Abstract
Expansion mutation is the cause of eight neuropsychiatric disorders. Thus far each disease is the result of expansion of a C-G rich trinucleotide repeat that is polymorphic for length in the general population. We now report the identification of seven novel cDNA clones with CCA or equivalent trinucleotide repeats obtained by screening a human frontal cortex cDNA library. The repeat lengths of two clones, CCA11 (linked to D20S101, expressed in human brain as a 3.2 kb message) and CCA38 (linked to D5S404), are highly polymorphic in a normal human population. CCA54, mapped to chromosome 19, appears to correspond to a portion of the human gene encoding the αl subunit of a P-type calcium channel. Expansion mutations at these loci should be considered as possible candidates in evaluating the genetic etiologies of diseases linked to chromosomes 5, 19, and 20.
This is a preview of subscription content, log in via an institution to check access.
Literature Cited
Sutherland, G.R., and Richards, R.I. (1995).Proc. Natl. Acad. Sci. U.S.A.92:3636–3641.
Ross, C.A., McInnis, M.G., Margolis, R.L., and Li, S-H. (1993).Trends Neurosci. 16:254–260.
La Spada, A.R., Paulson, H.L., and Fischbeck, K.H. (1994).Ann. Neurol. 36:814–822.
McInnis, M.G., McMahon, F.J., Chase, G.A., Simpson, S.G., Ross, C.A., and DePaulo, J.R. (1993).Am. J. Hum. Genet. 53:385–390.
Basett, A.S., and Honer, W.G. (1994).Am. J. Hum. Genet. 54:864–870.
Li, S-H., McInnis, M.G., Margolis, R.L., Antonarakis, S.E., and Ross, C.A. (1993).Genomics 16:572–579.
Nagafuchi, S., Yanagisawa, H., Sato, K., Shirayama, T., Ohsaki, E., Bundo, M., Takeda, T., Tadokoro, K., Kondo, I., Murayama, N., Tanaka, Y., Kikushima, H., Umino, K., Kurosawa, H., Furukawa, T., Nihei, K., Inoue, T., Sano, A., Komure, O., Takahashi, M., Yoshizawa, T., Kanazawa, I., and Yamada, M. (1994).Nature Genet. 6:14–18.
Margolis, R.L., Breschel, T.S., Li, S-H., Kidwai, A.S., McInnis, M.G., and Ross, C.A. (1995).Human Genet. (in press).
Sambrook, J., Fritsch, E.F., & Maniatis, T. (1989).Molecular Cloning: A Laboratory Manual (Cold Spring Harbor Laboratory Press. Cold Spring Harbor).
Altschul, A.F., Gish, W., Miller, W., Myers, E.W., and Lipman, D.J. (1990).J. Molec. Biol. 215:403–410.
Drwinga, H.L., Toji, L.H., Kim, C.H., Greene, A.E., and Mulivor, R.A. (1993).Genomics 16:311–314.
Weissenbach, J., Gyapay, G., Dib, C., Vignal, A., Morissette, J., Millasseau, P., Vaysseix, G., and Lathrop, M. (1992).Nature 359:794–801.
Ott, J. (1991).Analysis of Human Genetic Linkage, revised edition, The Johns Hopkins University Press, Baltimore.
Mori, Y., Friedrich, T., Kim, M.S., Mikami, A., Nakai, J., Ruth, P., Bosse, E., Hofmann, F., Flockerzi, V., and Flockerzi, T.F. (1991).Nature 350:398–402.
Williams, M.E., Brust, P.F., Feldman, D.H., Patthi, S., Simerson, S., Maroufi, A., McCue, A.F., Velicelebi, G., Ellis, S.B., and Harpold, M.M. (1992).Science 257:389–395.
Dubel, S.J., Starr, T.V., Hell, J., Ahlijanian, M.K., Enyeart, J.J., Catterall, W.A., and Snutch, T.P. (1992).Proc. 89:5058–5062.
Dubois, B.L., and Naylor, S.L. (1993).Genomics 16:315–319.
Weber, J.L. (1990).Genomics 7:524–530.
Engle, M.J., and Alpers, D.H. (1992).Clin. Chem. 38:2506–2509.
Green, H., and Wang, N. (1994).Proc. Natl. Acad. Sci. U.S.A. 91:4298–4302.
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Margolis, R.L., Breschel, T.S., Li, SH. et al. Characterization of cDNA clones containing CCA trinucleotide repeats derived from human brain. Somat Cell Mol Genet 21, 279–284 (1995). https://doi.org/10.1007/BF02255782
Issue Date:
DOI: https://doi.org/10.1007/BF02255782