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Volumn 110, Issue 48, 2013, Pages 19472-19477

Human-specific endogenous retroviral insert serves as an enhancer for the schizophrenia-linked gene PRODH

(20)  Suntsova, Maria a,b   Gogvadze, Elena V a   Salozhin, Sergey c   Gaifullin, Nurshat d,e   Eroshkin, Fedor a   Dmitriev, Sergey E f   Martynova, Natalia a   Kulikov, Kirill e   Malakhova, Galina a   Tukhbatova, Gulnur c   Bolshakov, Alexey P c   Ghilarov, Dmitry a   Garazha, Andrew a,b   Aliper, Alexander a,b   Cantor, Charles R g   Solokhin, Yuri e   Roumiantsev, Sergey b   Balaban, Pavel c   Zhavoronkov, Alex b   Buzdin, Anton a,b  


Author keywords

Central nervous system; DNA methylation; Human speciation; Human specific endogenous retrovirus; Retroelement

Indexed keywords

PROLINE DEHYDROGENASE; TRANSCRIPTION FACTOR SOX2;

EID: 84888377162     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.1318172110     Document Type: Article
Times cited : (68)

References (28)
  • 1
    • 5144227841 scopus 로고    scopus 로고
    • Retroelements and the human genome: New perspectives on an old relation
    • Bannert N, Kurth R (2004) Retroelements and the human genome: New perspectives on an old relation. Proc Natl Acad Sci USA 101(Suppl 2): 14572-14579.
    • (2004) Proc Natl Acad Sci USA , vol.101 , Issue.SUPPL. 2 , pp. 14572-14579
    • Bannert, N.1    Kurth, R.2
  • 2
    • 66149157654 scopus 로고    scopus 로고
    • Human-specific modulation of transcriptional activity provided by endogenous retroviral insertions
    • Gogvadze E, Stukacheva E, Buzdin A, Sverdlov E (2009) Human-specific modulation of transcriptional activity provided by endogenous retroviral insertions. J Virol 83(12): 6098-6105.
    • (2009) J Virol , vol.83 , Issue.12 , pp. 6098-6105
    • Gogvadze, E.1    Stukacheva, E.2    Buzdin, A.3    Sverdlov, E.4
  • 3
    • 33645464594 scopus 로고    scopus 로고
    • Recently mobilized transposons in the human and chimpanzee genomes
    • Mills RE, et al. (2006) Recently mobilized transposons in the human and chimpanzee genomes. Am J Hum Genet 78(4): 671-679.
    • (2006) Am J Hum Genet , vol.78 , Issue.4 , pp. 671-679
    • Mills, R.E.1
  • 4
    • 33750356627 scopus 로고    scopus 로고
    • At least 50% of human-specific HERV-K (HML-2) long terminal repeats serve in vivo as active promoters for host nonrepetitive DNA transcription
    • Buzdin A, Kovalskaya-Alexandrova E, Gogvadze E, Sverdlov E (2006) At least 50% of human-specific HERV-K (HML-2) long terminal repeats serve in vivo as active promoters for host nonrepetitive DNA transcription. J Virol 80(21): 10752-10762.
    • (2006) J Virol , vol.80 , Issue.21 , pp. 10752-10762
    • Buzdin, A.1    Kovalskaya-Alexandrova, E.2    Gogvadze, E.3    Sverdlov, E.4
  • 6
    • 57149120578 scopus 로고    scopus 로고
    • Functional polymorphisms in PRODH are associated with risk and protection for schizophrenia and fronto-striatal structure and function
    • Kempf L, et al. (2008) Functional polymorphisms in PRODH are associated with risk and protection for schizophrenia and fronto-striatal structure and function. PLoS Genet 4(11):e1000252.
    • (2008) PLoS Genet , vol.4 , Issue.11
    • Kempf, L.1
  • 7
    • 0032948179 scopus 로고    scopus 로고
    • The gene encoding proline dehydrogenase modulates sensorimotor gating in mice
    • Gogos JA, et al. (1999) The gene encoding proline dehydrogenase modulates sensorimotor gating in mice. Nat Genet 21(4): 434-439.
    • (1999) Nat Genet , vol.21 , Issue.4 , pp. 434-439
    • Gogos, J.A.1
  • 8
    • 0037294876 scopus 로고    scopus 로고
    • Human-specific subfamilies of HERV-K (HML-2) long terminal repeats: Three master genes were active simultaneously during branching of hominoid lineages
    • Buzdin A, et al. (2003) Human-specific subfamilies of HERV-K (HML-2) long terminal repeats: Three master genes were active simultaneously during branching of hominoid lineages. Genomics 81(2): 149-156.
    • (2003) Genomics , vol.81 , Issue.2 , pp. 149-156
    • Buzdin, A.1
  • 9
    • 37849185456 scopus 로고    scopus 로고
    • Distinct co-regulation of endogenous versus transfected MITF-dependent tyrosinase promoter
    • Sestáková B, Vachtenheim J (2006) Distinct co-regulation of endogenous versus transfected MITF-dependent tyrosinase promoter. Folia Biol (Praha) 52(5): 161-166.
    • (2006) Folia Biol (Praha) , vol.52 , Issue.5 , pp. 161-166
    • Sestáková, B.1    Vachtenheim, J.2
  • 10
    • 11144248017 scopus 로고    scopus 로고
    • CpG methylation directly regulates transcriptional activity of the human endogenous retrovirus family HERV-K (HML-2)
    • Lavie L, Kitova M, Maldener E, Meese E, Mayer J (2005) CpG methylation directly regulates transcriptional activity of the human endogenous retrovirus family HERV-K (HML-2). J Virol 79(2): 876-883.
    • (2005) J Virol , vol.79 , Issue.2 , pp. 876-883
    • Lavie, L.1    Kitova, M.2    Maldener, E.3    Meese, E.4    Mayer, J.5
  • 11
    • 77950633126 scopus 로고    scopus 로고
    • Regulation of human endogenous retrovirus- K expression in melanomas by CpG methylation
    • Stengel S, Fiebig U, Kurth R, Denner J (2010) Regulation of human endogenous retrovirus- K expression in melanomas by CpG methylation. Genes Chromosomes Cancer 49(5): 401-411.
    • (2010) Genes Chromosomes Cancer , vol.49 , Issue.5 , pp. 401-411
    • Stengel, S.1    Fiebig, U.2    Kurth, R.3    Denner, J.4
  • 12
    • 0031468232 scopus 로고    scopus 로고
    • A human homologue of the Drosophila melanogaster sluggish-A (proline oxidase) gene maps to 22q11.2, and is a candidate gene for type-I hyperprolinaemia
    • Campbell HD, Webb GC, Young IG (1997) A human homologue of the Drosophila melanogaster sluggish-A (proline oxidase) gene maps to 22q11.2, and is a candidate gene for type-I hyperprolinaemia. Hum Genet 101(1): 69-74.
    • (1997) Hum Genet , vol.101 , Issue.1 , pp. 69-74
    • Campbell, H.D.1    Webb, G.C.2    Young, I.G.3
  • 13
    • 21444443478 scopus 로고    scopus 로고
    • MatInspector and beyond: Promoter analysis based on transcription factor binding sites
    • Cartharius K, et al. (2005) MatInspector and beyond: Promoter analysis based on transcription factor binding sites. Bioinformatics 21(13): 2933-2942.
    • (2005) Bioinformatics , vol.21 , Issue.13 , pp. 2933-2942
    • Cartharius, K.1
  • 14
    • 27444447025 scopus 로고    scopus 로고
    • Clinical features of 78 adults with 22q11 Deletion Syndrome
    • Bassett AS, et al. (2005) Clinical features of 78 adults with 22q11 Deletion Syndrome. Am J Med Genet A 138(4): 307-313.
    • (2005) Am J Med Genet A , vol.138 , Issue.4 , pp. 307-313
    • Bassett, A.S.1
  • 15
    • 0842326677 scopus 로고    scopus 로고
    • Genetic variation at the 22q11 PRODH2/DGCR6 locus presents an unusual pattern and increases susceptibility to schizophrenia
    • Liu H, et al. (2002) Genetic variation at the 22q11 PRODH2/DGCR6 locus presents an unusual pattern and increases susceptibility to schizophrenia. Proc Natl Acad Sci USA 99(6): 3717-3722.
    • (2002) Proc Natl Acad Sci USA , vol.99 , Issue.6 , pp. 3717-3722
    • Liu, H.1
  • 16
    • 13844292418 scopus 로고    scopus 로고
    • Functional consequences of PRODH missense mutations
    • Bender HU, et al. (2005) Functional consequences of PRODH missense mutations. Am J Hum Genet 76(3): 409-420.
    • (2005) Am J Hum Genet , vol.76 , Issue.3 , pp. 409-420
    • Bender, H.U.1
  • 17
    • 84885020424 scopus 로고    scopus 로고
    • Genome-wide association analysis identifies 13 new risk loci for schizophrenia
    • Multicenter Genetic Studies of Schizophrenia Consortium; Psychosis Endophenotypes International Consortium; Wellcome Trust Case Control Consortium 2; Management Committee; Data and Analysis Group; DNA, Genotyping, Data QC and Informatics Group; Publications Committee
    • Ripke S, et al.; Multicenter Genetic Studies of Schizophrenia Consortium; Psychosis Endophenotypes International Consortium; Wellcome Trust Case Control Consortium 2; Management Committee; Data and Analysis Group; DNA, Genotyping, Data QC and Informatics Group; Publications Committee (2013) Genome-wide association analysis identifies 13 new risk loci for schizophrenia. Nat Genet 45(10): 1150-1159.
    • (2013) Nat Genet , vol.45 , Issue.10 , pp. 1150-1159
    • Ripke, S.1
  • 18
    • 16244415482 scopus 로고    scopus 로고
    • Chronic hyperprolinemia provokes a memory deficit in the Morris water maze task
    • Bavaresco CS, Streck EL, Netto CA, Wyse AT (2005) Chronic hyperprolinemia provokes a memory deficit in the Morris water maze task. Metab Brain Dis 20(1): 73-80.
    • (2005) Metab Brain Dis , vol.20 , Issue.1 , pp. 73-80
    • Bavaresco, C.S.1    Streck, E.L.2    Netto, C.A.3    Wyse, A.T.4
  • 19
    • 80051782495 scopus 로고    scopus 로고
    • Evidence for association of hyperprolinemia with schizophrenia and a measure of clinical outcome
    • Clelland CL, et al. (2011) Evidence for association of hyperprolinemia with schizophrenia and a measure of clinical outcome. Schizophr Res 131(1-3): 139-145.
    • (2011) Schizophr Res , vol.131 , Issue.1-3 , pp. 139-145
    • Clelland, C.L.1
  • 20
    • 0029922882 scopus 로고    scopus 로고
    • Cloning, characterization, and expression of cDNAs encoding human delta 1-pyrroline-5-carboxylate dehydrogenase
    • Hu CA, Lin WW,Valle D (1996) Cloning, characterization, and expression of cDNAs encoding human delta 1-pyrroline-5-carboxylate dehydrogenase. J Biol Chem271(16): 9795-9800.
    • (1996) J Biol Chem , vol.271 , Issue.16 , pp. 9795-9800
    • Hu, C.A.1    Lin, W.W.2    Valle, D.3
  • 21
    • 0021677944 scopus 로고
    • Proline, glutamate and glutamine metabolism in mouse brain synaptosomes
    • Johnson JL, Roberts E (1984) Proline, glutamate and glutamine metabolism in mouse brain synaptosomes. Brain Res 323(2): 247-256.
    • (1984) Brain Res , vol.323 , Issue.2 , pp. 247-256
    • Johnson, J.L.1    Roberts, E.2
  • 22
    • 0032906584 scopus 로고    scopus 로고
    • The mammalian brain high-affinity L-proline transporter is enriched preferentially in synaptic vesicles in a subpopulation of excitatory nerve terminals in rat forebrain
    • Renick SE, et al. (1999) The mammalian brain high-affinity L-proline transporter is enriched preferentially in synaptic vesicles in a subpopulation of excitatory nerve terminals in rat forebrain. J Neurosci 19(1): 21-33.
    • (1999) J Neurosci , vol.19 , Issue.1 , pp. 21-33
    • Renick, S.E.1
  • 23
    • 0033135818 scopus 로고    scopus 로고
    • MRI anatomy of schizophrenia
    • McCarley RW, et al. (1999) MRI anatomy of schizophrenia. Biol Psychiatry 45(9): 1099-1119.
    • (1999) Biol Psychiatry , vol.45 , Issue.9 , pp. 1099-1119
    • McCarley, R.W.1
  • 24
    • 84863205849 scopus 로고    scopus 로고
    • NIH Image to ImageJ: 25 years of image analysis
    • Schneider CA, Rasband WS, Eliceiri KW (2012) NIH Image to ImageJ: 25 years of image analysis. Nat Methods 9(7): 671-675.
    • (2012) Nat Methods , vol.9 , Issue.7 , pp. 671-675
    • Schneider, C.A.1    Rasband, W.S.2    Eliceiri, K.W.3
  • 25
    • 34347326163 scopus 로고    scopus 로고
    • Efficient translation initiation directed by the 900-nucleotide- long and GC-rich 5' untranslated region of the human retrotransposon LINE-1 mRNA is strictly cap dependent rather than internal ribosome entry site mediated
    • Dmitriev SE, et al. (2007) Efficient translation initiation directed by the 900-nucleotide- long and GC-rich 5' untranslated region of the human retrotransposon LINE-1 mRNA is strictly cap dependent rather than internal ribosome entry site mediated. Mol Cell Biol 27(13): 4685-4697.
    • (2007) Mol Cell Biol , vol.27 , Issue.13 , pp. 4685-4697
    • Dmitriev, S.E.1
  • 26
    • 0037786786 scopus 로고    scopus 로고
    • Minor secondary-structure variation in the 5'-untranslated region of the beta-globin mRNA changes the concentration requirements for eIF2
    • Dmitriev SE, Terenin IM, Rubtsova MP, Shatskiǐ IN (2003) [Minor secondary-structure variation in the 5'-untranslated region of the beta-globin mRNA changes the concentration requirements for eIF2]. Mol Biol (Mosk) 37(3): 494-503.
    • (2003) Mol Biol (Mosk) , vol.37 , Issue.3 , pp. 494-503
    • Dmitriev, S.E.1    Terenin, I.M.2    Rubtsova, M.P.3    Shatskiǐ, I.N.4
  • 27
    • 0021100690 scopus 로고
    • Accurate transcription initiation by RNA polymerase II in a soluble extract from isolated mammalian nuclei
    • Dignam JD, Lebovitz RM, Roeder RG (1983) Accurate transcription initiation by RNA polymerase II in a soluble extract from isolated mammalian nuclei. Nucleic Acids Res 11(5): 1475-1489.
    • (1983) Nucleic Acids Res , vol.11 , Issue.5 , pp. 1475-1489
    • Dignam, J.D.1    Lebovitz, R.M.2    Roeder, R.G.3
  • 28
    • 10844290766 scopus 로고    scopus 로고
    • A model based background adjustment for oligonucleotide expression arrays
    • Wu Z, Irizarry R, Gentleman R, Murillo FM, Spencer F (2004) A model based background adjustment for oligonucleotide expression arrays. J Am Stat Assoc 99: 909-917.
    • (2004) J Am Stat Assoc , vol.99 , pp. 909-917
    • Wu, Z.1    Irizarry, R.2    Gentleman, R.3    Murillo, F.M.4    Spencer, F.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.