
39. Le Douarin, N. (1982). "The Neural Crest," Cambridge Univ. Press, Cambridge, UK.
40. Levy, A., Demczuk, S., Aurias, A.,Depétris, D., Mattei, M., and Philip, N. (1996). Interstitial 22q11 microdeletion excluding ADU breakpoint in a patient with DiGeorge syndrome. Hum. Mol. Genet. 4: 2417-2419.
41. Li, M., Budarf, M. L., Sellinger, B., Jaquez, M., Matalon, R., Ball, S., Pagon, R. A., Rosengren, S. S., Emanuel, B. S., and Driscoll, D. A. (1994). Narrowing the DiGeorge critical region (DGCR) using DGS-VCFS associated translocation breakpoints. Am. J. Hum. Genet. 55: A10.
42. Li, Q. Y., Newbury-Ecob, R. A., Terrett, J. A., Wilson, D. I., Curtis, A. R. J., Yi, C. H., Gebuhr, T., Bullen, P. J., Robson, S. C., Strachan, T., Bonnet, D., Lyonnet, S., Young, I. D., Raeburn, J. A., Buckler, A. J., Law, D. J., and Brook, J. D. (1997). Holt-Oram syndrome is caused by mutations in TBX5, a member of the brachyury (T) gene family. Nature Genet. 15: 21-29.
43. Lindsay, E. A., Halford, S., Wadey, R., Scambler, P. J., and Baldini, A. (1993). Molecular cytogenetic characterization of the DiGeorge syndrome region using fluorescence in situ hybridization. Genomics 17: 403-407.
44. Lindsay, E. A., Greenberg, F., Shaffer, L. G., Scamber, P. J., and Baldini, A. (1995). Submicroscopic deletions at 22q11.2: Variability of the clinical picture and delineation of a common deleted region. Am. J. Med. Genet. 56:191-197.
45. Lindsay, S., and Bird, A. P. (1987). Use of restriction enzymes to detect potential gene sequences in mammalian DNA. Nature 327: 336-338.
46. McClean, S. D., Saal, H. M., Spinner, N. B., Emanuel, B. S., and Driscoll, D. A. (1993). Velo-cardio-facial syndrome intrafamilial variability of the phenotype. Am. J Dis. Child. 147: 1212-1216.
47. McDonald-McGinn, D. M., Driscoll, D. A., Bason, L., Christensen, K., Lynch, D., Sullivan, K., Canning, D., Zavod, W., Quinn, N., Rome, J., Paris, Y., Weinberg, P., Clark, B. J., Emanuel, B. S., and Zackai, E. H. (1995). Autosomal dominant "Optiz" GBBB syndrome due to a 22q11.2 deletion. Am. J. Med. Genet. 59: 103-113.
48. Ming, J. E., McDonald-McGinn, D. M., Megerian, T. E., Driscoll, D. A., Elias, E. R., Russell, B. M., Irons, M., Emanuel, B. S., Markowitz, R. I., and Zackai, E. H. (1997). Skeletal anomalies in patients with deletions of 22q11. Am. J. Med. Genet. [In Press]
49. Reed, K. C., and Mann, D. A. (1985). Rapid transfer of DNA from agarose gels to nylon membranes. Nucleic Acids Res. 13: 7207-7221.
50. Sambrook, J., Fritsch, F. F., and Maniatis, T. (1989). "Molecular Cloning: A Laboratory Manual," Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY.
51. Shprintzen, R. J., Goldberg, R. B., Young, D., and Wolford, L. (1981). The velo-cardio-facial syndrome: A clinical and genetic analysis. Pediatrics 67:167-172.
52. Trofatter, J. A., Long, K. R., Murrell, J. R., Stotler, C. J., Gusella, J. F., and Buckler, A. J. (1995). An expression-independent catalog of genes from human chromosome 22. Genome Res. 5: 214-224.
53. Uberbacher, E. C., and Mural, R. J. (1991). Locating protein-coding regions in human DNA sequences by a multiple sensor-neural network approach. Proc. Natl. Acad. Sci. USA 88: 11261-11265.
54. Williams, C. J., Matthew, R., Considine, E., McCarron, S., Gow, P., Ladda, R., McLain, D., Michels, V. M., Murphy, W., Prockop D. J., and Ganguly, A. (1995). Three new point mutations in type II procollagen (COL2A1) and identification of a fourth family with the COL2A1 Arg-519-Cys base substitution using conformation sensitive gel electrophoresis. Hum. Mol. Genet. 4: 309-312.
55. Wilson, D. I., Cross, I. E., Wren, C., Scambler, P. J., Burn, J., and Goodship, J. (1994). Minimum prevalence of chromosome 22q11 deletions. Am. J. Hum Genet. 55: A975.