Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia

Cell

Volumn 89, Issue 5, 1997, Pages 773-779

  Mundlos, S ^a,b   Otto, F ^d   Mundlos, C ^b   Mulliken, J B ^b   Aylsworth, A S ^e   Albright, S ^e   Lindhout, D ^f   Cole, W G ^g   Henn, W ^h   Knoll, J H M ^b   Owen, M J ⁱ   Mertelsmann, R ^d   Zabel, B U ^a   Olsen, B R ^b,c  

^a UNIVERSITY MEDICAL CENTER MAINZ   (Germany)

^b HARVARD MEDICAL SCHOOL   (United States)

^c HARVARD SCHOOL OF DENTAL MEDICINE   (United States)

^d UNIVERSITY OF FREIBURG   (Germany)

^e UNIVERSITY OF NORTH CAROLINA   (United States)

^f ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

^g HOSPITAL FOR SICK CHILDREN   (Canada)

^h SAARLAND UNIVERSITY   (Germany)

ⁱ IMPERIAL CANCER RESEARCH FUND   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHROMOSOME 6P; CLEIDOCRANIAL DYSPLASIA; FAMILY STUDY; GENE LOCUS; GENE MUTATION; GENOME; HUMAN; PHENOTYPE; PRIORITY JOURNAL; SKELETON;

EID: 15444351110     PISSN: 00928674     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0092-8674(00)80260-3     Document Type: Article

References (32)

1. Bae, S.C., Ogawa, E., Maruyama, M., Oka, H., Satake, M., Shigesada, K., Jenkins, N.A., Gilbert, D.J., Copeland, N.G., and Ito, Y. (1994). PEBP2 alphaB/mouse AML1 consists of multiple isoforms that possess differential transactivation potentials. Mol. Cell. Biol. 14, 3242-3252.
2. Baldini, A., Ross, M., Nizetic, D., Vatcheva, R., Lindsay, E.A., Lehrach, H., and Siniscalco, M. (1992). Chromosomal assignment of human YAC clones by fluorescence in situ hybridization: use of single-yeast-colony PCR and multiple labeling. Genomics 14, 181-184.
3. Birren, B., and Lai, E. (1993). Pulsed Field Gel Electrophoresis. A Practical Guide (New York: Academic Press, Inc.), pp. 49-50.
4. Ducy, P., Zhang, R., Geoffroy, V., Ridall, A.L., and Karsenty,G. (1997). Osf2/Cbfa1: a transcriptional activator of osteoblast differentiation. Cell, this issue.
5. Erlebacher, A., Filvaroff, E.H., Gitelman, S.E., and Derynck, R. (1995). Toward a molecular understanding of skeletal development. Cell 80, 371-378.
6. Ioannou, P.A., Amamiya, C.T., Garnes, J., Kroisel, P.M., Shizuya, H., Chen, C., Batzer, M.A., and de Jong, P.J. (1994). A new bacteriophage P1-derived vector for the propagation of large human DNA fragments. Nature Genet. 6, 84-89.
7. Jones, K.L. (1997). Smith's Recognizable Patterns of Human Malformation, 5th Ed. (Philadelphia: W.B. Saunders Company).
8. Kania, M.A., Bonner, A.S., Duffy, J.B., and Gergen, J.P. (1990). The Drosophila segmentation gene runt encodes a novel nuclear regulatory protein that is also expressed in the developing nervous system. Genes Dev. 4, 1701-1713.
9. Knoll, J.H.M., and Lichter, P. (1994). In situ hybridization to metaphase chromosomes and interphase nuclei. In Current Protocols in Human Genetics, N.C. Dracopoli, J.L. Haines, B.R. Korf, D.T. Moir, C.C. Morton, C.E. Seidman, J.G. Seidman, and D.R. Smith, eds. (New York: Green-Wiley), Unit 4.3.
10. Kwiatkowski, T.J., Jr., Beaudet, A.L., Trask, B.J., and Zoghbi, H.Y. (1991). Linkage mapping and fluorescence in situ hybridization of TCTE1 on human chromosome 6p: analysis of dinucleotide polymorphisms on native gels. Genomics 10, 921-926.
11. Ledley, F.D., Lumetta, M.R., Zoghbi, H.Y., VanTuinen, P., Ledbetter, S.A., and Ledbetter, D.H. (1988). Mapping of human methylmalonyl CoA mutase (MUT) locus on chromosome 6. Am. J. Hum. Genet. 42, 839-846.
12. Lehrach, H., Drmanac, R., Hoheisel, J., Larin, Z., Lennon, G., Monaco, A.P., Nizetic, D., Zehelner, G., and Poustka, A. (1990). Hybridization fingerprinting in genome mapping and sequencing. In Genetic and Physical Mapping, K.E. Davies and S.M. Tilghman, eds. (Cold Spring Harbor, New York: Cold Spring Harbor Laboratory Press), pp. 39-81.
13. Levanon, D., Negreanu, V., Bernstein, Y., Bar-Am, I., Avivi, L., and Groner, Y. (1994). AML1, AML2, and AML3, the human members of the runt domain gene-family: cDNA structure, expression, and chromosomal localization. Genomics 23, 425-432.
14. Liu, P., Tarle, S.A., Hajra, A., Claxton, D.F., Marlton, P., Freedman, M., Siciliano, M.J., and Collins, F.S. (1993). Fusion between transcription factor CBF beta/PEBP2 beta and a myosin heavy chain in acute myeloid leukemia. Science 261, 1041-1044.
15. Merriman, H.L., von Wijnen, A.J., Hiebert, S., Bidwell, J.P., Fey, E., Lian, J., Stein, J., and Stein, G.S. (1995). The tissue-specific nuclear matrix protein, NMP-2, is a member of the AML/CBF/PEBP2/Runt domain transcription factor family: interactions with the osteocalcin gene promoter. Biochemistry 34, 13125-13132.
16. Miyoshi, H., Ohira, M., Shimizu, K., Mitani, K., Hirai, H., Imai, T., Yokoyama, K., Soeda, E., and Ohki, M. (1995). Alternative splicing and genomic structure of the AML1 gene involved in acute myeloid leukemia. Nucleic Acids Res. 23, 2762-2769.
17. Mortlock, D.P., Post, L.C., and Innis, J.W. (1996). The molecular basis of hypodactyly (Hd): a deletion in Hoxa13 leads to arrest of digital arch formation. Nature Genet. 13, 284-289.
18. Mundlos, S., Mulliken, J.B., Abramson, D.L., Warman, M.L., Knoll, J.H., and Olsen, B.R. (1995). Genetic mapping of cleidocranial dysplasia and evidence of a microdeletion in one family. Hum. Mol. Genet. 4, 71-75.
19. Mundlos, S., and Olsen, B.R. (1997a). Heritable diseases of the skeleton. Part I: molecular insights into skeletal development-transcription factors and signaling pathways. FASEB J. 11, 125-132.
20. Mundlos, S., and Olsen, B.R. (1997b). Heritable diseases of the skeleton. Part II: molecular insights into skeletal development-matrix components and their homeostasis. FASEB J., 11, 227-233.
21. Muragaki, Y., Mundlos, S., Upton, J., and Olsen, B.R. (1996). Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13. Science 272, 548-551.
22. Nienhaus, H., Mau, U., Zang, K.D., and Henn, W. (1993). Pericentric inversion of chromosome 6 in a patient with cleidocranial dysplasia. Am. J. Med. Genet. 46, 630-631.
23. Nüsslein-Volhard, C., and Wieschaus, E. (1980). Mutations affecting segment number and polarity in Drosophila. Nature 287, 795-801.
24. Ogawa, E., Inuzuka, M., Maruyama, M., Satake, M., Naito-Fujimoto, M., Ito, Y., and Shigesada, K. (1993a). Molecular cloning and characterization of PEBP2 beta, the heterodimeric partner of a novel Drosophila runt-related DNA binding protein PEBP2 alpha. Virology 194, 314-331.
25. Ogawa, E., Maruyama, M., Kagoshima, H., Inuzuka, M., Lu, J., Satake, M., Shigesada, K., and Ito, Y. (1993b). PEBP2/PEA2 represents a family of transcription factors homologous to the products of the Drosophila runt gene and the human AML1 gene. Proc. Natl. Acad. Sci. USA 90, 6859-6863.
26. Okuda, T., van Deursen, J., Hiebert, S.W., Grosveld, G., and Downing, J.R. (1996). AML1, the target of multiple chromosomal translocations in human leukemia, is essential for normal fetal liver hematopoiesis. Cell 84, 321-330.
27. Otto, F., Thormell, A.P., Crompton, T., Denzel, A., Gilmour, K.C., Rosewell, I.R., Stamp, G.W.H., Beddington, R.S.P., Mundlos, S., Olsen, B.R., Selby, P.B., and Owen, M.J. (1997). Cbfa1, a candidate gene for the Cleidocranial Dysplasia syndrome, is essential for osteoblast formation and bone development. Cell, this issue.
28. Selby, P.B., and Selby, P.R. (1978). Gamma-ray-induced dominant mutations that cause skeletal abnormalities in mice. II. Description of proved mutations. Mut. Res. 51, 199-236.
29. Sillence, D.O., Ritchie, H.E., and Selby, P.B. (1987). Animal model: skeletal anomalies in mice with cleidocranial dysplasia. Am. J. Med. Genet. 27, 75-85.
30. Tagle, D.A., and Collins, F.S. (1992). An optimized Alu-PCR primer pair for human-specific amplification of YACs and somatic cell hybrids. Hum. Mol. Genet. 1, 121-122.
31. Vortkamp, A., Lee, K., Lanske, B., Segre, G.V., Kronenberg, H.M., and Tabin, C.J. (1996). Regulation of rate of cartilage differentiation by Indian hedgehog and PTH-related protein. Science 273, 613-622.
32. Wang, Q., Stacy, T., Binder, M., Marin-Padilla, M., Sharpe, A.H., and Speck, N.A. (1996). Disruption of the Cbfa2 gene causes necrosis and hemorrhaging in the central nervous system and blocks definitive hematopoiesis. Proc. Natl. Acad. Sci. USA 93, 3444-3449.