LIM-kinase1 hemizygosity implicated in impaired visuospatial constructive cognition

Cell

Volumn 86, Issue 1, 1996, Pages 59-69

  Frangiskakis, J Michael ^a,b   Ewart, Amanda K ^a,b   Morris, Colleen A ^d   Mervis, Carolyn B ^e   Bertrand, Jacquelyn ^e   Robinson, Byron F ^e   Klein, Bonita P ^e   Ensing, Gregory J ^f   Everett, Lorraine A ^g   Green, Eric D ^g   Pröschel, Christoph ^a   Gutowski, Nick J ^h   Noble, Mark ^a   Atkinson, Donald L ^a,b,c   Odelberg, Shannon J ^a,b   Keating, Mark T ^a,b,c  

^a UNIVERSITY OF UTAH HEALTH SCIENCES CENTER   (United States)

^b UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^c HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^d UNIVERSITY OF NEVADA SCHOOL OF MEDICINE   (United States)

^e EMORY UNIVERSITY   (United States)

^f INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

^g NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^h UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN KINASE;

ADULT; ARTICLE; CHROMOSOME DELETION; CLINICAL ARTICLE; COGNITIVE DEFECT; CONTROLLED STUDY; EMBRYO; GENE EXPRESSION; HEMIZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; PRIORITY JOURNAL; WILLIAMS BEUREN SYNDROME;

EID: 15844375659     PISSN: 00928674     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0092-8674(00)80077-X     Document Type: Article

References (50)

1. Abeliovich, A., Chen, C., Goda, Y., Suva, A.J., Stevens, C.F., and Tonegawa, S. (1993a). Modified hippocampal long-term potentiation in PKCγ mutant mice. Cell 75, 1253-1262.
2. Abeliovich, A., Paylor, R., Chen, C., Kim, J.J., Wehner, J.M., and Tonegawa, S. (1993b). PKCγ mutant mice exhibit mild deficits in spatial and contextual learning. Cell 75, 1263-1271.
3. Altschul, S.F., Gish, W., Miller, W., Myers, E.W., and Lipman, D.J. (1990). Basic local alignment search tool. J. Mol. Biol. 275, 403-410.
4. Bayley, N. (1969). Bayley Scales of Infant Development (New York: Psychological Corporation).
5. Bayley, N. (1993). Bayley Scales of Infant Development, Second Edition (San Antonio, Texas: Psychological Corporation).
6. Beery, K.E. (1989). Developmental Test of Visual Motor Integration, Third Revision (Cleveland, Ohio: Modern Curriculum Press).
7. Bellugi, U., Wang, P.P., and Jernigan, T.L (1994). Williams syndrome: an unusual neuropsychological profile. In Atypical Cognitive Deficits in Developmental Disorders: lmplicationsfor Brain Function, S.H. Broman and J. Grafman, eds. (Hillsdale, New Jersey: Erlbaum), pp. 23-56.
8. Bernard, O., Ganiatsas, S., Kannourakis, G., and Dringen, R. (1994). Kiz-1, a protein with LIM zinc finger and kinase domains, is expressed mainly in neurons. Cell Growth Diff. 5, 1159-1171.
9. Birren, S.J., Lo, L., and Anderson, D.J. (1993). Sympathetic neuroblasts undergo a developmental switch in trophic dependence. Development 119, 597-610.
10. Budarf, M.L., Collins, J., Gong, W., Roe, B., Wang, Z., Bailey, L.C., Sellinger, B., Michaud, D., Driscoll, D.A., and Emanuel, B.S. (1995). Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate gene. Nature Genet. 10, 269-278.
11. Capruso, D.X., Hamsher, K., and Benton, A.L. (1995). Assessment ofvisuocognitive processes. In Clinical Neuropsychological Assessment: A Cognitive Approach, R.L. Mapou and J. Spector, eds. (New York: Plenum Press), pp. 137-183.
12. Cheng, A.K., and Robertson, E.J. (1995). The murine LIM-kinase gene (limk) encodes a novel serine threonine kinase expressed predominantly in trophoblast giant cells and the developing nervous system. Mech. Dev. 52, 187-197.
13. Curran, M.E., Atkinson, D.L., Ewart, A.K., Morris, C.A., Leppert, M.F., and Keating, M.T. (1993). The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis. Cell 73, 159-168.
14. Curran, M.E., Splawski, I.,Timothy, K.W., Vincent, G.M., Green, E.D., and Keating, M.T. (1995). A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome. Cell 80, 795-803.
15. Dear, S., and Staden, R. (1991). A sequence assembly and editing program for efficient management of large projects. Nucl. Acids Res. 19, 3907-3911.
16. Dear, S., and Staden, R. (1992). A standard file format for data from DNA sequencing instruments. DNA Seq. 3, 99-105.
17. Dilts, C.V., Morris, C.A., and Leonard, C.O. (1990). Hypothesis for development of a behavioral phenotype in Williams syndrome. Am. J. Med. Genet. 6 (Suppl.), 126-131.
18. Elliott, C.D. (1990). Differential Ability Scales (San Diego, California: Harcourt Brace Jovanovich).
19. Ensing, G.J., Schmidt, M.A., Hagler, D.J., Michels, V.V., Carter, G.A., and Feldt, R.H. (1989). Spectrum of findings in a family with nonsyndromic autosomal dominant supravalvular aortic stenosis: a Doppler echocardiographic study. J. Am. Coll. Cardiol. 13, 413-419.
20. Ewart, A.K., Morris, C.A., Atkinson, D.L., Jin, W., Sternes, K., Spallone, P., Stock, D., Leppert, M., and Keating, M.T. (1993a). Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. Nature Genet. 5, 11-16.
21. Ewart, A.K., Morris, C.A., Ensing, G.J., Loker, J., Moore, C., Leppert, M., and Keating, M.T. (1993b). A human vascular disorder, supravalvular aortic stenosis, maps to chromosome 7. Proc. Natl. Acad. Sci. USA 90, 3226-3230.
22. Ewart, A.K., Jin, W., Atkinson, D.L., Morris, C.A., and Keating, M.T. (1994). Supravalvular aortic stenosis associated with a deletion disrupting the elastin gene. J. Clin. Invest. 93, 1071-1077.
23. Feinberg, A., and Vogelstein, B. (1984). Atechnique for radiolabeling DNA restriction endonuclease fragments to high specific activity. Anal. Biochem. 137, 266-267.
24. Foster, K., Ferrell, R., King-Underwood, L., Povey, S., Attwood, J., Rennick, R., Humphries, S.E., and Henney, A.M. (1993). Description of a dinucleotide repeat polymorphism in the human elastin gene and its use to confirm assignment of the gene to chromosome 7. Ann. Hum. Genet. 57, 87-96.
25. Freyd, G., Kim, S.K., and Horvitz, H.R. (1990). Novel cysteine-rich motif and homeodomain in the product of the Caenorhabditis elegans cell lineage gene lin-11. Nature 344, 876-879.
26. Gilbert-Dussardier, B., Bonneau, D., Gigarel, N., Merrer, M.L., Bonnet, D., Philip, N., Serville, F., Verloes, A., Rossi, A., Ayme, S., Weissenbach, J., Mattei, M.G., Lyonnet, S., and Munnich, A. (1995). A novel microsatellite DNA marker at locus D7S1870 detects hemizygosity in 75% of individuals with Williams syndrome. Am. J. Hum. Genet. 56, 542-544.
27. Grant, S.G.N., O'Dell, T.J., Karl, K.A., Stein, P.L., Soriano, P., and Kandel, E.R. (1992). Impaired long-term potentiation, spatial learning, and hippocampal development in fyn mutant mice. Science 258, 1903-1910.
28. Hwu, H.R., Roberts, J.W., Davidson, E.H., and Britten, R.J. (1986). Insertion and/or deletion of many repeated DNA sequences in human and higher ape evolution. Proc. Natl. Acad. Sci. USA 83, 3875-3879.
29. Karlsson, O., Thor, S., Norberg, T., Ohlsson, H., and Edlund, T. (1990). Insulin gene enhancer binding protein lsl-1 is a member of a novel class of proteins containing both a homeo and a Cys-His domain. Nature 344, 879-882.
30. Lowery, M.C., Morris, C.A., Ewart, A., Brothman, L.J., Zhu, X.L., Leonard, C.O., Carey, J.C., Keating, M., and Brothman, A.R. (1995). Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: evaluation of 235 patients. Am. J. Hum. Genet. 57, 49-53.
31. Marchuk, D., Drumm, M., Saulino, A., and Collins, F.S. (1991). Construction of T-vectors, a rapid and general system for direct cloning of unmodified PCR products. Nucl. Acids Res. 19, 1154.
32. Mardis, E.R. (1994). High-throughput detergent extraction of M13 subclones for fluorescent DNA sequencing. Nucl. Acids Res. 22, 2173-2175.
33. Mervis, C.B., and Bertrand, J. (1996). Relations between cognition and language: a developmental perspective. In Research on Communication and Language Disorders: Contributions to Theories of Language Development, L.B. Adamson and M.A. Romski, eds. (New York: Brookes), in press.
34. Mervis, C.B., Morris, C.A., Bertrand, J., and Robinson, B.F. (1996). Williams syndrome: findings from an integrated program of research. In Neurodevelopmental Disorders: Contributions to a New Framework from the Cognitive Neurosciences, H. Tager-Flusberg, ed. (Cambridge, Massachusetts: MIT Press), in press.
35. Mizuno, K., Okano, I., Ohashi, K., Nunoue, K., Kuma, K., Miyata, T., and Nakamura, T. (1994). Identification of a human cDNA encoding a novel protein kinase with two repeats of the LIM/doublezinc finger motif. Oncogene 9, 1605-1612.
36. Morris, C.A., Dilts, C., Demsey, S.A., Leonard, C.O., and Blackburn, B. (1988). The natural history of Williams syndrome: physical characteristics. J. Pediatr. 113, 318-326.
37. Morris, C.A., Loker, J., Ensing, G., and Stock, A.D. (1993). Supravalvular aortic stenosis cosegregates with a familial 6;7 translocation which disrupts the elastin gene. Am. J. Med. Genet. 46, 737-744.
38. Nunoue, K., Ohashi, K., Okano, I., and Mizuno, K. (1995). LIMK-1 and LIMK-2, two members of a LIM motif-containing protein kinase family. Oncogene 11, 701-710.
39. Olson, T.M., Michels, V.V., Urban, Z., Csiszar, K., Christiano, A.M., Driscoll, D.J., Feldt, R.H., Boyd, C.D., and Thibodeau, S.N. (1995). A 30 kb deletion within the elastin gene results in familial supravalvular aortic stenosis. Hum. Mol. Genet. 4, 1677-1679.
40. Ponting, C.P., and Phillips, C. (1995). DHR domains in syntrophins, neuronal NO synthases and other intracellular proteins. Trends Biochem. Sci. 20, 102-103.
41. Preus, M. (1984). The Williams syndrome: objective definition and diagnosis. Clin. Genet. 25, 422-428.
42. Pröschel, C., Blouin, M.-J., Gutowski, N.J., Ludwig, R., and Noble, M. (1995). Limk1 is predominantly expressed in neural tissues and phosphorylates serine, threonineand tyrosine residues in vitro. Oncogene 11, 1271-1281.
43. Rogers, S., Wells, R., and Rechsteiner, M. (1986). Amino acid sequences common to rapidly degraded proteins: the PEST hypothesis. Science 234, 364-368.
44. Schmeichel, K.L., and Beckerle, M.C. (1994). The LIM domain is a modular protein-binding interface. Cell 79, 211-219.
45. β T-cell receptor gene locus: direct primer-walking using cosmid template DNAs. Genomics 20, 149-168.
46. Udwin, O., Yule, W., and Martin, N. (1987). Cognitive abilities and behavioral characteristics of children with idiopathic infantile hypercalcemia. J. Child Psychol. Psychiatry 28, 297-309.
47. Way, J.C., and Chalfie, M. (1988). mec-3, a homeobox-containing gene that specifies differentiation of the touch receptor neurons in C. elegans. Cell 54, 5-16.
48. Wechsler, D. (1981). Wechsler Adult Intelligence Scale-Revised (San Antonio, Texas: Psychological Corporation).
49. Wilkinson, D.G. (1992). In Situ Hybridisation: A Practical Approach (Oxford: IRL Press).
50. Xu, Y., Einstein, J.R., Mural, R.J., Shah, M.B., and Uberbacher, E.G. (1994). An improved system for exon recognition and gene modeling in human DNA sequences. In Proceedings of the Second International Conference on Intelligent Systems for Molecular Biology, R. Altman, ed. (Menlo Park, California: American Association for Artificial Intelligence Press), pp. 376-384.