ArticleMolecular psychiatry2001
Mutation analysis of SYNJ1: a possible candidate gene for chromosome 21q22-linked bipolar disorder.
Article in Molecular psychiatry, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 59 citations in OpenAlex.
- Haploinsufficiency of the Parkinson's disease gene synaptojanin1 is associated with abnormal responses to psychomotor stimulants and mesolimbic dopamine signaling.Frontiers in behavioral neuroscience · 2024Article
- Cocaine-regulated trafficking of dopamine transporters in cultured neurons revealed by a pH sensitive reporter.iScience · 2023Article
- Triplication ofCurrent Alzheimer research · 2022Article
- Mini-review: Synaptojanin 1 and its implications in membrane trafficking.Neuroscience letters · 2021Review
- Combinatorial patterns of gene expression changes contribute to variable expressivity of the developmental delay-associated 16p12.1 deletion.Genome medicine · 2021Article
- NaJournal of neural transmission (Vienna, Austria : 1996) · 2021Review
- PERK-Mediated Unfolded Protein Response Activation and Oxidative Stress in PARK20 Fibroblasts.Frontiers in neuroscience · 2019Article
- A Genome-Wide Association Study and Complex Network Identify Four Core Hub Genes in Bipolar Disorder.International journal of molecular sciences · 2017Article
- Synaptic Vesicle-Recycling Machinery Components as Potential Therapeutic Targets.Pharmacological reviews · 2017Review
- A novel relationship for schizophrenia, bipolar and major depressive disorder Part 5: a hint from chromosome 5 high density association screen.American journal of translational research · 2017Article
- The structure of phosphoinositide phosphatases: Insights into substrate specificity and catalysis.Biochimica et biophysica acta · 2015Review
- Cellular and molecular interactions of phosphoinositides and peripheral proteins.Chemistry and physics of lipids · 2014Review
- Synaptojanin 1 mutation in Parkinson's disease brings further insight into the neuropathological mechanisms.BioMed research international · 2014Review
- The Sac domain-containing phosphoinositide phosphatases: structure, function, and disease.Frontiers in biology · 2013Article
- G proteins, p60TRP, and neurodegenerative diseases.Molecular neurobiology · 2013Review
- Hypothesis review: are clathrin-mediated endocytosis and clathrin-dependent membrane and protein trafficking core pathophysiological processes in schizophrenia and bipolar disorder?Molecular psychiatry · 2012Review
- Synaptic polarity depends on phosphatidylinositol signaling regulated by myo-inositol monophosphatase in Caenorhabditis elegans.Genetics · 2012Article
- Endocytosis and signaling: cell logistics shape the eukaryotic cell plan.Physiological reviews · 2012Review
- Describing the hexapeptide identity platform between the influenza A H5N1 and Homo sapiens proteomes.Biologics : targets & therapy · 2010Article
- Mutations in phosphoinositide metabolizing enzymes and human disease.Physiology (Bethesda, Md.) · 2009Review
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
Abstract
Genes involved in the regulation of synaptic vesicle function are potential candidates for the development of psychiatric disorders. In addition to experimental and theoretical considerations, a number of genes involved in synaptic vesicle function map to regions of the genome that have been linked to bipolar disorder (BPD) and schizophrenia (SZ). One is synaptojanin 1 (SYNJ1) which maps to 21q22.2, a chromosomal region that has been linked to BPD in a subset of families in several studies. Synaptojanin 1 is an inositol 5-phosphatase that has an important role in synaptic vesicle endocytosis. Mutation screening of 32 exons, intron--exon junctions, and 839 bases of 5'-flanking DNA resulted in the identification of 11 mutations of which four were very common and seven were very rare. Of the 11 mutations identified, several may have functional significance including two coding variants, two that may affect the binding of a transcription factor, and two that involve known splicing regulatory domains. Five bipolar patients out of 149 analyzed were found who have one of the four rare variants that were most likely to have functional significance compared with 0/148 controls. The allele frequencies for three of the four common variants were very similar in bipolar patients and controls. A slight difference in allele frequency was found for an interesting mutation we detected in intron 12 in which two non-adjacent thymidine residues are deleted in a poly-AT tract located near the exon 12 splice donor site (chi(2) = 2.45, P = 0.12, 2-tailed). Although we failed to unequivocally identify a specific SYNJ1 allele that could be responsible for putative chromosome 21q22-linked BPD, several interesting variants were found to be increased in bipolar subjects and should be further investigated.
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