16p11.2 CNV gene Doc2α functions in neurodevelopment and social behaviors through interaction with Secretagogin

Weiss, 2008, Association between microdeletion and microduplication at 16p11.2 and autism, N. Engl. J. Med., 358, 667, 10.1056/NEJMoa075974 D'Angelo, 2016, Defining the effect of the 16p11.2 duplication on cognition, behavior, and medical comorbidities, JAMA Psychiatr., 73, 20, 10.1001/jamapsychiatry.2015.2123 Hippolyte, 2016, The number of genomic copies at the 16p11.2 locus modulates language, verbal memory, and inhibition, Biol. Psychiatry, 80, 129, 10.1016/j.biopsych.2015.10.021 Demopoulos, 2018, Abnormal speech motor control in individuals with 16p11.2 deletions, Sci. Rep., 8, 1274, 10.1038/s41598-018-19751-x Rein, 2020, 16p11.2 copy number variations and neurodevelopmental disorders, Trends Neurosci., 43, 886, 10.1016/j.tins.2020.09.001 Portmann, 2014, Behavioral abnormalities and circuit defects in the basal ganglia of a mouse model of 16p11.2 deletion syndrome, Cell Rep., 7, 1077, 10.1016/j.celrep.2014.03.036 Horev, 2011, Dosage-dependent phenotypes in models of 16p11.2 lesions found in autism, Proc. Natl. Acad. Sci. USA, 108, 17076, 10.1073/pnas.1114042108 Arbogast, 2016, Reciprocal effects on neurocognitive and metabolic phenotypes in mouse models of 16p11.2 deletion and duplication syndromes, PLoS Genet., 12, e1005709, 10.1371/journal.pgen.1005709 Yadav, 2017, TAOK2 kinase mediates PSD95 stability and dendritic spine maturation through septin7 phosphorylation, Neuron, 93, 379, 10.1016/j.neuron.2016.12.006 Arbogast, 2019, Kctd13-deficient mice display short-term memory impairment and sex-dependent genetic interactions, Hum. Mol. Genet., 28, 1474, 10.1093/hmg/ddy436 Steinman, 2016, 16p11.2 deletion and duplication: Characterizing neurologic phenotypes in a large clinically ascertained cohort, Am. J. Med. Genet., 170, 2943, 10.1002/ajmg.a.37820 Pucilowska, 2015, The 16p11.2 deletion mouse model of autism exhibits altered cortical progenitor proliferation and brain cytoarchitecture linked to the ERK MAPK pathway, J. Neurosci., 35, 3190, 10.1523/JNEUROSCI.4864-13.2015 Filges, 2014, Brain MRI abnormalities and spectrum of neurological and clinical findings in three patients with proximal 16p11.2 microduplication, Am. J. Med. Genet., 164a, 2003, 10.1002/ajmg.a.36605 Park, 2016, Drosophila homolog of human KIF22 at the autism-linked 16p11.2 loci influences synaptic connectivity at larval neuromuscular junctions, Exp. Neurobiol., 25, 33, 10.5607/en.2016.25.1.33 Betancur, 2009, The emerging role of synaptic cell-adhesion pathways in the pathogenesis of autism spectrum disorders, Trends Neurosci., 32, 402, 10.1016/j.tins.2009.04.003 Bourgeron, 2009, A synaptic trek to autism, Curr. Opin. Neurobiol., 19, 231, 10.1016/j.conb.2009.06.003 Südhof, 2017, Synaptic neurexin complexes: a molecular code for the logic of neural circuits, Cell, 171, 745, 10.1016/j.cell.2017.10.024 Braida, 2015, Association between SNAP-25 gene polymorphisms and cognition in autism: functional consequences and potential therapeutic strategies, Transl. Psychiatry, 5, e500, 10.1038/tp.2014.136 Orita, 1995, Doc2: a novel brain protein having two repeated C2-like domains, Biochem. Biophys. Res. Commun., 206, 439, 10.1006/bbrc.1995.1062 Sakaguchi, 1995, Molecular cloning of an isoform of Doc2 having two C2-like domains, Biochem. Biophys. Res. Commun., 217, 1053, 10.1006/bbrc.1995.2876 Groffen, 2010, Doc2b is a high-affinity Ca2+ sensor for spontaneous neurotransmitter release, Science, 327, 1614, 10.1126/science.1183765 Kojima, 1996, Calcium-dependent phospholipid binding to the C2A domain of a ubiquitous form of double C2 protein (Doc2 beta), J. Biochem., 120, 671, 10.1093/oxfordjournals.jbchem.a021464 Yao, 2011, Doc2 is a Ca2+ sensor required for asynchronous neurotransmitter release, Cell, 147, 666, 10.1016/j.cell.2011.09.046 Pang, 2011, Doc2 supports spontaneous synaptic transmission by a Ca(2+)-independent mechanism, Neuron, 70, 244, 10.1016/j.neuron.2011.03.011 Courtney, 2018, Excitatory and inhibitory neurons utilize different Ca(2+) sensors and sources to regulate spontaneous release, Neuron, 98, 977, 10.1016/j.neuron.2018.04.022 Wagner, 2000, Cloning and expression of secretagogin, a novel neuroendocrine- and pancreatic islet of Langerhans-specific Ca2+-binding protein, J. Biol. Chem., 275, 24740, 10.1074/jbc.M001974200 Rogstam, 2007, Binding of calcium ions and SNAP-25 to the hexa EF-hand protein secretagogin, Biochem. J., 401, 353, 10.1042/BJ20060918 Birkenkamp-Demtröder, 2005, Secretagogin is a novel marker for neuroendocrine differentiation, Neuroendocrinology, 82, 121, 10.1159/000091207 Yang, 2016, Secretagogin affects insulin secretion in pancreatic beta-cells by regulating actin dynamics and focal adhesion, Biochem. J., 473, 1791, 10.1042/BCJ20160137 Malenczyk, 2017, A TRPV1-to-secretagogin regulatory axis controls pancreatic beta-cell survival by modulating protein turnover, EMBO J., 36, 2107, 10.15252/embj.201695347 Mulder, 2009, Secretagogin is a Ca2+-binding protein specifying subpopulations of telencephalic neurons, Proc. Natl. Acad. Sci. USA, 106, 22492, 10.1073/pnas.0912484106 Hanics, 2017, Secretagogin-dependent matrix metalloprotease-2 release from neurons regulates neuroblast migration, Proc. Natl. Acad. Sci. USA, 114, E2006, 10.1073/pnas.1700662114 Romanov, 2015, A secretagogin locus of the mammalian hypothalamus controls stress hormone release, EMBO J., 34, 36, 10.15252/embj.201488977 Qin, 2020, Structural and mechanistic insights into secretagogin-mediated exocytosis, Proc. Natl. Acad. Sci. USA, 117, 6559, 10.1073/pnas.1919698117 Barkus, 2010, Hippocampal NMDA receptors and anxiety: At the interface between cognition and emotion, Eur. J. Pharmacol., 626, 49, 10.1016/j.ejphar.2009.10.014 Liu, 2012, Optogenetic stimulation of a hippocampal engram activates fear memory recall, Nature, 484, 381, 10.1038/nature11028 Backus, 2016, Hippocampal-prefrontal theta oscillations support memory integration, Curr. Biol., 26, 450, 10.1016/j.cub.2015.12.048 Amilhon, 2015, Parvalbumin interneurons of hippocampus tune population activity at theta frequency, Neuron, 86, 1277, 10.1016/j.neuron.2015.05.027 Buzsáki, 1998, Memory consolidation during sleep: a neurophysiological perspective, J. Sleep Res., 7, 17, 10.1046/j.1365-2869.7.s1.3.x Colgin, 2013, Mechanisms and functions of theta rhythms, Annu. Rev. Neurosci., 36, 295, 10.1146/annurev-neuro-062012-170330 Trimper, 2014, Recognition memory and theta-gamma interactions in the hippocampus, Hippocampus, 24, 341, 10.1002/hipo.22228 Yun, 2012, Interpersonal body and neural synchronization as a marker of implicit social interaction, Sci. Rep., 2, 959, 10.1038/srep00959 Seidenbecher, 2003, Amygdalar and hippocampal theta rhythm synchronization during fear memory retrieval, Science, 301, 846, 10.1126/science.1085818 Silverman, 2010, Behavioural phenotyping assays for mouse models of autism, Nat. Rev. Neurosci., 11, 490, 10.1038/nrn2851 Grabrucker, 2016, Gender dependent evaluation of autism like behavior in mice exposed to prenatal zinc deficiency, Front. Behav. Neurosci., 10, 37, 10.3389/fnbeh.2016.00037 Moretti, 2005, Abnormalities of social interactions and home-cage behavior in a mouse model of Rett syndrome, Hum. Mol. Genet., 14, 205, 10.1093/hmg/ddi016 Deacon, 2006, Assessing nest building in mice, Nat. Protoc., 1, 1117, 10.1038/nprot.2006.170 Pignataro, 2013, Indistinguishable pattern of amygdala and hippocampus rewiring following tone or contextual fear conditioning in C57BL/6 mice, Front. Behav. Neurosci., 7, 156, 10.3389/fnbeh.2013.00156 Calandreau, 2006, Extracellular hippocampal acetylcholine level controls amygdala function and promotes adaptive conditioned emotional response, J. Neurosci., 26, 13556, 10.1523/JNEUROSCI.3713-06.2006 Bauer, 2011, Identification of a high-affinity network of secretagogin-binding proteins involved in vesicle secretion, Mol. Biosyst., 7, 2196, 10.1039/c0mb00349b Alhowikan, 2017, Secretagogin (SCGN) plasma levels and their association with cognitive and social behavior in children with autism spectrum disorder ASD), J. Coll. Physicians Surg. Pak., 27, 222 Zaslavsky, 2019, SHANK2 mutations associated with autism spectrum disorder cause hyperconnectivity of human neurons, Nat. Neurosci., 22, 556, 10.1038/s41593-019-0365-8 Marchetto, 2017, Altered proliferation and networks in neural cells derived from idiopathic autistic individuals, Mol. Psychiatry, 22, 820, 10.1038/mp.2016.95 Irimia, 2014, A highly conserved program of neuronal microexons is misregulated in autistic brains, Cell, 159, 1511, 10.1016/j.cell.2014.11.035 Raju, 2018, Secretagogin is expressed by developing neocortical GABAergic neurons in humans but not mice and increases neurite arbor size and complexity, Cereb. Cortex, 28, 1946, 10.1093/cercor/bhx101 Alzu'bi, 2020, Multiple origins of secretagogin expressing cortical GABAergic neuron precursors in the early human fetal telencephalon, Front. Neuroanat., 14, 61, 10.3389/fnana.2020.00061 Sato, 2010, Role of the polybasic sequence in the Doc2alpha C2B domain in dense-core vesicle exocytosis in PC12 cells, J. Neurochem., 114, 171, 10.1111/j.1471-4159.2010.06739.x Orita, 1996, Doc2 enhances Ca2+-dependent exocytosis from PC12 cells, J. Biol. Chem., 271, 7257, 10.1074/jbc.271.13.7257 Malmgren, 1992, Infantile autism--fragile X: molecular findings support genetic heterogeneity, Am. J. Med. Genet., 44, 830, 10.1002/ajmg.1320440624 Durand, 2007, Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders, Nat. Genet., 39, 25, 10.1038/ng1933 Peça, 2011, Shank3 mutant mice display autistic-like behaviours and striatal dysfunction, Nature, 472, 437, 10.1038/nature09965 Spencer, 2005, Altered anxiety-related and social behaviors in the Fmr1 knockout mouse model of fragile X syndrome, Genes Brain Behav., 4, 420, 10.1111/j.1601-183X.2005.00123.x Bijlsma, 2009, Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals, Eur. J. Med. Genet., 52, 77, 10.1016/j.ejmg.2009.03.006 Hazlett, 2017, Early brain development in infants at high risk for autism spectrum disorder, Nature, 542, 348, 10.1038/nature21369 Courchesne, 2003, Evidence of brain overgrowth in the first year of life in autism, JAMA, 290, 337, 10.1001/jama.290.3.337 Munson, 2006, Amygdalar volume and behavioral development in autism, Arch. Gen. Psychiatry, 63, 686, 10.1001/archpsyc.63.6.686 Buchsbaum, 1989, Regional cerebral glucose metabolic rate in human sleep assessed by positron emission tomography, Life Sci., 45, 1349, 10.1016/0024-3205(89)90021-0 Schumann, 2006, Stereological analysis of amygdala neuron number in autism, J. Neurosci., 26, 7674, 10.1523/JNEUROSCI.1285-06.2006 Mouchati, 2019, Functional brain connectivity in a rodent seizure model of autistic-like behavior, Epilepsy Behav., 95, 87, 10.1016/j.yebeh.2019.03.046 Mu, 2020, A limbic circuitry involved in emotional stress-induced grooming, Nat. Commun., 11, 2261, 10.1038/s41467-020-16203-x Felix-Ortiz, 2014, Amygdala inputs to the ventral hippocampus bidirectionally modulate social behavior, J. Neurosci., 34, 586, 10.1523/JNEUROSCI.4257-13.2014 Bertoni, 2021, Oxytocin administration in neonates shapes hippocampal circuitry and restores social behavior in a mouse model of autism, Mol. Psychiatry, 26, 7582, 10.1038/s41380-021-01227-6 Hitti, 2014, The hippocampal CA2 region is essential for social memory, Nature, 508, 88, 10.1038/nature13028 Revest, 2009, Adult hippocampal neurogenesis is involved in anxiety-related behaviors, Mol. Psychiatry, 14, 959, 10.1038/mp.2009.15 Segi-Nishida, 2022, Regulation of adult-born and mature neurons in stress response and antidepressant action in the dentate gyrus of the hippocampus, Neurosci. Res., 10.1016/j.neures.2022.08.010 Botterill, 2021, Bidirectional regulation of cognitive and anxiety-like behaviors by dentate gyrus mossy cells in male and female mice, J. Neurosci., 41, 2475, 10.1523/JNEUROSCI.1724-20.2021 Zheng, 2018, CRISPR interference-based specific and efficient gene inactivation in the brain, Nat. Neurosci., 21, 447, 10.1038/s41593-018-0077-5 Sifuentes-Dominguez, 2019, SCGN deficiency results in colitis susceptibility, Elife, 8, e49910, 10.7554/eLife.49910 Jin, 2010, Start/stop signals emerge in nigrostriatal circuits during sequence learning, Nature, 466, 457, 10.1038/nature09263 Mansour, 2018, An in vivo model of functional and vascularized human brain organoids, Nat. Biotechnol., 36, 432, 10.1038/nbt.4127 Lu, 2021, miR-218-2 regulates cognitive functions in the hippocampus through complement component 3-dependent modulation of synaptic vesicle release, Proc. Natl. Acad. Sci. USA, 118, 10.1073/pnas.2021770118