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פותח על ידי קלירמאש פתרונות בע"מ -
Characterization of the human synaptogyrin gene family
Year:
1998
Source of publication :
Human Genetics
Authors :
סרוסי, אייל
;
.
Volume :
103
Co-Authors:
Kedra, D., Clinical Genetics Unit, Department of Molecular Medicine, Karolinska Hospital, S-17176 Stockholm, Sweden
Pan, H.-Q., Department of Chemistry, University of Oklahoma, 620 Parrington Oval, Norman, OK 73019-0370, United States
Seroussi, E., Clinical Genetics Unit, Department of Molecular Medicine, Karolinska Hospital, S-17176 Stockholm, Sweden
Fransson, I., Clinical Genetics Unit, Department of Molecular Medicine, Karolinska Hospital, S-17176 Stockholm, Sweden
Guilbaud, C., Clinical Genetics Unit, Department of Molecular Medicine, Karolinska Hospital, S-17176 Stockholm, Sweden
Collins, J.E., Sanger Centre, Wellcome Trust Genome Campus, Hinxton, Cambs. CB10 1SA, United Kingdom
Dunham, I., Sanger Centre, Wellcome Trust Genome Campus, Hinxton, Cambs. CB10 1SA, United Kingdom
Blennow, E., Clinical Genetics Unit, Department of Molecular Medicine, Karolinska Hospital, S-17176 Stockholm, Sweden
Roe, B.A., Department of Chemistry, University of Oklahoma, 620 Parrington Oval, Norman, OK 73019-0370, United States
Piehl, F., Department of Neuroscience, Karolinska Institute, S-171 77 Stockholm, Sweden
Dumanski, J.P., Clinical Genetics Unit, Department of Molecular Medicine, Karolinska Hospital, S-17176 Stockholm, Sweden
Facilitators :
From page:
131
To page:
141
(
Total pages:
11
)
Abstract:
Genomic sequencing was combined with searches of databases for identification of active genes on human chromosome 22. A cosmid from 22q13, located in the telomeric vicinity of the PDGFB (platelet-derived growth factor B-chain) gene, was fully sequenced. Using an expressed sequence tag-based approach we characterized human (SYNGR1) and mouse (Syngr1) orthologs of the previously cloned rat synaptogyrin gene (RATSYNGR1). The human SYNGR1 gene reveals three (SYNGR1a, SYNGR1b, SYNGR1c) alternative transcript forms of 4.5, 1.3 and 0.9 kb, respectively. The transcription of SYNGR1 starts from two different promoters, and leads to predicted proteins with different N- and C-terminal ends. The most abundant SYNGR1a transcript, the 4.5-kb form, which corresponds to RATSYNGR1, is highly expressed in neurons of the central nervous system and at much lower levels in other tissues, as determined by in situ hybridization histochemistry. The levels of SYNGR1b and SYNGR1c transcripts are low and limited to heart, skeletal muscle, ovary and fetal liver. We also characterized two additional members of this novel synaptogyrin gene family in human (SYNGR2 and SYNGR3), and one in mouse (Syngr2). The human SYNGR2 gene transcript of 1.6 kb is expressed at high levels in all tissues, except brain. The 2.2-kb SYNGR3 transcript was detected in brain and placenta only. The human SYNGR2 and SYNGR3 genes were mapped by fluorescence in situ hybridization to 17qtel and 16ptel, respectively. The human SYNGR2 gene has a processed pseudogene localized in 15q11. All predicted synaptogyrin proteins contain four strongly conserved transmembrane domains, which is consistent with the M-shaped topology. The C-terminal polypeptide ends are variable in length, display a low degree of sequence similarity between family members, and are therefore likely to convey the functional specificity of each protein.
Note:
Related Files :
Animals
Base Sequence
carboxy terminal sequence
chromosome mapping
Female
mice
multigene family
עוד תגיות
תוכן קשור
More details
DOI :
10.1007/s004390050795
Article number:
Affiliations:
Database:
סקופוס
Publication Type:
מאמר
;
.
Language:
אנגלית
Editors' remarks:
ID:
30672
Last updated date:
02/03/2022 17:27
Creation date:
17/04/2018 00:56
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Scientific Publication
Characterization of the human synaptogyrin gene family
103
Kedra, D., Clinical Genetics Unit, Department of Molecular Medicine, Karolinska Hospital, S-17176 Stockholm, Sweden
Pan, H.-Q., Department of Chemistry, University of Oklahoma, 620 Parrington Oval, Norman, OK 73019-0370, United States
Seroussi, E., Clinical Genetics Unit, Department of Molecular Medicine, Karolinska Hospital, S-17176 Stockholm, Sweden
Fransson, I., Clinical Genetics Unit, Department of Molecular Medicine, Karolinska Hospital, S-17176 Stockholm, Sweden
Guilbaud, C., Clinical Genetics Unit, Department of Molecular Medicine, Karolinska Hospital, S-17176 Stockholm, Sweden
Collins, J.E., Sanger Centre, Wellcome Trust Genome Campus, Hinxton, Cambs. CB10 1SA, United Kingdom
Dunham, I., Sanger Centre, Wellcome Trust Genome Campus, Hinxton, Cambs. CB10 1SA, United Kingdom
Blennow, E., Clinical Genetics Unit, Department of Molecular Medicine, Karolinska Hospital, S-17176 Stockholm, Sweden
Roe, B.A., Department of Chemistry, University of Oklahoma, 620 Parrington Oval, Norman, OK 73019-0370, United States
Piehl, F., Department of Neuroscience, Karolinska Institute, S-171 77 Stockholm, Sweden
Dumanski, J.P., Clinical Genetics Unit, Department of Molecular Medicine, Karolinska Hospital, S-17176 Stockholm, Sweden
Characterization of the human synaptogyrin gene family
Genomic sequencing was combined with searches of databases for identification of active genes on human chromosome 22. A cosmid from 22q13, located in the telomeric vicinity of the PDGFB (platelet-derived growth factor B-chain) gene, was fully sequenced. Using an expressed sequence tag-based approach we characterized human (SYNGR1) and mouse (Syngr1) orthologs of the previously cloned rat synaptogyrin gene (RATSYNGR1). The human SYNGR1 gene reveals three (SYNGR1a, SYNGR1b, SYNGR1c) alternative transcript forms of 4.5, 1.3 and 0.9 kb, respectively. The transcription of SYNGR1 starts from two different promoters, and leads to predicted proteins with different N- and C-terminal ends. The most abundant SYNGR1a transcript, the 4.5-kb form, which corresponds to RATSYNGR1, is highly expressed in neurons of the central nervous system and at much lower levels in other tissues, as determined by in situ hybridization histochemistry. The levels of SYNGR1b and SYNGR1c transcripts are low and limited to heart, skeletal muscle, ovary and fetal liver. We also characterized two additional members of this novel synaptogyrin gene family in human (SYNGR2 and SYNGR3), and one in mouse (Syngr2). The human SYNGR2 gene transcript of 1.6 kb is expressed at high levels in all tissues, except brain. The 2.2-kb SYNGR3 transcript was detected in brain and placenta only. The human SYNGR2 and SYNGR3 genes were mapped by fluorescence in situ hybridization to 17qtel and 16ptel, respectively. The human SYNGR2 gene has a processed pseudogene localized in 15q11. All predicted synaptogyrin proteins contain four strongly conserved transmembrane domains, which is consistent with the M-shaped topology. The C-terminal polypeptide ends are variable in length, display a low degree of sequence similarity between family members, and are therefore likely to convey the functional specificity of each protein.
Scientific Publication
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