A t(1;11) translocation linked to schizophrenia and affective disorders gives rise to aberrant chimeric DISC1 transcripts that encode structurally altered, deleterious mitochondrial proteins

被引：48

作者：

Eykelenboom, Jennifer E. ^{[1
]}

Briggs, Gareth J. ^{[1
]}

Bradshaw, Nicholas J. ^{[1
]}

Soares, Dinesh C. ^{[1
]}

Ogawa, Fumiaki ^{[1
]}

Christie, Sheila ^{[1
]}

Malavasi, Elise L. V. ^{[1
]}

Makedonopoulou, Paraskevi ^{[1
]}

Mackie, Shaun ^{[1
]}

Malloy, Mary P. ^{[1
]}

Wear, Martin A. ^{[2
]}

Blackburn, Elizabeth A. ^{[2
]}

Bramham, Janice ^{[2
]}

McIntosh, Andrew M. ^{[1
,3
]}

Blackwood, Douglas H. ^{[1
,3
]}

Muir, Walter J. ^{[1
,3
]}

Porteous, David J. ^{[1
]}

Millar, J. Kirsty ^{[1
]}

机构：

[1] Univ Edinburgh, Med Genet Sect, Ctr Mol Med, Med Res Council,Inst Genet & Mol Med, Edinburgh EH4 2XU, Midlothian, Scotland

[2] Univ Edinburgh, Inst Struct & Mol Biol, Ctr Translat & Chem Biol, Edinburgh EH9 3JR, Midlothian, Scotland

[3] Royal Edinburgh & Associated Hosp, Univ Dept Psychiat, Edinburgh EH10 5HF, Midlothian, Scotland

来源：

HUMAN MOLECULAR GENETICS | 2012年 / 21卷 / 15期

基金：

英国生物技术与生命科学研究理事会; 英国惠康基金; 英国医学研究理事会;

关键词：

SECONDARY STRUCTURE; DISRUPTED-IN-SCHIZOPHRENIA-1; PREDICTION; BRAIN; GENE; CENTROSOME; DISRUPTION; SYNAPSE; SERVER; PDE4B;

D O I：

10.1093/hmg/dds169

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

GenBank accession numbers: DISC1FP1 (EU302123), Boymaw (GU134617), der 11 chimeric transcript DISC1FP1 exon 2 to DISC1 exon 9 (JQ650115), der 1 chimeric transcript DISC1 exon 4 to DISC1FP1 exon 4 (JQ650116), der 1 chimeric transcript DISC1 exon 6 to DISC1FP1 exon 3a (JQ650117).

引用

页码：3374 / 3386

页数：13

共 50 条

[1] Disrupted in Schizophrenia-1 regulates intracellular trafficking of mitochondria in neurons [J].

Atkin, T. A. ;

MacAskill, A. F. ;

Brandon, N. J. ;

Kittler, J. T. .

MOLECULAR PSYCHIATRY, 2011, 16 (02) :122-124

[2] Schizophrenia and affective disorders - Cosegregation with a translocation at chromosome 1q42 that directly disrupts brain-expressed genes: Clinical and P300 findings in a family [J].

Blackwood, DHR ;

Fordyce, A ;

Walker, MT ;

St Clair, DM ;

Porteous, DJ ;

Muir, WJ .

AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (02) :428-433

[3] DISC1-binding proteins in neural development, signalling and schizophrenia [J].

Bradshaw, Nicholas J. ;

Porteous, David J. .

NEUROPHARMACOLOGY, 2012, 62 (03) :1230-1241

[4] DISC1, PDE4B, and NDE1 at the centrosome and synapse [J].

Bradshaw, Nicholas J. ;

Ogawa, Fumiaki ;

Antolin-Fontes, Beatriz ;

Chubb, Jennifer E. ;

Carlyle, Becky C. ;

Christie, Sheila ;

Claessens, Antoine ;

Porteous, David J. ;

Millar, J. Kirsty .

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 2008, 377 (04) :1091-1096

[5] Linking neurodevelopmental and synaptic theories of mental illness through DISC1 [J].

Brandon, Nicholas J. ;

Sawa, Akira .

NATURE REVIEWS NEUROSCIENCE, 2011, 12 (12) :707-722

[6] The DISC locus in psychiatric illness [J].

Chubb, J. E. ;

Bradshaw, N. J. ;

Soares, D. C. ;

Porteous, D. J. ;

Millar, J. K. .

MOLECULAR PSYCHIATRY, 2008, 13 (01) :36-64

[7] The Jpred 3 secondary structure prediction server [J].

Cole, Christian ;

Barber, Jonathan D. ;

Barton, Geoffrey J. .

NUCLEIC ACIDS RESEARCH, 2008, 36 :W197-W201

[8] Disrupted-in-schizophrenia 1 regulates integration of newly generated neurons in the adult brain [J].

Duan, Xin ;

Chang, Jay H. ;

Ge, Shaoyu ;

Faulkner, Regina L. ;

Kim, Ju Young ;

Kitabatake, Yasuji ;

Liu, Xiao-bo ;

Yang, Chih-Hao ;

Jordan, J. Dedrick ;

Ma, Dengke K. ;

Liu, Cindy Y. ;

Ganesan, Sundar ;

Cheng, Hwai-Jong ;

Ming, Guo-li ;

Lu, Bai ;

Song, Hongjun .

CELL, 2007, 130 (06) :1146-1158

[9] Using circular dichroism spectra to estimate protein secondary structure [J].

Greenfield, Norma J. .

NATURE PROTOCOLS, 2006, 1 (06) :2876-2890

[10]

Han XJ, 2011, ACTA MED OKAYAMA, V65, P1

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