SYNE1

Summary

Gene Symbol: SYNE1
Description: spectrin repeat containing nuclear envelope protein 1
Alias: ARCA1, C6orf98, CPG2, EDMD4, KASH1, MYNE1, Nesp1, SCAR8, dJ45H2.2, nesprin-1, CPG2 full length, KASH domain-containing protein 1, enaptin, myocyte nuclear envelope protein 1, nesprin 1, spectrin repeat containing, nuclear envelope 1, synaptic nuclear envelope protein 1, synaptic nuclei expressed gene 1
Species: human
Products:     SYNE1

Top Publications

  1. Padmakumar V, Abraham S, Braune S, Noegel A, Tunggal B, Karakesisoglou I, et al. Enaptin, a giant actin-binding protein, is an element of the nuclear membrane and the actin cytoskeleton. Exp Cell Res. 2004;295:330-9 pubmed
    b>Enaptin belongs to a family of recently identified giant proteins that associate with the F-actin cytoskeleton as well as the nuclear membrane...
  2. Stewart Hutchinson P, Hale C, Wirtz D, Hodzic D. Structural requirements for the assembly of LINC complexes and their function in cellular mechanical stiffness. Exp Cell Res. 2008;314:1892-905 pubmed publisher
  3. Schirmer E, Florens L, Guan T, Yates J, Gerace L. Nuclear membrane proteins with potential disease links found by subtractive proteomics. Science. 2003;301:1380-2 pubmed
    ..Furthermore, 23 of these mapped within chromosome regions linked to a variety of dystrophies. ..
  4. Zhang Q, Bethmann C, Worth N, Davies J, Wasner C, Feuer A, et al. Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity. Hum Mol Genet. 2007;16:2816-33 pubmed
    ..Screening for DNA variations in the genes encoding nesprin-1 (SYNE1) and nesprin-2 (SYNE2) in 190 probands with EDMD or EDMD-like phenotypes identified four heterozygous missense ..
  5. Marme A, Zimmermann H, Moldenhauer G, Schorpp Kistner M, Müller C, Keberlein O, et al. Loss of Drop1 expression already at early tumor stages in a wide range of human carcinomas. Int J Cancer. 2008;123:2048-56 pubmed publisher
    ..The mRNA is encoded by a set of exons in the 5' region of the SYNE1 gene...
  6. Randles K, Lam L, Sewry C, Puckelwartz M, Furling D, Wehnert M, et al. Nesprins, but not sun proteins, switch isoforms at the nuclear envelope during muscle development. Dev Dyn. 2010;239:998-1009 pubmed publisher
    ..The results suggest the possibility of isoform-specific and tissue-specific roles for nesprins in nuclear positioning. ..
  7. Sosa B, Rothballer A, Kutay U, Schwartz T. LINC complexes form by binding of three KASH peptides to domain interfaces of trimeric SUN proteins. Cell. 2012;149:1035-47 pubmed publisher
    ..We present crystal structures of the human SUN2-KASH1/2 complex, the core of the LINC complex...
  8. Rajgor D, Mellad J, Autore F, Zhang Q, Shanahan C. Multiple novel nesprin-1 and nesprin-2 variants act as versatile tissue-specific intracellular scaffolds. PLoS ONE. 2012;7:e40098 pubmed publisher
    ..These alternate functions may also account for the diverse range of disease phenotypes observed when these genes are mutated. ..
  9. Rajgor D, Mellad J, Soong D, Rattner J, Fritzler M, Shanahan C. Mammalian microtubule P-body dynamics are mediated by nesprin-1. J Cell Biol. 2014;205:457-75 pubmed publisher
    ..However, isoforms that function beyond the nuclear envelope remain poorly examined. Here, we characterize p50(Nesp1), a 50-kD isoform that localizes to processing bodies (PBs), where it acts as a microtubule-associated protein ..

More Information

Publications125 found, 100 shown here

  1. Apel E, Lewis R, Grady R, Sanes J. Syne-1, a dystrophin- and Klarsicht-related protein associated with synaptic nuclei at the neuromuscular junction. J Biol Chem. 2000;275:31986-95 pubmed
    ..Finally, we identify a homologous gene, syne-2, that is expressed in an overlapping but distinct pattern. ..
  2. Mislow J, Holaska J, Kim M, Lee K, Segura Totten M, Wilson K, et al. Nesprin-1alpha self-associates and binds directly to emerin and lamin A in vitro. FEBS Lett. 2002;525:135-40 pubmed
    ..We propose that membrane-anchored nesprin-1alpha antiparallel dimers interact with both emerin and lamin A to provide scaffolding at the inner nuclear membrane. ..
  3. Attali R, Warwar N, Israel A, Gurt I, McNally E, Puckelwartz M, et al. Mutation of SYNE-1, encoding an essential component of the nuclear lamina, is responsible for autosomal recessive arthrogryposis. Hum Mol Genet. 2009;18:3462-9 pubmed publisher
    ..These data indicate that mutations of nesprin-1 which interacts with lamin A/C may lead to at least two distinct human disease phenotypes, myopathic or neurological, a feature similar to that found in laminopathies...
  4. Chancellor T, Lee J, Thodeti C, Lele T. Actomyosin tension exerted on the nucleus through nesprin-1 connections influences endothelial cell adhesion, migration, and cyclic strain-induced reorientation. Biophys J. 2010;99:115-23 pubmed publisher
    ..In the absence of nesprin-1, actomyosin tension is balanced by the substrate, leading to abnormal adhesion, migration, and cyclic strain-induced reorientation. ..
  5. Zhang Q, Ragnauth C, Greener M, Shanahan C, Roberts R. The nesprins are giant actin-binding proteins, orthologous to Drosophila melanogaster muscle protein MSP-300. Genomics. 2002;80:473-81 pubmed
  6. Gros Louis F, Dupre N, Dion P, Fox M, Laurent S, Verreault S, et al. Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia. Nat Genet. 2007;39:80-5 pubmed
    ..10). Here, we report a newly discovered form of recessive ataxia in a French-Canadian cohort and show that SYNE1 mutations are causative in all of our kindreds, making SYNE1 the first identified gene responsible for a ..
  7. Doherty J, Rossing M, Cushing Haugen K, Chen C, Van Den Berg D, Wu A, et al. ESR1/SYNE1 polymorphism and invasive epithelial ovarian cancer risk: an Ovarian Cancer Association Consortium study. Cancer Epidemiol Biomarkers Prev. 2010;19:245-50 pubmed publisher
    ..is a nonsynonymous coding SNP in a neighboring gene called spectrin repeat containing, nuclear envelope 1 (SYNE1), which is involved in nuclear organization and structural integrity, function of the Golgi apparatus, and ..
  8. Zhang Q, Skepper J, Yang F, Davies J, Hegyi L, Roberts R, et al. Nesprins: a novel family of spectrin-repeat-containing proteins that localize to the nuclear membrane in multiple tissues. J Cell Sci. 2001;114:4485-98 pubmed
    ..These data and structural analogies with other proteins suggest that nesprins may function as 'dystrophins of the nucleus' to maintain nuclear organization and structural integrity. ..
  9. Mislow J, Kim M, Davis D, McNally E. Myne-1, a spectrin repeat transmembrane protein of the myocyte inner nuclear membrane, interacts with lamin A/C. J Cell Sci. 2002;115:61-70 pubmed
    ..The muscle-specific inner nuclear envelope expression of myne-1, along with its interaction with lamin A/C, indicates that this gene is a potential mediator of cardiomyopathy and muscular dystrophy. ..
  10. Gough L, Fan J, Chu S, Winnick S, Beck K. Golgi localization of Syne-1. Mol Biol Cell. 2003;14:2410-24 pubmed
    ..We conclude that the Syne-1 gene is expressed in a variety of forms that are multifunctional and are capable of functioning at both the Golgi and the nuclear envelope, perhaps linking the two organelles during muscle differentiation. ..
  11. Padmakumar V, Libotte T, Lu W, Zaim H, Abraham S, Noegel A, et al. The inner nuclear membrane protein Sun1 mediates the anchorage of Nesprin-2 to the nuclear envelope. J Cell Sci. 2005;118:3419-30 pubmed
    ..Our findings propose a conserved nuclear anchorage mechanism between Caenorhabditis elegans and mammals and suggest a model in which Sun1 serves as a ;structural bridge' connecting the nuclear interior with the actin cytoskeleton. ..
  12. Kobayashi Y, Katanosaka Y, Iwata Y, Matsuoka M, Shigekawa M, Wakabayashi S. Identification and characterization of GSRP-56, a novel Golgi-localized spectrin repeat-containing protein. Exp Cell Res. 2006;312:3152-64 pubmed
    ..from a giant SR-containing protein, Syne-1 (synaptic nuclear envelope protein-1, also referred to as Nesprin-1 or Enaptin), predicted to be produced by alternative splicing...
  13. Wheeler M, Davies J, Zhang Q, Emerson L, Hunt J, Shanahan C, et al. Distinct functional domains in nesprin-1alpha and nesprin-2beta bind directly to emerin and both interactions are disrupted in X-linked Emery-Dreifuss muscular dystrophy. Exp Cell Res. 2007;313:2845-57 pubmed
  14. Ferreira M, O Donovan M, Meng Y, Jones I, Ruderfer D, Jones L, et al. Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder. Nat Genet. 2008;40:1056-8 pubmed publisher
    ..0 x 10(-8), rs1006737). Our results suggest that ion channelopathies may be involved in the pathogenesis of bipolar disorder. ..
  15. Puckelwartz M, Kessler E, Kim G, DeWitt M, Zhang Y, Earley J, et al. Nesprin-1 mutations in human and murine cardiomyopathy. J Mol Cell Cardiol. 2010;48:600-8 pubmed publisher
    ..These findings mirror what has been described from lamin A/C gene mutations and reinforce the importance of an intact nuclear membrane complex for a normally functioning heart. ..
  16. Martínez Vieyra I, Pacheco Tapia G, Reyes López C, Méndez Méndez J, Cerecedo D. Role of ?-Dystrobrevin in the differentiation process of HL-60 cells. Exp Cell Res. 2018;370:591-600 pubmed publisher
    ..Knockdown of ?-Db prevented nuclei lobulation, increased Lamin A/C and syne1 expression and augmented the roughness of derived neutrophil membrane and disturbed filopodia assembly...
  17. Schuurs Hoeijmakers J, Vulto van Silfhout A, Vissers L, van de Vondervoort I, van Bon B, de Ligt J, et al. Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing. J Med Genet. 2013;50:802-11 pubmed publisher
    ..In addition, we identified potentially pathogenic mutations in BCORL1 on the X-chromosome and in MCM3AP, PTPRT, SYNE1, and ZNF528 on autosomes...
  18. ÖzoÄŸuz A, Uyan Ã, Birdal G, Iskender C, Kartal E, Lahut S, et al. The distinct genetic pattern of ALS in Turkey and novel mutations. Neurobiol Aging. 2015;36:1764.e9-1764.e18 pubmed publisher
    ..6%) explained 3.7% of sALS in the population. Exome sequencing revealed mutations in OPTN, SPG11, DJ1, PLEKHG5, SYNE1, TRPM7, and SQSTM1 genes, many of them novel...
  19. Wilson M, Holzbaur E. Nesprins anchor kinesin-1 motors to the nucleus to drive nuclear distribution in muscle cells. Development. 2015;142:218-28 pubmed publisher
  20. Jamin Y, Eykyn T, Poon E, Springer C, Robinson S. Detection of the prodrug-activating enzyme carboxypeptidase G2 activity with chemical exchange saturation transfer magnetic resonance. Mol Imaging Biol. 2014;16:152-7 pubmed publisher
    ..transfer magnetic resonance (CEST-MR) to monitor the release of glutamate induced by carboxypeptidase G2 (CPG2), an enzyme utilized in cancer gene therapy...
  21. Fan R, Mao S, Zhong F, Gong M, Yin F, Hao L, et al. Association of AGTR1 Promoter Methylation Levels with Essential Hypertension Risk: A Matched Case-Control Study. Cytogenet Genome Res. 2015;147:95-102 pubmed publisher
    ..In addition, significantly lower CpG1 (p = 0.028) and higher CpG2 (p = 0.032) methylation levels were observed in males than in females...
  22. Chang Y, Lin H, Chiang Y, Chen C, Huang L, Wang W, et al. Targeted next-generation sequencing identified novel mutations in triple-negative myeloproliferative neoplasms. Med Oncol. 2017;34:83 pubmed publisher
    ..Other recurrent mutations were also identified including KMT2C, KMT2D, IRS2, SYNE1, PDE4DIP, SETD2, ATM, TNFAIP3 and CCND2...
  23. Yoshino Y, Kawabe K, Mori T, Mori Y, Yamazaki K, Numata S, et al. Low methylation rates of dopamine receptor D2 gene promoter sites in Japanese schizophrenia subjects. World J Biol Psychiatry. 2016;17:449-56 pubmed publisher
    ..The methylation rates were significantly lower in medicated (CpG2, P?<?0.0001; CpG4, P?=?0.013; CpG7, P?<?0.0001; and average: 12.9?±?1.8 vs. 14.1?±?2.2, P?=?0...
  24. Rathje M, Waxman H, Benoit M, Tammineni P, Leu C, Loebrich S, et al. Genetic variants in the bipolar disorder risk locus SYNE1 that affect CPG2 expression and protein function. Mol Psychiatry. 2019;: pubmed publisher
    ..association studies (GWAS) of neuropsychiatric disorders have identified a risk locus for BD containing the SYNE1 gene, a large gene encoding multiple proteins...
  25. Laqqan M, Solomayer E, Hammadeh M. Association between alterations in DNA methylation level of spermatozoa at CpGs dinucleotide and male subfertility problems. Andrologia. 2018;50: pubmed publisher
    ..showed that variation in methylation levels was found in more than one CpG: the DNA methylation levels in CpG1, CpG2 and CpG3 of the PRRC2A gene-related amplicon showed high significant differences in the case group compared to the ..
  26. Kölbel H, Abicht A, Schwartz O, Katona I, Paulus W, Neuen Jacob E, et al. Characteristic clinical and ultrastructural findings in nesprinopathies. Eur J Paediatr Neurol. 2019;23:254-261 pubmed publisher
    To define the neurological and neuropathological alterations caused by SYNE1 mutations. We describe 5 patients (3 males, 2 females; age 3-24 years) from 3 families...
  27. Schwartz C, Fischer M, Mamchaoui K, Bigot A, Lok T, Verdier C, et al. Lamins and nesprin-1 mediate inside-out mechanical coupling in muscle cell precursors through FHOD1. Sci Rep. 2017;7:1253 pubmed publisher
    ..The functional integrity of lamin and nesprin-1 is thus required to modulate the FHOD1 activity and the inside-out mechanical coupling that tunes the cell internal stiffness to match that of its soft, physiological-like environment. ..
  28. Dupre N, Gros Louis F, Chrestian N, Verreault S, Brunet D, de Verteuil D, et al. Clinical and genetic study of autosomal recessive cerebellar ataxia type 1. Ann Neurol. 2007;62:93-8 pubmed
    ..we performed detailed clinical history, neurological examination, brain imaging, nerve conduction studies, and SYNE1 mutation detection of all available subjects...
  29. Razafsky D, Hodzic D. A variant of Nesprin1 giant devoid of KASH domain underlies the molecular etiology of autosomal recessive cerebellar ataxia type I. Neurobiol Dis. 2015;78:57-67 pubmed publisher
    ..the whole coding sequence of Syne1/Nesprin1 have been linked to autosomal recessive cerebellar ataxia Type I (ARCA1). However, nothing is known about the molecular etiology of this late-onset debilitating pathology...
  30. Yang M, Yuan Z. A novel role of PRR14 in the regulation of skeletal myogenesis. Cell Death Dis. 2015;6:e1734 pubmed publisher
    Dysregulation of genes involved in organizing and maintaining nuclear structures, such as SYNE1, SYNE2, TREM43, EMD and LMNA is frequently associated with diverse diseases termed laminopathies, which often affect the muscle tissue...
  31. Liu G, Ji H, Liu J, Xu C, Chang L, Cui W, et al. Association of OPRK1 and OPRM1 methylation with mild cognitive impairment in Xinjiang Han and Uygur populations. Neurosci Lett. 2017;636:170-176 pubmed publisher
    ..Meanwhile, OPRM1 CpG1 hypermethylation and CpG2-4 hypomethylation were associated with MCI risk in Xinjiang Uygur and Han, respectively...
  32. Yachnin B, Khare S. Engineering carboxypeptidase G2 circular permutations for the design of an autoinhibited enzyme. Protein Eng Des Sel. 2017;30:321-331 pubmed publisher
    Carboxypeptidase G2 (CPG2) is an Food and Drug Administration (FDA)-approved enzyme drug used to treat methotrexate (MTX) toxicity in cancer patients receiving MTX treatment...
  33. Synofzik M, Smets K, Mallaret M, Di Bella D, Gallenmüller C, Baets J, et al. SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study. Brain. 2016;139:1378-93 pubmed publisher
    Mutations in the synaptic nuclear envelope protein 1 (SYNE1) gene have been reported to cause a relatively pure, slowly progressive cerebellar recessive ataxia mostly identified in Quebec, Canada...
  34. Potter C, Razafsky D, Wozniak D, Casey M, Penrose S, Ge X, et al. The KASH-containing isoform of Nesprin1 giant associates with ciliary rootlets of ependymal cells. Neurobiol Dis. 2018;115:82-91 pubmed publisher
    Biallelic nonsense mutations of SYNE1 underlie a variable array of cerebellar and non-cerebellar pathologies of unknown molecular etiology...
  35. Lotan A, Fenckova M, Bralten J, Alttoa A, Dixson L, Williams R, et al. Neuroinformatic analyses of common and distinct genetic components associated with major neuropsychiatric disorders. Front Neurosci. 2014;8:331 pubmed publisher
    ..to five of six disorders-included ANK3, AS3MT, CACNA1C, CACNB2, CNNM2, CSMD1, DPCR1, ITIH3, NT5C2, PPP1R11, SYNE1, TCF4, TENM4, TRIM26, and ZNRD1...
  36. Murray R, Bryant J, Titcombe P, Barton S, Inskip H, Harvey N, et al. DNA methylation at birth within the promoter of ANRIL predicts markers of cardiovascular risk at 9 years. Clin Epigenetics. 2016;8:90 pubmed publisher
    ..004 to 0.128], p = 0.037); 10 % decreases in methylation at CpG1 and CpG2 were associated with increased heart rate (CpG1 β = 1.93 [0.07 to 3...
  37. Sharma S, Bagshawe K. Antibody Directed Enzyme Prodrug Therapy (ADEPT): Trials and tribulations. Adv Drug Deliv Rev. 2017;118:2-7 pubmed publisher
    ..Clinical studies with CPG2 system have shown the feasibility of this approach. The key limitation has been immunogenicity of the enzyme...
  38. Rafnar T, Gunnarsson B, Stefansson O, Sulem P, Ingason A, Frigge M, et al. Variants associating with uterine leiomyoma highlight genetic background shared by various cancers and hormone-related traits. Nat Commun. 2018;9:3636 pubmed publisher
    ..12 (CDC42/WNT4), 2p25.1 (GREB1), 20p12.3 (MCM8), and 6q26.2 (SYNE1/ESR1)...
  39. Fan R, Mao S, Gu T, Zhong F, Gong M, Hao L, et al. Preliminary analysis of the association between methylation of the ACE2 promoter and essential hypertension. Mol Med Rep. 2017;15:3905-3911 pubmed publisher
    ..Notably, CpG2 methylation was significantly higher in males than in females (adjusted P=0.018)...
  40. Ock C, Son B, Keam B, Lee S, Moon J, Kwak H, et al. Identification of genomic mutations associated with clinical outcomes of induction chemotherapy in patients with head and neck squamous cell carcinoma. J Cancer Res Clin Oncol. 2016;142:873-83 pubmed publisher
    ..Thirty-three mutations in TP53, NOTCH3, FGFR2, FGFR3, ATM, EGFR, MET, PTEN, FBXW7, SYNE1, and SUFU were frequently altered in poor responders...
  41. Loebrich S, Rathje M, Hager E, Ataman B, Harmin D, Greenberg M, et al. Genomic mapping and cellular expression of human CPG2 transcripts in the SYNE1 gene. Mol Cell Neurosci. 2016;71:46-55 pubmed publisher
    ..BD, and major depression, identified an association between single-nucleotide polymorphisms (SNPs) in the SYNE1 gene and increased risk of BD...
  42. Li Y, Liu S, Wang H, Mai H, Yuan X, Li C, et al. Methylation level of CpG islands in GGH gene promoter in pediatric acute leukemia. PLoS ONE. 2017;12:e0173472 pubmed publisher
    ..We aim to investigate methylation status of two CpG islands (CpG1 and CpG2) in the GGH promoter region in pediatric patients with ALL and acute myelogenous leukemia (AML)...
  43. Meng L, Chen D, Pei F, Hui R, Zheng Y, Chen J. DNA methylation in the norepinephrine transporter gene promoter region is not associated with depression and hypertension. Clin Exp Hypertens. 2017;39:539-545 pubmed publisher
    ..In addition, CpG1.2-CpG5.2 were highly correlated with CpG4 as the first principle component, while CpG2 and the part of CpG1 and 3 were the second principle components...
  44. Gnanapragasam V, Bratt O, Muir K, Lee L, Huang H, Stattin P, et al. The Cambridge Prognostic Groups for improved prediction of disease mortality at diagnosis in primary non-metastatic prostate cancer: a validation study. BMC Med. 2018;16:31 pubmed publisher
    ..74 vs. 0.73. The CPG groups that sub-divided the old intermediate-risk (CPG2 vs. CPG3) and high-risk categories (CPG4 vs...
  45. Aravind Kumar M, Naushad S, Narasimgu N, Nagaraju Naik S, Kadali S, Shanker U, et al. Whole exome sequencing of breast cancer (TNBC) cases from India: association of MSH6 and BRIP1 variants with TNBC risk and oxidative DNA damage. Mol Biol Rep. 2018;45:1413-1419 pubmed publisher
    ..75% and 12.5%, respectively. Among the 24 variants of unknown significance, MMP9 rs199676062, SYNE1 rs368709678, AURKA rs373550419, ABCC4 rs11568694 have variant allele frequency ≥ 62.5%...
  46. Jeyaharan D, Aston P, García Pérez Á, Schouten J, Davis P, Dixon A. Soluble expression, purification and functional characterisation of carboxypeptidase G2 and its individual domains. Protein Expr Purif. 2016;127:44-52 pubmed publisher
    ..in the treatment of cancer and autoimmune diseases, the 42 kDa zinc-dependent metalloenzyme carboxypeptidase G2 (CPG2) is of great therapeutic interest...
  47. Galamb O, Kalmár A, Barták B, Patai A, Leiszter K, Péterfia B, et al. Aging related methylation influences the gene expression of key control genes in colorectal cancer and adenoma. World J Gastroenterol. 2016;22:10325-10340 pubmed publisher
    ..Fifty-seven age-related CpG sites including hypermethylated PPP1R16B, SFRP1, SYNE1 and hypomethylated MGP, PIPOX were differentially methylated between CRC and normal tissues (P < 0...
  48. Wang J, Yu I, Huang C, Chen C, Wang W, Lin S, et al. Sun1 deficiency leads to cerebellar ataxia in mice. Dis Model Mech. 2015;8:957-67 pubmed publisher
    ..Inherited recessive cerebellar ataxia has been attributed to mutations in SYNE1, a component of the linker of nucleoskeleton and cytoskeleton (LINC) complex...
  49. Slot L, Hoogeboom R, Smit L, Wormhoudt T, Biemond B, Oud M, et al. B-Lymphoblastic Lymphomas Evolving from Follicular Lymphomas Co-Express Surrogate Light Chains and Mutated Gamma Heavy Chains. Am J Pathol. 2016;186:3273-3284 pubmed publisher
    ..Whole-exome sequencing revealed mutations in FMN2, NEB, and SYNE1 and a nonsense mutation in KMT2D, all shared by the FL and B-LBL, and TNFRSF14, SMARCA2, CCND3 mutations uniquely ..
  50. Stroud M, Feng W, Zhang J, Veevers J, Fang X, Gerace L, et al. Nesprin 1α2 is essential for mouse postnatal viability and nuclear positioning in skeletal muscle. J Cell Biol. 2017;216:1915-1924 pubmed publisher
    ..b>Nesprin 1, which includes multiple isoforms, is an integral component of the LINC complex, critical for nuclear ..
  51. Sun G, Zhang C, Feng M, Liu W, Xie H, Qin Q, et al. Methylation analysis of p16, SLIT2, SCARA5, and Runx3 genes in hepatocellular carcinoma. Medicine (Baltimore). 2017;96:e8279 pubmed publisher
    ..05). However, the methylation rate of CpG2 locus in SCARA5 gene in HCC patients was significantly higher (P?<?.05)...
  52. Kim J, Kim A, Youn J, Lee C, Kim N, Park W, et al. Identifying SYNE1 ataxia and extending the mutational spectrum in Korea. Parkinsonism Relat Disord. 2019;58:74-78 pubmed publisher
    ..The mutations in the SYNE1 gene was previously identified as a potential cause of pure cerebellar ataxia...
  53. Le Thanh P, Meinke P, Korfali N, Srsen V, Robson M, Wehnert M, et al. Immunohistochemistry on a panel of Emery-Dreifuss muscular dystrophy samples reveals nuclear envelope proteins as inconsistent markers for pathology. Neuromuscul Disord. 2017;27:338-351 pubmed publisher
    ..Although linked proteins nesprin 1 and SUN2 and muscle-specific proteins NET5/Samp1 and Tmem214 yielded aberrant distributions in individual ..
  54. Ji H, Wang Y, Liu G, Chang L, Chen Z, Zhou D, et al. Elevated OPRD1 promoter methylation in Alzheimer's disease patients. PLoS ONE. 2017;12:e0172335 pubmed publisher
    ..In the current study, we compare the DNA methylation levels of OPRD1 promoter CpG sites (CpG1, CpG2, and CpG3) between 51 AD cases and 63 controls using the bisulfite pyrosequencing technology...
  55. Szeliga M, Bogacińska Karaś M, Kuźmicz K, Rola R, Albrecht J. Downregulation of GLS2 in glioblastoma cells is related to DNA hypermethylation but not to the p53 status. Mol Carcinog. 2016;55:1309-16 pubmed publisher
    ..both mutated (T98G) and wild-type (U87MG) p53 and reduced the methylation of CpG1 (promoter region island), and CpG2 (first intron island) in both cell lines...
  56. Bachmann M, Pfeilschifter J, Muhl H. Epigenetic regulation by CpG methylation splits strong from retarded IFN?-induced IL-18BP in epithelial versus monocytic cells. Biochim Biophys Acta Gene Regul Mech. 2018;1861:191-199 pubmed publisher
    ..Subsequent promoter analysis brought into focus a specific CpG (coined CpG2) neighboring a ?-activated site responsible for IL18BP induction...
  57. Fan R, Wang W, Zhong Q, Duan S, Xu X, Hao L, et al. Aberrant methylation of the GCK gene body is associated with the risk of essential hypertension. Mol Med Rep. 2015;12:2390-4 pubmed publisher
    ..DNA methylation levels were closely correlated among CpG1, CpG2 and CpG3 (r>0.70; P<0...
  58. Rajgor D, Hanley J, Shanahan C. Identification of novel nesprin-1 binding partners and cytoplasmic matrin-3 in processing bodies. Mol Biol Cell. 2016;27:3894-3902 pubmed
    ..This study highlights several novel nesprin-1 binding partners and a new function and localization for Matr3 in cytoplasmic RNA granules. ..
  59. Algahtani H, Marzouk Y, Algahtani R, Salman S, Shirah B. Autosomal Recessive Cerebellar Ataxia type 1 mimicking multiple sclerosis: A report of two siblings with a novel mutation in SYNE1 gene in a Saudi family. J Neurol Sci. 2017;372:97-100 pubmed publisher
    ..A mutation in the synaptic nuclear envelope protein 1 (SYNE1) gene that is located on chromosome 6p25 results in premature termination of the protein...
  60. Mao S, Sun J, Gu T, Zhu F, Yin F, Zhang L. Hypomethylation of interleukin-6 (IL-6) gene increases the risk of essential hypertension: a matched case-control study. J Hum Hypertens. 2017;31:530-536 pubmed publisher
    ..sites of IL-6 promoter CpG island had different lower methylation in EH group compared with controls, but only CpG2 (58.43±7.53 versus 62.34±9.65, P=0.004) and CpG3 (51.52±6.18 versus 57.45±8.29, P<0...
  61. Sun M, Johnson A, Nelakuditi V, Guidugli L, Fischer D, Arndt K, et al. Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes. Genet Med. 2019;21:195-206 pubmed publisher
    ..Forty-six different genes were implicated, with the six most commonly mutated genes being SPG7, SYNE1, ADCK3, CACNA1A, ATP1A3, and SPTBN2, which accounted for >40% of the positive cases...
  62. Tanskanen T, Gylfe A, Katainen R, Taipale M, Renkonen Sinisalo L, Järvinen H, et al. Systematic search for rare variants in Finnish early-onset colorectal cancer patients. Cancer Genet. 2015;208:35-40 pubmed publisher
    ..Three genes (ADAMTS4, CYTL1, and SYNE1) harbored rare loss-of-function variants in both early-onset and familial CRC cases...
  63. Zhong Q, Liu C, Fan R, Duan S, Xu X, Zhao J, et al. Association of SCNN1B promoter methylation with essential hypertension. Mol Med Rep. 2016;14:5422-5428 pubmed publisher
    ..Among the six CpG sites, a significant difference in CpG1 and CpG2 methylation levels were detected between controls and incident cases (CpG1: β‑standardized=0.17, adjusted P=0...
  64. Ozaki Y, Yoshino Y, Yamazaki K, Sao T, Mori Y, Ochi S, et al. DNA methylation changes at TREM2 intron 1 and TREM2 mRNA expression in patients with Alzheimer's disease. J Psychiatr Res. 2017;92:74-80 pubmed publisher
    ..4 ± 3.2 vs 11.9 ± 4.0 (p = 0.001); cpg2, 15.4 ± 4.9 vs 19.1 ± 4.8 (p = 0.001); cpg3, 20.8 ± 5.5 vs 25.5 ± 5.4 (p < 0...
  65. Espigat Georger A, Dyachuk V, Chemin C, Emorine L, Merdes A. Nuclear alignment in myotubes requires centrosome proteins recruited by nesprin-1. J Cell Sci. 2016;129:4227-4237 pubmed
    ..correct positioning of nuclei is thought to be important for muscle function and requires nesprin-1 (also known as SYNE1), a protein of the nuclear envelope...
  66. Feng Y, Zhang X, Wu T, Xu X, Han Z, Wang Y. Methylation effect on IPT5b gene expression determines cytokinin biosynthesis in apple rootstock. Biochem Biophys Res Commun. 2017;482:604-609 pubmed publisher
    ..Bisulfite sequencing showed that two CpG islands (CpG2 and CpG4) in the IPT5b promoter region showed higher methylation levels in the M9 rootstock (dwarfing) compared to ..
  67. Gama M, Piccinin C, Rezende T, Dion P, Rouleau G, França Junior M, et al. Multimodal neuroimaging analysis in patients with SYNE1 Ataxia. J Neurol Sci. 2018;390:227-230 pubmed publisher
    The gene SYNE1 is highly expressed in the cerebellum and its dysfunction is related to an autosomal recessive ataxia (SYNE1-ataxia)...
  68. Potter C, Hodzic D. Analysis of High Molecular Weight Isoforms of Nesprin-1 and Nesprin-2 with Vertical Agarose Gel Electrophoresis. Methods Mol Biol. 2018;1840:25-33 pubmed publisher
    ..Here, we describe the application of vertical agarose gel electrophoresis to identify large isoforms of nesprin-1 and nesprin-2. ..
  69. Liu H, Tang Y, Liu X, Zhou Q, Xiao X, Lan F, et al. 14-3-3 tau (YWHAQ) gene promoter hypermethylation in human placenta of preeclampsia. Placenta. 2014;35:981-8 pubmed publisher
    ..1% vs. 9.4%, P = 0.0095). PE-specific hypermethylation of CpG2 - 4, CpG9, CpG17, CpG19 was identified in PE patients compared with controls (CpG2: 13.3% vs. 2.5%, P < 0...
  70. Wick W, Fricke H, Junge K, Kobyakov G, Martens T, Heese O, et al. A phase II, randomized, study of weekly APG101+reirradiation versus reirradiation in progressive glioblastoma. Clin Cancer Res. 2014;20:6304-13 pubmed publisher
    ..60 (95% CI, 0.36-1.01; P = 0.0559) for rRT+APG101 for death of any cause. Lower methylation levels at CpG2 in the CD95L promoter in the tumor conferred a stronger risk reduction (HR, 0.19; 95% CI, 0.06-0...
  71. Laqqan M, Solomayer E, Hammadeh M. Aberrations in sperm DNA methylation patterns are associated with abnormalities in semen parameters of subfertile males. Reprod Biol. 2017;17:246-251 pubmed publisher
    ..001, p?0.009, p?0.007, p?0.007, p?0.020, and p?0.016, respectively), and at (CpG1, CpG2, and CpG4) in the MLPH gene-related amplicon (p?0.003, p?0.005, and p?0...
  72. Zhou C, Rao L, Warren D, Shanahan C, Zhang Q. Mouse models of nesprin-related diseases. Biochem Soc Trans. 2018;46:669-681 pubmed publisher
    ..In this review, we summarise the existing nesprin mouse models, compare their phenotypes and discuss the potential mechanisms underlying nesprin-associated diseases. ..
  73. Loebrich S, Benoit M, Konopka J, Cottrell J, Gibson J, Nedivi E. CPG2 Recruits Endophilin B2 to the Cytoskeleton for Activity-Dependent Endocytosis of Synaptic Glutamate Receptors. Curr Biol. 2016;26:296-308 pubmed publisher
    ..cytoskeleton in CME is well established, and recently, PKA-dependent association of candidate plasticity gene 2 (CPG2) with the spine-cytoskeleton has been shown to mediate synaptic glutamate receptor internalization...
  74. Xie B, Xu Y, Liu Z, Liu W, Jiang L, Zhang R, et al. Elevation of Peripheral BDNF Promoter Methylation Predicts Conversion from Amnestic Mild Cognitive Impairment to Alzheimer's Disease: A 5-Year Longitudinal Study. J Alzheimers Dis. 2017;56:391-401 pubmed publisher
    ..The DNA methylation levels of CpG1 and CpG2 in promoter I and CpG5 and CpG6 in promoter IV of BDNF gene were significantly higher in the aMCI group than in the ..
  75. Sadeghian I, Khalvati B, Ghasemi Y, Hemmati S. TAT-mediated intracellular delivery of carboxypeptidase G2 protects against methotrexate-induced cell death in HepG2 cells. Toxicol Appl Pharmacol. 2018;346:9-18 pubmed publisher
    ..Carboxypeptidase G2 (CPG2) is administrated for the treatment of elevated plasma concentrations of MTX...
  76. Melotte V, Yi J, Lentjes M, Smits K, Van Neste L, Niessen H, et al. Spectrin repeat containing nuclear envelope 1 and forkhead box protein E1 are promising markers for the detection of colorectal cancer in blood. Cancer Prev Res (Phila). 2015;8:157-64 pubmed publisher
    ..and two additional markers [Forkhead box protein E1 (FOXE1) and spectrin repeat containing nuclear envelope 1 (SYNE1)] promoter methylation as biomarkers in plasma DNA...
  77. Qiao M, Li C, Zhang A, Hou L, Yang J, Hu H. Regulation of DEK expression by AP-2? and methylation level of DEK promoter in hepatocellular carcinoma. Oncol Rep. 2016;36:2382-90 pubmed publisher
    ..In the present study, progressive-type truncation assay indicated that CpG2-2 (-167 bp/+35 bp) was the DEK core promoter, whose methylation inhibited DEK expression...
  78. Edenberg H, Koller D, Xuei X, Wetherill L, McClintick J, Almasy L, et al. Genome-wide association study of alcohol dependence implicates a region on chromosome 11. Alcohol Clin Exp Res. 2010;34:840-52 pubmed publisher
    ..as candidates in earlier GWAS studies replicated in ours, including CPE, DNASE2B, SLC10A2, ARL6IP5, ID4, GATA4, SYNE1, and ADCY3...
  79. Green E, Grozeva D, Forty L, Gordon Smith K, Russell E, Farmer A, et al. Association at SYNE1 in both bipolar disorder and recurrent major depression. Mol Psychiatry. 2013;18:614-7 pubmed publisher
    ..7 × 10??, odds ratio (OR)=1.147) of association with the risk of BD at the polymorphism rs9371601 within SYNE1, a gene which encodes nesprin-1...
  80. Noreau A, Bourassa C, Szuto A, Levert A, Dobrzeniecka S, Gauthier J, et al. SYNE1 mutations in autosomal recessive cerebellar ataxia. JAMA Neurol. 2013;70:1296-31 pubmed
    ..Mutations in the synaptic nuclear envelope protein 1 (SYNE1) gene, located on chromosome 6p25, were first reported in patients who originated from a ..
  81. Wang S, Reuveny A, Volk T. Nesprin provides elastic properties to muscle nuclei by cooperating with spectraplakin and EB1. J Cell Biol. 2015;209:529-38 pubmed publisher
    ..These findings may shed light on the underlying mechanism of various muscular dystrophies. ..
  82. Wiethoff S, Hersheson J, Bettencourt C, Wood N, Houlden H. Heterogeneity in clinical features and disease severity in ataxia-associated SYNE1 mutations. J Neurol. 2016;263:1503-10 pubmed publisher
    ..b>SYNE1 was originally discovered in 2007 as the causal gene underlying autosomal recessive spinocerebellar ataxia 1, a ..
  83. Holt I, Duong N, Zhang Q, Lam L, Sewry C, Mamchaoui K, et al. Specific localization of nesprin-1-?2, the short isoform of nesprin-1 with a KASH domain, in developing, fetal and regenerating muscle, using a new monoclonal antibody. BMC Cell Biol. 2016;17:26 pubmed publisher
    ..The results show that nesprin-1-?2 is dynamically controlled and may be involved in some process occurring during early myofibre formation, such as re-positioning of nuclei. ..
  84. Laqqan M, Hammadeh M. Aberrations in sperm DNA methylation patterns of males suffering from reduced fecundity. Andrologia. 2017;: pubmed publisher
    ..003, CpG2, p ? .0001, CpG3, p ? .003 and CpG4, p ? .030) and CpG1 in CG? gene-related amplicon (p ? .0001)...
  85. Xu W, Cohen Woods S, Chen Q, Noor A, Knight J, Hosang G, et al. Genome-wide association study of bipolar disorder in Canadian and UK populations corroborates disease loci including SYNE1 and CSMD1. BMC Med Genet. 2014;15:2 pubmed publisher
    ..pointed to several genes of interest that support GWAS findings for BD from other groups or consortia, such as at SYNE1 on 6q25, PPP2R2C on 4p16.1, ZNF659 on 3p24.3, CNTNAP5 (2q14.3), and CDH13 (16q23.3)...
  86. King S, Nowak K, Suryavanshi N, Holt I, Shanahan C, Ridley A. Nesprin-1 and nesprin-2 regulate endothelial cell shape and migration. Cytoskeleton (Hoboken). 2014;71:423-34 pubmed publisher
    ..Taken together, our results indicate that nesprin-1 and nesprin-2 both regulate nuclear and cytoplasmic architecture, which we propose leads to their effects on endothelial cell migration and angiogenic loop formation. ..
  87. Rodriguez Acevedo A, Smith R, Roy B, Sutherland H, Lea R, Frith A, et al. Genetic association and gene expression studies suggest that genetic variants in the SYNE1 and TNF genes are related to menstrual migraine. J Headache Pain. 2014;15:62 pubmed publisher
    ..are potentially related to MM, specifically undertaking genotyping and mRNA expression analysis of the ESR1, PGR, SYNE1 and TNF genes in MM cases and non-migraine controls...
  88. Adriani W, Romano E, Pucci M, Pascale E, Cerniglia L, Cimino S, et al. Potential for diagnosis versus therapy monitoring of attention deficit hyperactivity disorder: a new epigenetic biomarker interacting with both genotype and auto-immunity. Eur Child Adolesc Psychiatry. 2018;27:241-252 pubmed publisher
    ..Within patients carrying at least one DAT 9 allele (DAT 9/x), methylation at positions CpG2 and/or CpG6 correlated with recovery, as evident from delta-CGAS scores as well as delta Conners' scales ('..
  89. Jiang L, Wen S, Wang H, Chen L. Screening the proteins that interact with calpain in a human heart cDNA library using a yeast two-hybrid system. Hypertens Res. 2002;25:647-52 pubmed
    ..Additional studies will be needed to clarify the calpain-related signal transduction pathway in greater detail. ..
  90. Chen Z, Ren Z, Mei W, Ma Q, Shi Y, Zhang Y, et al. A novel SYNE1 gene mutation in a Chinese family of Emery-Dreifuss muscular dystrophy-like. BMC Med Genet. 2017;18:63 pubmed publisher
    In the present study, a novel mutation in exon 46 at codon 2304 (G2304R) of the SYNE1 gene is described in a Chinese family (proband, mother, and sister) with Emery-Dreifuss muscular dystrophy-like, which clinically manifests as muscle ..
  91. Hernandez M, Patzig J, Mayoral S, Costa K, Chan J, CASACCIA P. Mechanostimulation Promotes Nuclear and Epigenetic Changes in Oligodendrocytes. J Neurosci. 2016;36:806-13 pubmed publisher
    ..e., SYNE1) as transducers of mechanical signals to the nucleus, where they modulate the deposition of repressive histone ..