Protein kinase A-dependent phosphorylation of B/K protein

Chin, Hemin; Choi, Sung Ho; Jang, Yong Suk; Cho, Sung Min; Kim, Ho Shik; Lee, Jeong Hwa; Jeong, Seong Whan; Kim, In Kyung; Kim, Grace J; Kwon, Oh Joo

doi:10.1038/emm.2006.18

Cited by 7 publications

(7 citation statements)

References 35 publications

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“…The secondary 16p12.3 peak lies over another candidate gene, SYT17 (synaptotagmin17), which is abundantly expressed in frontal and temporal lobes (Chin et al . ). The 16p11‐p13 region has been previously linked to dyslexia in two microsatellite genome‐wide scans (16p12.2, D16S3046, lod 2.2–2.4, Loo et al .…”

Section: Discussionmentioning

confidence: 97%

“…Protein kinase C is known to regulate cognitive functioning in the prefrontal cortex (Chen et al 2009) (note also PRKCE at 2p21 linkage region; Table 1). The secondary 16p12.3 peak lies over another candidate gene, SYT17 (synaptotagmin17), which is abundantly expressed in frontal and temporal lobes (Chin et al 2006). The 16p11-p13 region has been previously linked to dyslexia in two microsatellite genome-wide scans (16p12.2, D16S3046, lod 2.2-2.4, Loo et al 2004;16p11.2, D16S753, lod 2.9, Raskind et al 2005), to ADHD in two scans (16p13, lod 3.7, Ogdie et al 2004;16p13, lod 2.4, Gayan et al 2005) and to autism (16p13, D16S3102, lod 2.9, IMGSAC 2001).…”

Section: Putative Linkage Regions (Lod >23)mentioning

confidence: 99%

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Dense‐map genome scan for dyslexia supports loci at 4q13, 16p12, 17q22; suggests novel locus at 7q36

Field

Shumansky

Ryan

et al. 2012

Genes Brain and Behavior

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Analysis of genetic linkage to dyslexia was performed using 133,165 array-based SNPs genotyped in 718 persons from 101 dyslexia-affected families. Results showed five linkage peaks with lod scores >2.3 (4q13.1, 7q36.1-q36.2, 7q36.3, 16p12.1, and 17q22). Of these five regions, three have been previously implicated in dyslexia (4q13.1, 16p12.1, and 17q22), three have been implicated in attention-deficit hyperactivity disorder (ADHD, which highly co-occurs with dyslexia; 4q13.1, 7q36.3, 16p12.1) and four have been implicated in autism (a condition characterized by language deficits; 7q36.1-q36.2, 7q36.3, 16p12.1, and 17q22). These results highlight the reproducibility of dyslexia linkage signals, even without formally significant lod scores, and suggest dyslexia predisposing genes with relatively major effects and locus heterogeneity. The largest lod score (2.80) occurred at 17q22 within the MSI2 gene, involved in neuronal stem cell lineage proliferation. Interestingly, the 4q13.1 linkage peak (lod 2.34) occurred immediately upstream of the LPHN3 gene, recently reported both linked and associated with ADHD. Separate analyses of larger pedigrees revealed lods >2.3 at 1-3 regions per family; one family showed strong linkage (lod 2.9) to a known dyslexia locus (18p11) not detected in our overall data, demonstrating the value of analyzing single large pedigrees. Association analysis identified no SNPs with genomewide significance, although a borderline significant SNP (P = 6 × 10 -7 ) occurred at 5q35.1 near FGF18, involved in laminar positioning of cortical neurons during development. We conclude that dyslexia genes with relatively major effects exist, are detectable by linkage analysis despite genetic heterogeneity, and show substantial overlapping predisposition with ADHD and autism.

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Section: Discussionmentioning

confidence: 97%

Section: Putative Linkage Regions (Lod >23)mentioning

confidence: 99%

Dense‐map genome scan for dyslexia supports loci at 4q13, 16p12, 17q22; suggests novel locus at 7q36

Field

Shumansky

Ryan

et al. 2012

Genes Brain and Behavior

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“…Calcium binding to synaptotagmin I participates in triggering neurotransmitter release at the synapse [Fernandez-Chacon et al, 2001]. SYT17 is a protein''B/K'' isoform expressed strongly in the frontal and temporal lobes, the hippocampus, the hypothalamus, the amygdala, the substantia nigra, and the pituitary [Chin et al, 2006]. Interestingly, another member of this family of genes, the synaptotagmin 4 (SYT4), maps to 18q12.2, a region that we [Maziade et al, 2005] and others have shown to be linked to BP and SZ.…”

Section: Discussionmentioning

confidence: 99%

Replication of linkage with bipolar disorder on chromosome 16p in the eastern Quebec population

Mérette

Roy

Bureau

et al. 2008

American J of Med Genetics Pt B

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In a previous study [Maziade et al. (2005); Mol Psychiatry 10:486-499], we provided evidence for linkage (parametric lod score of 4.05) on chromosome 16p for bipolar affective disorder (BP) in 21 kindreds from Eastern Quebec, a population characterized by a founder effect. Using a stringent design, we performed a replication study in a second sample of 27 kindreds (sample 2) collected from the same population and assessed with the same methodologies as in our original sample (sample 1), that is with the same diagnostic procedure and using a common set of 23 markers studied with model-based (parametric) and model-free (nonparametric) linkage analyses. We replicated our initial finding with P values <0.001. Indeed, maximum NPL(all) scores of 3.7 and 3.52 were found at marker D16S3060 in sample 2 for the narrow and broad BP phenotype definition, respectively. For the latter definition, the nonparametric score reached 3.87 in the combined sample, a value that exceeded the maximum NPL score obtained in each individual sample (NPL(all) = 2.32 in sample 1; NPL(all) = 3.52 in sample 2). Moreover, a refined phenotype restricted to BP associated with psychosis yielded significant evidence for linkage in each individual sample (NPL(all) = 2.38 in sample 1; NPL(all) = 2.72) while yielding the best result (NPL(all) score = 3.90) in the combined sample (samples 1 and 2), despite an important reduction in the number of affected individuals. It is also noteworthy that the use of the refined phenotype provided a location of the maximum linkage peak shared by both samples, that is, at marker D16S668 in 16p13.12, suggesting consistency across samples. Our study provided one of the strongest pieces of evidence for linkage with BP in 16p and illustrated the heuristic potential of a replication study in a second sample ascertained from the same population and using homogeneous methodologies.

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“…Synaptotagmin XVII (B/K protein) has been found in the ER in rat hippocampus (Jang et al. 2004) and revealed an abundant presence in the brain, kidney and prostate (Chin et al. 2006).…”

Section: Novel Candidatesmentioning

confidence: 99%

The synaptic vesicle proteome

Burré

Volknandt

2007

Journal of Neurochemistry

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Synaptic vesicles are key organelles in neurotransmission. Vesicle integral or membrane-associated proteins mediate the various functions the organelle fulfills during its life cycle. These include organelle transport, interaction with the nerve terminal cytoskeleton, uptake and storage of low molecular weight constituents, and the regulated interaction with the pre-synaptic plasma membrane during exo-and endocytosis. Within the past two decades, converging work from several laboratories resulted in the molecular and functional characterization of the proteinaceous inventory of the synaptic vesicle compartment. However, up until recently and due to technical difficulties, it was impossible to screen the entire organelle thoroughly. Recent advances in membrane protein identification and mass spectrometry (MS) have dramatically promoted this field. A comparison of different techniques for elucidating the proteinaceous composition of synaptic vesicles revealed numerous overlaps but also remarkable differences in the protein constituents of the synaptic vesicle compartment, indicating that several protein separation techniques in combination with differing MS approaches are required to identify and characterize the synaptic vesicle proteome. This review highlights the power of various gel separation techniques and MS analyses for the characterization of the proteome of highly purified synaptic vesicles. Furthermore, the newly detected protein assignments to synaptic vesicles, especially those proteins which are new to the inventory of the synaptic vesicle proteome, are critically discussed.

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Protein kinase A-dependent phosphorylation of B/K protein

Cited by 7 publications

References 35 publications

Dense‐map genome scan for dyslexia supports loci at 4q13, 16p12, 17q22; suggests novel locus at 7q36

Dense‐map genome scan for dyslexia supports loci at 4q13, 16p12, 17q22; suggests novel locus at 7q36

Replication of linkage with bipolar disorder on chromosome 16p in the eastern Quebec population

The synaptic vesicle proteome

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