Mutational analysis of the synapsin III gene on chromosome 22q12-q13 in schizophrenia

Psychiatry Research

Volumn 94, Issue 1, 2000, Pages 1-7

  Ohtsuki, Tsuyuka ^a   Ichiki, Rie ^a   Toru, Michio ^b   Arinami, Tadao ^a  

^a Department of Biochemistry   (Japan)

^b TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

Author keywords

Association; Genome; Linkage; Polymorphism

Indexed keywords

SYNAPSIN; SYNAPSIN 3; UNCLASSIFIED DRUG;

ADULT; ARTICLE; BLOOD CELL; CHROMOSOME 22Q; CLINICAL TRIAL; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; EXON; FEMALE; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENE MUTATION; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; MULTICENTER STUDY; PRIORITY JOURNAL; SCHIZOPHRENIA; SINGLE STRAND CONFORMATION POLYMORPHISM;

ALLELES; BASE SEQUENCE; CASE-CONTROL STUDIES; CHROMOSOMES, HUMAN, PAIR 22; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; EXONS; FEMALE; GENE EXPRESSION; HUMANS; LINKAGE (GENETICS); MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; SCHIZOPHRENIA; SYNAPSINS;

EID: 0034709181     PISSN: 01651781     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0165-1781(00)00123-2     Document Type: Article

References (32)

1. Borenstein M., Rothstein H., Cohen J Power and Precision. 1997;Lawrence Erlbaum Associates, Mahwah, NJ.
2. Browning M.D., Dudek E.M., Rapier J.L., Leonard S., Freedman R. Significant reductions in synapsin but not synaptophysin-specific activity in the brains of some schizophrenics. Biological Psychiatry. 34:1993;529-535.
3. Coon H., Holik J., Hoff M., Reimherr F., Wender P., Myles-Worsley M., Waldo M., Freedman R., Byerley W. Analysis of chromosome 22 markers in nine schizophrenia pedigrees. American Journal of Medical Genetics. 54:1994;72-79.
4. De Camilli P., Benfenati F., Valtorta F., Greengard P. The synapsins. Annual Revue of Cell Biology. 6:1990;433-460.
5. Ferreira A., Chin L.S., Li L., Lanier L.M., Kosik K.S., Greengard P. Distinct roles of synapsin I and synapsin II during neuronal development. Molecular Medicine. 4:1998;22-28.
6. Ferreira A., Han H.Q., Greengard P., Kosik K.S. Suppression of synapsin II inhibits the formation and maintenance of synapses in hippocampal culture. Proceedings of the National Academy of Sciences USA. 92:1995;9225-9229.
7. Ferreira A., Kosik K.S., Greengard P., Han H.Q. Aberrant neurites and synaptic vesicle protein deficiency in synapsin II-depleted neurons. Science. 264:1994;977-979.
8. Ferreira A., Niclas J., Vale R.D., Banker G., Kosik K.S. Suppression of kinesin expression in cultured hippocampal neurons using antisense oligonucleotides. Journal of Cell Biology. 117:1992;595-606.
9. Gill M., Vallada H., Collier D., Sham P., Holmans P., Murray R., McGuffin P., Nanko S., Owen M., Antonarakis S., Housman D., Kazazian H., Nestadt G., Pulver A.E., Straub R.E., MacLean C.J., Walsh D., Kendler K.S., DeLisi L., Polymeropoulos M., Coon H., Byerley W., Lofthouse R., Gershon E., Read C.M. et al. A combined analysis of D22S278 marker alleles in affected sib-pairs: support for a susceptibility locus for schizophrenia at chromosome 22q12. Schizophrenia Collaborative Linkage Group (Chromosome 22). American Journal of Medical Genetics. 67:1996;40-45.
10. Grebb J.A., Greengard P. An analysis of synapsin II, a neuronal phosphoprotein, in postmortem brain tissue from alcoholic and neuropsychiatrically ill adults and medically ill children and young adults. Archives of General Psychiatry. 47:1990;1149-1156.
11. Han H.Q., Nichols R.A., Rubin M.R., Bahler M., Greengard P. Induction of formation of presynaptic terminals in neuroblastoma cells by synapsin IIb (see comments). Nature. 349:1991;697-700.
12. Huttner W.B., Schiebler W., Greengard P., De Camilli P. Synapsin I (protein I), a nerve terminal-specific phosphoprotein. III. Its association with synaptic vesicles studied in a highly purified synaptic vesicle preparation. Journal of Cell Biology. 96:1983;1374-1388.
13. Kalsi G., Brynjolfsson J., Butler R., Sherrington R., Curtis D., Sigmundsson T., Read T., Murphy P., Sharma T., Petursson H. et al. Linkage analysis of chromosome 22q12-13 in a United Kingdom/Icelandic sample of 23 multiplex schizophrenia families. American Journal of Medical Genetics. 60:1995;298-301.
14. Kao H.T., Porton B., Czernik A.J., Feng J., Yiu G., Haring M., Benfenati F., Greengard P. A third member of the synapsin gene family. Proceedings of the National Academy of Sciences USA. 95:1998;4667-4672.
15. Lasseter V.K., Pulver A.E., Wolyniec P.S., Nestadt G., Meyers D., Karayiorgou M., Housman D., Antonarakis S., Kazazian H., Kasch L. et al. Follow-up report of potential linkage for schizophrenia on chromosome 22q: part 3. American Journal of Medical Genetics. 60:1995;172-173.
16. Lewontin R.C. On measures of gametic disequilibrium. Genetics. 120:1988;849-852.
17. Li L., Chin L.S., Greengard P., Copeland N.G., Gilbert D.J., Jenkins N.A. Localization of the synapsin II (SYN2) gene to human chromosome 3 and mouse chromosome 6. Genomics. 28:1995;365-366.
18. Li L., Chin L.S., Shupliakov O., Brodin L., Sihra T.S., Hvalby O., Jensen V., Zheng D., McNamara J.O., Greengard P. et al. Impairment of synaptic vesicle clustering and of synaptic transmission, and increased seizure propensity, in synapsin I-deficient mice. Proceedings of the National Academy of Sciences USA. 92:1995;9235-9239.
19. Lu B., Greengard P., Poo M.M. Exogenous synapsin I promotes functional maturation of developing neuromuscular synapses. Neuron. 8:1992;521-529.
20. Moises H.W., Yang L., Li T., Havsteen B., Fimmers R., Baur M.P., Liu X., Gottesman II Potential linkage disequilibrium between schizophrenia and locus D22S278 on the long arm of chromosome 22. American Journal of Medical Genetics. 60:1995;465-467.
21. Pieribone V.A., Shupliakov O., Brodin L., Hilfiker-Rothenfluh S., Czernik A.J., Greengard P. Distinct pools of synaptic vesicles in neurotransmitter release (see comments). Nature. 375:1995;493-497.
22. Polymeropoulos M.H., Coon H., Byerley W., Gershon E.S., Goldin L., Crow T.J., Rubenstein J., Hoff M., Holik J., Smith A.M. et al. Search for a schizophrenia susceptibility locus on human chromosome 22. American Journal of Medical Genetics. 54:1994;93-99.
23. Pulver A.E., Karayiorgou M., Lasseter V.K., Wolyniec P., Kasch L., Antonarakis S., Housman D., Kazazian H.H., Meyers D., Nestadt G. et al. Follow-up of a report of a potential linkage for schizophrenia on chromosome 22q12-q13.1: part 2. American Journal of Medical Genetics. 54:1994;44-50.
24. Risch N., Merikangas K. The future of genetic studies of complex human diseases (see comments). Science. 273:1996;1516-1517.
25. Rosahl T.W., Spillane D., Missler M., Herz J., Selig D.K., Wolff J.R., Hammer R.E., Malenka R.C., Sudhof T.C. Essential functions of synapsins I and II in synaptic vesicle regulation. Nature. 375:1995;488-493.
26. Schaeffer E., Alder J., Greengard P., Poo M.M. Synapsin IIa accelerates functional development of neuromuscular synapses. Proceedings of the National Academy of Sciences USA. 91:1994;3882-3886.
27. Schwab S.G., Lerer B., Albus M., Maier W., Hallmayer J., Fimmers R., Lichtermann D., Minges J., Bondy B., Ackenheil M. et al. Potential linkage for schizophrenia on chromosome 22q12-q13: a replication study. American Journal of Medical Genetics. 60:1995;436-443.
28. Sudhof T.C., Czernik A.J., Kao H.T., Takei K., Johnston P.A., Horiuchi A., Kanazir S.D., Wagner M.A., Perin M.S., De Camilli P. et al. Synapsins: mosaics of shared and individual domains in a family of synaptic vesicle phosphoproteins. Science. 245:1989;1474-1480.
29. Tcherepanov A.A., Sokolov B.P. Age-related abnormalities in expression of mRNAs encoding synapsin 1A, synapsin 1B, and synaptophysin in the temporal cortex of schizophrenics. Journal of Neuroscience Research. 49:1997;639-644.
30. Terwilliger J.D., Ott J Handbook of Human Genetic Linkage. 1994;The Johns Hopkins University Press, Baltimore.
31. Vallada H.P., Gill M., Sham P., Lim L.C., Nanko S., Asherson P., Murray R.M., McGuffin P., Owen M., Collier D. Linkage studies on chromosome 22 in familial schizophrenia. American Journal of Medical Genetics. 60:1995;139-146.
32. Yang-Feng T.L., DeGennaro L.J., Francke U. Genes for synapsin I, a neuronal phosphoprotein, map to conserved regions of human and murine X chromosomes. Proceedings of the National Academy of Sciences USA. 83:1986;8679-8683.