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PMID: 1975480 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

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

American journal of human genetics ·Vol. 47 ·No. 3 ·1990-09-00 ·Pages 551-61

Ozçelik T, Lafreniere RG, Archer BT, Johnston PA, Willard HF, Francke U, Südhof TC

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.

MeSH Terms
Amino Acid Sequence Animals Base Sequence Chromosome Banding Chromosome Mapping Cloning, Molecular Cosmids Exons Genes Genetic Linkage Humans Introns Membrane Proteins/genetics Mice Molecular Sequence Data Nerve Tissue Proteins/genetics Polymorphism, Restriction Fragment Length Restriction Mapping Synaptophysin X Chromosome
Chemicals
Membrane Proteins Nerve Tissue Proteins Synaptophysin
Authors & Affiliations
7 authors, click to expand affiliations / ORCID
Ozçelik T
Howard Hughes Medical Institute, Stanford University Medical Center, CA 94305-5428.
Lafreniere R G
Archer B T
Johnston P A
Willard H F
Francke U
Südhof T C
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Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
Published
1990-09-00
Pages
551-61
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC1683862
Subset
IM
Grants
PHS HHS · ER60689 · United States
NIGMS NIH HHS · GM26105 · United States
External Links
PubMed source PMC Full Text View journal details
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