Abstract
The sequences of three cosmids (90 kilobases) from the Huntington's disease region in chromosome 4p16.3 have been determined. A 30,837 base overlap of DNA sequenced from two individuals was found to contain 72 DNA sequence polymorphisms, an average of 2.3 polymorphisms per kilobase (kb). The assembled 58 kb contig contains 62 Alu repeats, and eleven predicted exons representing at least three expressed genes that encode previously unidentified proteins. Each of these genes is associated with a CpG island. The structure of one of the new genes, hda1–1, has been determined by characterizing cDNAs from a placental library. This gene is expressed in a variety of tissues and may encode a novel housekeeping gene.
This is a preview of subscription content, access via your institution
Access options
Subscribe to this journal
Receive 12 print issues and online access
$209.00 per year
only $17.42 per issue
Buy this article
- Purchase on Springer Link
- Instant access to full article PDF
Prices may be subject to local taxes which are calculated during checkout
Similar content being viewed by others
References
Martin-Gallardo, A. et al. Nature Genetics 1, 34–39 (1992).
Martin, J.B. & Gusella, J.F. New Engl. J. Med. 315, 1267–1276 (1986).
Francke, U. et al., Am. J. hum. Genet. 37, 250–267 (1985).
Kunkel, L.M. et al. Proc. natn. Acad. Sci. U.S.A. 82, 4778–4882 (1985).
Orye, E., Delbeke, M. & Vandenabeele, B. (Letter) Lancet II, 1376 (1971).
Orye, E., Delbeke, M. & Vandenabeele, B. Clin. Genet. 5, 457–464 (1974).
Sparkes, R., Muller, H., Klisak, I. & Abram, J. Science 203, 1027–1029 (1979).
Sparkes, R. et al. Science 208, 1042–1044 (1980).
Schmidt, M., Michels, V. & Dewald, G. Am. J. med. Genet. 28, 771–777 (1987).
Cawthon, R. et al., Cell 62, 193–201 (1990).
Wallace, M. et al. Science 249, 181–186 (1990).
Gusella, J. et al. Nature 306, 234–238 (1983).
Bucan, M. et al. Genomics 6, 1–15 (1990).
Bates, G. et al. Am. J. hum. Genet. 49, 7–16 (1991).
Whaley, W. et al., Somat. Cell molec. Genet. 17, 83–91 (1991).
Wallace, M. et al. Nature 353, 864–866 (1991).
Laird, C. Trends Genet. 6, 242–247 (1990).
Snell, R. et al. Am. J. hum. Genet. (In the Press).
Thompson, L. et al. Genomics 11, 1133–1142 (1991).
Chakravarty, A. et al. Am. J. hum. Genet. 36, 1239–1258 (1984).
Chakravarty, A. et al. Proc. natn. Acad. Sci. U.S.A. 81, 6085–1258 (1984).
Antonarakis, S. et al. Hum. Genet. 80, 265–273 (1988).
Bailey, W. et al. Molec. biol. Evol. 8, 155–184 (1991).
Perrin-Percontal, P. et al. J. molec. Evol. 34, 17–30 (1992).
Kimura, M. in S. Osawa & T.Honjo (eds)Evolution of Life 67–78 (Springer, Tokyo, 1991).
Hofker, M. et al. Am. J. hum. Genet. 39, 438–451 (1986).
Higuchi, M. et al. Genomics 6, 65–71 (1990).
Landegren, U. et al. Science 241, 1077–1080 (1988).
Schmid, C. & Jelinek, W. Science 216, 1065–1070 (1982).
Fanning, T & Singer, M. Biochem. Biophys. Acta. 910, 203–212 (1987).
Paulson, K. et al. Nature 316, 359–361 (1985).
Weber, J. Genomics 7, 524–530 (1990).
Moyzis, R.K. et al. Proc. natn. Acad. Sci. U.S.A. 85, 6622–6626 (1988).
Korenberg, J. & Rykowski, M. Cell 53, 391–400 (1988).
Chen, E.Y. et al. Genomics 4, 479–497 (1989).
Edwards, A. et al. Genomics 6, 593–608 (1990).
Moyzis, R.K. et al. Genomics 4, 273–289 (1989).
Slagel, V. et al. Molec. Biol. Evol. 4, 19–29 (1987).
Bernardi, G. Ann. Rev. Genet. 23, 637–661 (1989).
Jurka, J. & Milosavljevic, A. J. molec. Evol. 32, 105–121 (1991).
Matera, A., Hellmann, U. & Schmid, C. Mol. cell. Bio. 10, 5424–5432 (1990).
Batzer, M. & Deininger, P. Genomics 9, 481–487 (1991).
Economou, E., Bergen, A., Warren, A. & Antonarakis, S. Proc. natn. Acad. Sci. U.S.A. 87, 2951–2954 (1990).
Bird, A. Nature 321, 209–213 (1986).
Pearson, W. & Lipman, D. Proc. natn. Acad. Sci. U.S.A. 85, 2444–2448 (1988).
Altschul, S. et al. J. molec. Biol. 215, 403–410 (1990).
Fickett, J. Nucl. Acids Res. 10, 5303–5318 (1982).
Uberbacher, E. & Mural, R. Proc. natn. Acad. Sci. U.S.A. 88, 11261–11265 (1991).
Fields, C & Soderlund, C. Comp. Applic. Biosci. 6, 263–270 (1990).
Soderlund, C., Shanmugam, P., White, O. & Fields, C. Proc. Hawaii Int. Conf. on System Sciences 653–662 (IEEE Computer Society Press, 1992).
Fu, Y.-H. et al. Cell 67, 1047–1058 (1991).
Brook, J.D. et al. Cell 68, 799–808 (1992).
Goldfarb, L.G. et al. Proc. natn. Acad. Sci. U.S.A. 88, 10926–10930 (1991).
Kozak, M. Nucl. Acids Res. 15, 8125–8148 (1987).
Schwabe, J. & Rhodes, D. Trends Biochem. 16, 291–296 (1991).
Oliver, S. et al. Nature 357, 38–46 (1992).
Sulston, J. et al. Nature 356, 37–41 (1992).
Adams, M.D. et al. Science 252, 1651–1656 (1991).
Adams, M.D. et al. Nature 355, 632–634 (1992).
Hoog, C. Nucl. Acids Res. 19, 6123–6127 (1991).
McCombie, W.R. et al. Nature Genet. 1, 124–131 (1992).
Waterston, R. et al. Nature Genet. 1, 114–123 (1992).
Wasmuth, J. et al. Am J. hum. Genet. 39, 397–403 (1986).
Wilson, R., Chen, C. & Hood, L. BioTechniques 8, 184–189 (1990).
Sambrook, J., Fritsch, E. & Maniatis, T. Molecular Cloning: a Laboratory Manual3 edn (Cold Spring Harbor Laboratory Press, New York, 1989).
Gocayne, J.D. et al. Proc. natn. Acad. Sci. U.S.A. 84, 8296–8300 (1987).
Dubnick, M. Comp. Appl. Biosci. (In the press).
Devereux, J., Haeberli, P. & Smithies, O. Nucl. Acids Res. 12, 387–395 (1984).
McCombie, W.R. et al. Methods 3, 33–40 (1991).
McCombie, W.R. et al. DNA Sequence 2, 289–296 (1992).
MacDonald, M. et al. Nature Genet. 1, 99–103 (1992).
Bates, G. et al. Nature Genet. 1, 180–186 (1992).
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
McCombie, W., Martin-Gallardo, A., Gocayne, J. et al. Expressed genes, Alu repeats and polymorphisms in cosmids sequenced from chromosome 4p16.3. Nat Genet 1, 348–353 (1992). https://doi.org/10.1038/ng0892-348
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1038/ng0892-348
This article is cited by
-
How small is the center of science? Short cross-disciplinary cycles in co-authorship graphs
Scientometrics (2015)
-
Loss of heterozygosity at 4p16.3 and mutation of FGFR3 in transitional cell carcinoma
Oncogene (2001)
-
Initial sequencing and analysis of the human genome
Nature (2001)
-
Sequence and genomic organization of the human G-protein Golfα gene (GNAL) on chromosome 18p11, a susceptibility region for bipolar disorder and schizophrenia
Molecular Psychiatry (2000)
-
Purification of CpG islands using a methylated DNA binding column
Nature Genetics (1994)