Literature DB >> 3095840

Genes for synapsin I, a neuronal phosphoprotein, map to conserved regions of human and murine X chromosomes.

T L Yang-Feng, L J DeGennaro, U Francke.   

Abstract

Synapsin I is a neuron-specific phosphoprotein associated with the membranes of small synaptic vesicles. Its function is not entirely clear, but evidence points to a possible role in the regulation of neurotransmitter release. Its biosynthesis is under developmental control. Assignment of the human synapsin I gene to the X chromosome at band Xp11 was accomplished by in situ hybridization, using a rat cDNA probe. Southern blot analysis of DNAs from a panel of human-Chinese hamster somatic cell hybrids with defined regions of the human X chromosome confirmed the in situ mapping data. The mouse synapsin I gene was assigned to the X chromosome, proximal to band XD, by Southern blot analysis of Chinese hamster-mouse somatic cell hybrids with normal or rearranged mouse X chromosomes. In situ chromosomal hybridization experiments localized the mouse synapsin I gene more precisely to bands XA1----A4. These results add to the comparative gene map of mammalian species and support certain hypotheses regarding the evolutionary relationship between human and mouse X chromosomes. We hypothesize that the synapsin I gene could be mutated in human X-linked disorders with primary neuronal degeneration, such as the Rett syndrome.

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Year:  1986        PMID: 3095840      PMCID: PMC386994          DOI: 10.1073/pnas.83.22.8679

Source DB:  PubMed          Journal:  Proc Natl Acad Sci U S A        ISSN: 0027-8424            Impact factor:   11.205


  34 in total

1.  Localization of DNA sequences in region Xp21 of the human X chromosome: search for molecular markers close to the Duchenne muscular dystrophy locus.

Authors:  B de Martinville; L M Kunkel; G Bruns; F Morlé; M Koenig; J L Mandel; A Horwich; S A Latt; J F Gusella; D Housman
Journal:  Am J Hum Genet       Date:  1985-03       Impact factor: 11.025

2.  Norrie's disease: close linkage with genetic markers from the proximal short arm of the X chromosome.

Authors:  A Gal; C Stolzenberger; T Wienker; P Wieacker; H H Ropers; U Friedrich; L Bleeker-Wagemakers; P Pearson; M Warburg
Journal:  Clin Genet       Date:  1985-03       Impact factor: 4.438

3.  Unusual scarcity of restriction site polymorphism in the human thyroglobulin gene. A linkage study suggesting autosomal dominance of a defective thyroglobulin allele.

Authors:  F Baas; H Bikker; G J van Ommen; J J de Vijlder
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

4.  A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases.

Authors:  B Hagberg; J Aicardi; K Dias; O Ramos
Journal:  Ann Neurol       Date:  1983-10       Impact factor: 10.422

5.  Inherited chondrodysplasia punctata due to a deletion of the terminal short arm of an X chromosome.

Authors:  C J Curry; R E Magenis; M Brown; J T Lanman; J Tsai; P O'Lague; P Goodfellow; T Mohandas; E A Bergner; L J Shapiro
Journal:  N Engl J Med       Date:  1984-10-18       Impact factor: 91.245

6.  Synapsin I is a spectrin-binding protein immunologically related to erythrocyte protein 4.1.

Authors:  A J Baines; V Bennett
Journal:  Nature       Date:  1985 May 30-Jun 5       Impact factor: 49.962

7.  Intraterminal injection of synapsin I or calcium/calmodulin-dependent protein kinase II alters neurotransmitter release at the squid giant synapse.

Authors:  R Llinás; T L McGuinness; C S Leonard; M Sugimori; P Greengard
Journal:  Proc Natl Acad Sci U S A       Date:  1985-05       Impact factor: 11.205

8.  Random X inactivation resulting in mosaic nullisomy of region Xp21.1----p21.3 associated with heterozygosity for ornithine transcarbamylase deficiency and for chronic granulomatous disease.

Authors:  U Francke
Journal:  Cytogenet Cell Genet       Date:  1984

9.  Human ornithine transcarbamylase locus mapped to band Xp21.1 near the Duchenne muscular dystrophy locus.

Authors:  V Lindgren; B de Martinville; A L Horwich; L E Rosenberg; U Francke
Journal:  Science       Date:  1984-11-09       Impact factor: 47.728

10.  Synapsin I (protein I), a nerve terminal-specific phosphoprotein. III. Its association with synaptic vesicles studied in a highly purified synaptic vesicle preparation.

Authors:  W B Huttner; W Schiebler; P Greengard; P De Camilli
Journal:  J Cell Biol       Date:  1983-05       Impact factor: 10.539

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  23 in total

Review 1.  The formation of synapses in the central nervous system.

Authors:  Adriana Ferreira; Sabrina Paganoni
Journal:  Mol Neurobiol       Date:  2002-08       Impact factor: 5.590

Review 2.  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

3.  Molecular cloning, functional expression, and chromosomal localization of mouse hepatocyte nuclear factor 1.

Authors:  C J Kuo; P B Conley; C L Hsieh; U Francke; G R Crabtree
Journal:  Proc Natl Acad Sci U S A       Date:  1990-12       Impact factor: 11.205

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.  The human U1-70K snRNP protein: cDNA cloning, chromosomal localization, expression, alternative splicing and RNA-binding.

Authors:  R A Spritz; K Strunk; C S Surowy; S O Hoch; D E Barton; U Francke
Journal:  Nucleic Acids Res       Date:  1987-12-23       Impact factor: 16.971

7.  Assignment of the T-cell differentiation gene MAL to human chromosome 2, region cen----q13.

Authors:  M A Alonso; D E Barton; U Francke
Journal:  Immunogenetics       Date:  1988       Impact factor: 2.846

8.  A melanocyte-specific gene, Pmel 17, maps near the silver coat color locus on mouse chromosome 10 and is in a syntenic region on human chromosome 12.

Authors:  B S Kwon; C Chintamaneni; C A Kozak; N G Copeland; D J Gilbert; N Jenkins; D Barton; U Francke; Y Kobayashi; K K Kim
Journal:  Proc Natl Acad Sci U S A       Date:  1991-10-15       Impact factor: 11.205

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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