The identification of exons from the MED/PSACH region of human chromosome 19

Genomics

Volumn 32, Issue 2, 1996, Pages 218-224

  Li, Quan Yi ^a,b   Lennon, Greg G ^c   Brook, J David ^a,b  

^a UNIVERSITY OF NOTTINGHAM   (United Kingdom)

^b NOTTINGHAM CITY HOSPITAL   (United Kingdom)

^c LAWRENCE LIVERMORE NATIONAL LABORATORY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACHONDROPLASIA; ARTICLE; BONE DYSPLASIA; CHROMOSOME 19P; CHROMOSOME ANALYSIS; COSMID; EXON; GENE AMPLIFICATION; GENE EXPRESSION; HUMAN; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

EID: 0029865519     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1006/geno.1996.0108     Document Type: Article

References (33)

1. Adachi, A., Gendelman, H. E., Koenig, S., Folks, T., Willey, R., Rabson, A., and Martin, M. A. (1986). Production of acquired immunodeficiency syndrome-associated retrovirus in human and nonhuman cells transfected with an infectious molecular clone. J. Virol. 59: 284-291.
2. Altschul, S. F., Gish, W., Miller, W., Myers, E. W., and Lipman, D. J. (1990). Basic local alignment tool. J. Mol. Biol. 215: 403-410.
3. Briggs, M. D., Rasmussen, I. M., Weber, J. L., Yuen, J., Reinker, K., Garber, A. P., Rimoin, D. L., and Cohn, D. H. (1993). Genetic linkage of mild pseudoachondroplasia (PSACH) to markers in the pericentromeric region of chromosome 19. Genomics 18: 656-660.
4. Briggs, M. D., Hoffman, S. M. G., King, L. M., Olsen, A. S., Mohrenweiser, H., Leroy, J. G., Mortier, G. R., Rimoin, D. L., Lachman, R. S., Gaines, E. S., Celeniak, J. A., Knowlton, R. G., and Cohn, D. H. (1995). Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene. Nature Genet. 10: 330-336.
5. Buckler, A. J., Chang, D. D., Graw, S. L., Brook, J. D., Haber, D. A., Sharp, P. A., and Housman, D. E. (1991). Exon amplification: A strategy to isolate mammalian genes based on RNA splicing. Proc. Natl. Acad. Sci. USA 88: 11261-11265.
6. Byers, P. H. (1989). Molecular heterogeneity in chondrodysplasias. Am. J. Hum. Genet. 45: 1-4.
7. Ceklenik, J. A., Cohn, D. H., Briggs, M. D., Lennon, G., Hoffman, S., and Olsen, A. S. (1994). Precise localization of multiple epiphyseal dysplasia and pseudoachondroplasia mutations by genetic and physical mapping of chromosome 19. Am. J. Hum. Genet. 55(Suppl.): 1106/A190.
8. Chu, G., Hayakawa, H., and Berg, P. (1987). Electroporation for the efficient transfection of mammalian cells with DNA. Nucleic Acids Res. 15: 1311-1326.
9. Church, D. M., Banks, T. B., 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.
10. Church, D. M., Stoler, C. J., Rutter, J. L., Murrell, J. A., Trofatter, J. A., and Buckler, A. J. (1994). Isolation of genes from complex sources of mammalian genomic DNA using exon amplification. Nature Genet. 6: 98-105.
11. De Jong, P. J., Yokabata, K., Chen, C., Lohman, F., Pederson, L., McMinch, J., and van Dilla, M. (1989). Human chromosome specific partial digest libraries in lamda and cosmid vectors. Cytogenet. Cell Genet. 51: 985.
12. Feinberg, A. P., and Vogelstein, B. (1983). A technique for radiolabeling DNA restriction endonuclease fragment to high specific activity. Anal. Biochem. 132: 6-13.
13. Hecht, J. T., Nelson, L. D., Crowder, E., Wang, Y., Elder, F. F. B., Harrison, W. R., Francomano, C. A., Prange, C. K., Lennon, G. G., Deere, M., and Lawler, J. (1995). Mutation in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasia. Nature Genet. 10: 325-329.
14. Hochgeschwender, U., and Gardiner, K. (Eds.) (1994). "Identification of Transcribed Sequences," Plenum, New York.
15. Hultman, T., Stahl, S., Hornes, E., and Uhlen, M. (1989). Direct solid phase sequencing of genomic plasmid DNA using magnetic beads as solid support. Nucleic Acids Res. 17: 4937-4946.
16. Human Chromosome 19. p arm metric physical map in LLNL Human Genome Center WWW home page (http://www.bio.llnl.gov/bbrp/ genpme/genome.html).
17. Kimpton, J., and Emerman, M. (1992). Detection of replication-competent and pseudotyped human immunodeficiency virus with a sensitive cell line on the basis of activation of an integrated β-galactosidase gene. J. Virol. 66: 2232-2239.
18. Langer, L. O., Schaefer, G. B., and Wadsworth, D. T. (1993). Patient with double heterozygosity for achondroplasia and pseudoachondroplasia, with comments on these conditions and the relationship between pseudoachondroplasia and multiple epiphyseal dysplasia, Fairbank type. Am. J. Med. Genet. 47: 772-781.
19. Lennon, G. G., Auffray, C., Polymeropoulos, M., and Soares, M. B. (1995). The I.M.A.G.E. Consortium: An integrated molecular analysis of genomes and their expression. Genomics, in press.
20. Lovett, M., Kere, J., and Hinton, L. M. (1991). Direct selection: A method for the isolation of cDNA encoded by large genomic regions. Proc. Natl. Acad. Sci. USA 88: 9628-9632.
21. Martin, J. F., Miano, J. P., Hustad, C. M., Copeland, N. E., Jenkins, N. E., and Olson, E. N. (1994). A Mef2 gene that generates a muscle-specific isoform via alternative splicing. Mol. Cell. Biol. 14: 1647-1656.
22. Monaco, A. P., Neve, R. L., Colletti, F. C., Bertelson, C. J., Kurnit, D. M., and Kunkel, L. M. (1986). Isolation of candidate cDNAs for a portion of the Duchenne muscular dystrophy gene. Nature 323: 646-649.
23. Newton, G., Weremowicz, S., Morton, C. C., Copeland, N. G., Gilbert, D. J., Jenkins, N. A., and Lawler, J. (1994). Characterization of human and mouse cartilage oligomeric matrix protein. Genomics 24: 435-439.
24. Oehlmann, R., Summerville, G. P., Yeh, G., Weaver, E. J., Jimenez, S. A., and Knowlton, R. G. (1994). Genetic linkage mapping of multiple epiphyseal dysplasia to the pericentromeric region of chromosome 19. Am. J. Hum. Genet. 54: 3-10.
25. Oldberg, A., Antonsson, P., Lindblom, K., and Heinegard, D. (1992). COMP (cartilage oligomeric matrix protein) is structurally related to the thrombospondins. J. Biol. Chem. 267: 22346-22350.
26. Rauch, U., Karthikeyan, L., Maurel, P., Margolis, R. U., and Margolis, R. K. (1992). Cloning and primary structure of neurocan, a developmentally regulated, aggregating chonodroitin sulfate proteoglycan of brain. J. Biol. Chem. 267: 19536-19547.
27. Rommens, J. M., Iannuzzi, M. C., Kerem, B., Drumm, M. L., Melmer, G., and Dean, M. R. (1989). Identification of the cystic fibrosis gene: Chromosome walking and jumping. Science 245: 1059-1063.
28. Sambrook, J., Fritsch, E. F., and Maniatis, T. (1989). "Molecular Cloning: A Laboratory Manual," Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY.
29. Sanger, F., Nicklen, S., and Coulson, A. R. (1977). DNA sequencing with chain terminating inhibitors. Proc. Natl. Acad. Sci. USA 74: 5463.
30. Stanescu, V., Maroteaux, P., and Stanescu, R. (1982). The biochemical defect of pseudoachondroplasia. Eur. J. Pediatr. 138: 221-225.
31. Stanescu, R., Stanescu, V., Muriel, M. P., and Maroteaux, P. (1993). Multiple epiphyseal dysplasia, Fairbank type: Morphologic and biochemical study of cartilage. Am. J. Med. Genet. 45: 501-507.
32. The Huntington's Disease Collaborative Research Group (1993). A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 72: 971-983.
33. Trofatter, J. A., MacCollin, M. M., Rutter, J. L., Murrell, J. R., Duyao, M. P., Parry, D. M., Eldridge, R., Kley, N., Menon, A. G., Pulaski, K., Haase, V. H., Ambrose, C. M., Munroe, D., Bove, C., Haines, J. L., Martuza, R. L., MacDonald, M. E., Seizinger, B. R., Short, M. P., Buckler, A. J., and Gusella, J. F. (1993). A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor. Cell 72: 791-800.