The cis-regulatory effect of an Alzheimer's disease-associated poly-T locus on expression of TOMM40 and apolipoprotein e genes

Alzheimer's and Dementia

Volumn 10, Issue 5, 2014, Pages 541-551

  Linnertz, Colton ^a   Anderson, Lauren ^a   Gottschalk, William ^a   Crenshaw, Donna ^a   Lutz, Michael W ^a   Allen, Jawara ^a   Saith, Sunita ^a   Mihovilovic, Mirta ^a   Burke, James R ^a   Welsh Bohmer, Kathleen A ^a   Roses, Allen D ^a,b   Chiba Falek, Ornit ^a  

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

^b Zinfandel Pharmaceuticals   (United States)

Author keywords

Alzheimer's disease; Apolipoprotein E; Messenger RNA expression; Poly T polymorphism; TOMM40; Transcription regulation

Indexed keywords

APOLIPOPROTEIN E; CIS ACTING ELEMENT; GENOMIC DNA; MESSENGER RNA; POLYTHYMIDYLIC ACID; CARRIER PROTEIN; TOMM40 PROTEIN, HUMAN;

AGED; ALLELE; ALZHEIMER DISEASE; APOLIPOPROTEIN E GENE; ARTICLE; AUTOPSY; BRAIN TISSUE; CONTROLLED STUDY; FEMALE; GENE; GENE EXPRESSION; GENE EXPRESSION SYSTEM; GENE FUNCTION; GENE LOCUS; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENOTYPE; HEPG2 CELL LINE; HOMOZYGOTE; HUMAN; HUMAN CELL; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; MITOCHONDRIAL MEMBRANE; NEUROBLASTOMA CELL LINE; OCCIPITAL CORTEX; ONSET AGE; OUTER MITOCHONDRIAL MEMBRANE 40 GENE; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; REPORTER GENE; RISK ASSESSMENT; SINGLE NUCLEOTIDE POLYMORPHISM; TEMPORAL CORTEX; TISSUE SPECIFICITY; TRANSCRIPTION REGULATION; GENE EXPRESSION REGULATION; GENETIC POLYMORPHISM; GENETIC PREDISPOSITION; GENETIC TRANSFECTION; GENETICS; HEP-G2 CELL LINE; METABOLISM; OCCIPITAL LOBE; TEMPORAL LOBE; TUMOR CELL LINE;

AGE OF ONSET; AGED; ALZHEIMER DISEASE; APOLIPOPROTEINS E; CELL LINE, TUMOR; FEMALE; GENE EXPRESSION REGULATION; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HEP G2 CELLS; HUMANS; MALE; MEMBRANE TRANSPORT PROTEINS; OCCIPITAL LOBE; POLYMORPHISM, GENETIC; RNA, MESSENGER; TEMPORAL LOBE; TRANSFECTION;

EID: 84891898987     PISSN: 15525260     EISSN: 15525279     Source Type: Journal    
DOI: 10.1016/j.jalz.2013.08.280     Document Type: Article

References (33)

1. A.D. Roses, M.W. Lutz, H. Amrine-Madsen, A.M. Saunders, D.G. Crenshaw, and S.S. Sundseth et al. A TOMM40 variable length polymorphism predicts the age of late-onset Alzheimer's disease Pharmacogenomics J 10 2010 375 384
2. Lutz MW, Crenshaw DG, Saunders AM, Roses AD. Genetic variation at a single locus and age of onset for Alzheimer's disease. Alzheimers Dement 2010;6:125-31.
3. R.J. Caselli et al. TOMM40, APOE and age of onset of Alzheimer's disease Alzheimers Dement 6 2010 S202
4. S. Johnson, A. La Rue, B. Hermann, G. Xu, R. Koscik, and E. Jonaitis et al. The effect of TOMM40 poly-T length on gray matter volume and cognition in middle-aged persons with APOE ε3/ε3 genotype Alzheimers Dement 7 2011 456 465
5. K.M. Hayden, J.M. McEvoy, C. Linnertz, D. Attix, M. Kuchibhatla, and A.M. Saunders et al. A homopolymer polymorphism in the TOMM40 gene contributes to cognitive performance in aging Alzheimers Dement 8 2012 381 388
6. Chu SH, Roeder K, Ferrell RE, Devlin B, DeMichele-Sweet MAA, Kamboh MI, et al. TOMM40 poly-T repeat lengths, age of onset and psychosis risk in Alzheimer disease. Neurobiol Aging 2011;32:2328e1-e9.
7. G. Jun, B.N. Vardarajan, J. Buros, C.E. Yu, M.V. Hawk, and B.A. Dombroski et al. Comprehensive search for Alzheimer disease susceptibility loci in the APOE region Arch Neurol 69 2012 1270 1279
8. C. Cruchaga, P. Nowotny, J.S.K. Kauwe, P.G. Ridge, K. Mayo, and S. Bertelsen et al. Association and expression analyses with single-nucleotide polymorphisms in TOMM40 in Alzheimer disease Arch Neurol 68 2011 1013 1019
9. A. Maruszak, B. Pepłońska, K. Safranow, M. Chodakowska-Zebrowska, M. Barcikowska, and C. Zekanowski TOMM40 rs10524523 polymorphism's role in late-onset Alzheimer's disease and in longevity J Alzheimers Dis 28 2012 309 322
10. A.D. Roses, M.W. Lutz, D.G. Crenshaw, I. Grossman, A.M. Saunders, and W.K. Gottschalk TOMM40 and APOE: requirements for replication studies of association with age of disease onset and enrichment of a clinical trial Alzheimers Dement 9 2013 132 136
11. D.G. Crenshaw, W.K. Gottschalk, M.W. Lutz, I. Grossman, A.M. Saunders, and J.R. Burke et al. Using genetics to enable studies on the prevention of Alzheimer's disease Clin Pharmacol Ther 93 2013 177 185
12. M.W. Lutz, D.G. Crenshaw, A.M. Saunders, and A.D. Roses Genetic variation as a single locus and age of onset for Alzheimer's disease Alzheimers Dement 6 2010 125 131
13. Roses AD. Comment on: Cruchaga C Nowotny P, Kauwe JS, et al. Association and expression analyses with single-nucleotide polymorphisms in TOMM40 in Alzheimer disease. Arch Neurol 2011;68:1013-1019 Available at: http://www.alzforum.org/pap/annotation.asp?powID=120717. Accessed February 21, 2012.
14. L.M. Bekris, F. Lutz, and C.E. Yu Functional analysis of APOE locus genetic variation implicates regional enhancers in the regulation of both TOMM40 and APOE J Hum Genet 57 2012 18 25
15. W. Koch, A. Ehrenhaft, K. Griesser, A. Pfeufer, J. Muller, and A. Schomig et al. TaqMan systems for genotyping of disease-related polymorphisms present in the gene encoding apolipoprotein E Clin Chem Lab Med 40 2002 1123 1131
16. M. Bengtsson, A. Stahlberg, P. Rorsman, and M. Kubista Gene expression profiling in single cells from the pancreatic islets of Langerhans reveals lognormal distribution of mRNA levels Genome Res 15 2005 1388 1392
17. D. Bruno, J.J. Nierenberg, J.C. Ritchie, M.W. Lutz, and N. Pomara Cerebrospinal fluid cortisol concentrations in healthy elderly are affected by both APOE and TOMM40 variants Psychoneuroendocrinology 37 2012 366 371
18. D. Bruno, N. Pomara, J. Nierenberg, J.C. Ritchie, M.W. Lutz, and H. Zetterberg et al. Levels of cerebrospinal fluid neurofilament light protein in healthy elderly vary as a function of TOMM40 variants Exp Gerontol 47 2012 347 352
19. L. Hedskog, J. Brohede, B. Wiehager, C.M. Pinho, P. Revathikumar, and L. Lilius et al. Biochemical studies of poly-T variants in the Alzheimer's disease associated TOMM40 gene J Alzheimers Dis 31 2012 527 536
20. J.D. Anderson, and J. Widom Poly(dA-dT) promoter elements increase the equilibrium accessibility of nucleosomal DNA target sites Mol Cell Biol 21 2001 3830 3839
21. E. Segal, and J. Widom Poly(dA:dT) tracts: major determinants of nucleosome organization Curr Opin Struct Biol 19 2009 65 71
22. A. Singleton, A. Myers, and J. Hardy The law of mass action applied to neurodegenerative disease: a hypothesis concerning the etiology and pathogenesis of complex diseases Hum Mol Genet 13 2004 R123 R126
23. C. Zarow, and J. Victoroff Increased apolipoprotein E mRNA in the hippocampus in Alzheimer disease and in rats after entorhinal cortex lesioning Exp Neurol 149 1998 79 86
24. T. Matsui, M. Ingelsson, H. Fukumoto, K. Ramasamy, H. Kowa, and M.P. Frosch et al. Expression of APP pathway mRNAs and proteins in Alzheimer's disease Brain Res 1161 2007 116 123
25. A. Akram, J. Schmeidler, P. Katsel, P.R. Hof, and V. Haroutunian Association of ApoE and LRP mRNA levels with dementia and AD neuropathology Neurobiol Aging 33 2012 628.e1 628.e14
26. T.S. Lee, L. Goh, M.S. Chong, S.M. Chua, G.B. Chen, and L. Feng et al. Downregulation of TOMM40 expression in the blood of Alzheimer disease subjects compared with matched control subjects J Psychiatric Res 46 2012 828 830
27. M. Manczak, M.J. Calkins, and P.H. Reddy Impaired mitochondrial dynamics and abnormal interaction of amyloid beta with mitochondrial protein Drp1 in neurons from patients with Alzheimer's disease: implications for neuronal damage Hum Mol Genet 20 2011 2495 2509
28. R.H. Swerdlow, J.M. Burns, and S.M. Khan The Alzheimer's disease mitochondrial cascade hypothesis J Alzheimers Dis 20 2010 265 279
29. R. Swerdlow Mitochondria and cell bioenergetics: increasingly recognized components and a possible etiologic cause of Alzheimer's disease Antiox Redox Signal 16 2012 1434 1455
30. V. Kozjak-Pavlovic, K. Ross, N. Benlasfer, S. Kimmig, A. Karlas, and T. Rudel Conserved roles of Sam50 and metaxins in VDAC biogenesis EMBO Rep 8 2007 576 582
31. L. Devi, and H.K. Anandatheerthavarada Mitochondrial trafficking of APP and alpha synuclein: relevance to mitochondrial dysfunction in Alzheimer's and Parkinson's diseases Biochim Biophys Acta 1802 2010 11 19
32. C.A. Hansson Petersen, N. Alikhani, H. Behbahani, B. Wiehager, P.F. Pavlov, and I. Alafuzoff et al. The amyloid β-peptide is imported into mitochondria via the TOM import machinery and localized to mitochondrial cristae Proc Natl Acad Sci U S A 105 2008 13145 13150
33. Linnertz C, Saunders AM, Lutz MW, Crenshaw DM, Grossman I, Burns DK, Whitfield KE, et al. Characterization of the Poly-T Variant in the TOMM40 Gene in Diverse Populations. PLoS ONE 2012;7:e30994.