Literature DB >> 1975480

Synaptophysin: structure of the human gene and assignment to the X chromosome in man and mouse.

T Ozçelik1, R G Lafreniere, B T Archer, P A Johnston, H F Willard, U Francke, T C Südhof.   

Abstract

Synaptophysin is an integral membrane protein of small synaptic vesicles in brain and endocrine cells. We have determined the structure and organization of the human synaptophysin gene and have established the chromosome localizations in man and mouse. Analysis of a cosmid clone containing the human synaptophysin gene (SYP) revealed seven exons distributed over approximately 20 kb, when compared with the previously published cDNA sequence. The exon-intron boundaries have been identified and do not correlate with functional domains. One intron interrupts the 3' untranslated region. Chromosomal localization of the human and murine genes for synaptophysin established the human SYP locus on the X chromosome in subbands Xp11.22-p11.23 and the mouse synaptophysin gene locus (Syp) on the X chromosome in region A-D. In addition, an Eco0109 RFLP has been identified and used in genetic mapping of the human SYP locus and supports the order TIMP-SYP-DXS14 within a span of approximately 4-7 centimorgans.

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Year:  1990        PMID： 1975480      PMCID： PMC1683862     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  52 in total

1.  Chromosomal mapping of genes involved in growth control.

Authors:  U Francke; T L Yang-Feng; J E Brissenden; A Ullrich
Journal:  Cold Spring Harb Symp Quant Biol       Date:  1986

2.  The multisubunit structure of synaptophysin. Relationship between disulfide bonding and homo-oligomerization.

Authors:  P A Johnston; T C Südhof
Journal:  J Biol Chem       Date:  1990-05-25       Impact factor: 5.157

3.  The structure of the human synapsin I gene and protein.

Authors:  T C Südhof
Journal:  J Biol Chem       Date:  1990-05-15       Impact factor: 5.157

4.  Linkage relationships between X-linked retinitis pigmentosa and nine short-arm markers: exclusion of the disease locus from Xp21 and localization to between DXS7 and DXS14.

Authors:  A F Wright; S S Bhattacharya; J F Clayton; M Dempster; P Tippett; C M McKeown; M Jay; B Jay; A C Bird
Journal:  Am J Hum Genet       Date:  1987-10       Impact factor: 11.025

5.  The cDNA and derived amino acid sequences for rat and human synaptophysin.

Authors:  T C Südhof; F Lottspeich; P Greengard; E Mehl; R Jahn
Journal:  Nucleic Acids Res       Date:  1987-11-25       Impact factor: 16.971

6.  Gene for incontinentia pigmenti maps to band Xp11 with an (X;10) (p11;q22) translocation.

Authors:  L A Cannizzaro; F Hecht
Journal:  Clin Genet       Date:  1987-07       Impact factor: 4.438

7.  Protein tyrosine phosphorylation in synaptic vesicles.

Authors:  D T Pang; J K Wang; F Valtorta; F Benfenati; P Greengard
Journal:  Proc Natl Acad Sci U S A       Date:  1988-02       Impact factor: 11.205

8.  Protein p38: an integral membrane protein specific for small vesicles of neurons and neuroendocrine cells.

Authors:  F Navone; R Jahn; G Di Gioia; H Stukenbrok; P Greengard; P De Camilli
Journal:  J Cell Biol       Date:  1986-12       Impact factor: 10.539

9.  Cloning and sequence analysis of cDNA encoding p38, a major synaptic vesicle protein.

Authors:  K M Buckley; E Floor; R B Kelly
Journal:  J Cell Biol       Date:  1987-12       Impact factor: 10.539

10.  Synaptophysin: molecular organization and mRNA expression as determined from cloned cDNA.

Authors:  R E Leube; P Kaiser; A Seiter; R Zimbelmann; W W Franke; H Rehm; P Knaus; P Prior; H Betz; H Reinke
Journal:  EMBO J       Date:  1987-11       Impact factor: 11.598
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  19 in total

Review 1.  Comparative map for mice and humans.

Authors:  J H Nadeau; M T Davisson; D P Doolittle; P Grant; A L Hillyard; M R Kosowsky; T H Roderick
Journal:  Mamm Genome       Date:  1992       Impact factor: 2.957

Review 2.  Mouse X chromosome.

Authors:  S D Brown; P Avner; G E Herman
Journal:  Mamm Genome       Date:  1992       Impact factor: 2.957

Review 3.  Mouse X chromosome.

Authors:  S D Brown; P Avner; V M Chapman; R M Hamvas; G E Herman
Journal:  Mamm Genome       Date:  1991       Impact factor: 2.957

Review 4.  Comparative map for mice and humans.

Authors:  J H Nadeau; M T Davisson; D P Doolittle; P Grant; A L Hillyard; M Kosowsky; T H Roderick
Journal:  Mamm Genome       Date:  1991       Impact factor: 2.957

5.  2012 William Allan Award: Adventures in cytogenetics.

Authors:  Uta Francke
Journal:  Am J Hum Genet       Date:  2013-03-07       Impact factor: 11.025

6.  Synaptophysin and synaptojanin-1 in Down syndrome are differentially affected by Alzheimer's disease.

Authors:  Sarah B Martin; Amy L S Dowling; Joann Lianekhammy; Ira T Lott; Eric Doran; M Paul Murphy; Tina L Beckett; Frederick A Schmitt; Elizabeth Head
Journal:  J Alzheimers Dis       Date:  2014       Impact factor: 4.472

7.  Synaptophysin, a major synaptic vesicle protein, is not essential for neurotransmitter release.

Authors:  H T McMahon; V Y Bolshakov; R Janz; R E Hammer; S A Siegelbaum; T C Südhof
Journal:  Proc Natl Acad Sci U S A       Date:  1996-05-14       Impact factor: 11.205

8.  Induction of early growth response gene 2 expression in the forebrain of mice performing an attention-set-shifting task.

Authors:  D A DeSteno; C Schmauss
Journal:  Neuroscience       Date:  2008-01-12       Impact factor: 3.590

9.  A highly polymorphic dinucleotide repeat on the proximal short arm of the human X chromosome: linkage mapping of the synapsin I/A-raf-1 genes.

Authors:  C U Kirchgessner; J A Trofatter; M M Mahtani; H F Willard; L J DeGennaro
Journal:  Am J Hum Genet       Date:  1991-07       Impact factor: 11.025

10.  X chromosome linkage studies in familial Rett syndrome.

Authors:  A R Curtis; S Headland; S Lindsay; N S Thomas; E Boye; S Kamakari; P Roustan; M Anvret; J Wahlstrom; G McCarthy
Journal:  Hum Genet       Date:  1993-01       Impact factor: 4.132
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