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1. Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways

Author

O'Dushlaine, Colm, Rossin, Lizzy, Lee, Phil H, Duncan, Laramie, Parikshak, Neelroop N, Newhouse, Stephen, Ripke, Stephan, Neale, Benjamin M, Purcell, Shaun M, Posthuma, Danielle, Nurnberger, John I, Lee, S Hong, Faraone, Stephen V, Perlis, Roy H, Mowry, Bryan J, Thapar, Anita, Goddard, Michael E, Witte, John S, Absher, Devin, Agartz, Ingrid, Akil, Huda, Amin, Farooq, Andreassen, Ole A, Anjorin, Adebayo, Anney, Richard, Anttila, Verneri, Arking, Dan E, Asherson, Philip, Azevedo, Maria H, Backlund, Lena, Badner, Judith A, Bailey, Anthony J, Banaschewski, Tobias, Barchas, Jack D, Barnes, Michael R, Barrett, Thomas B, Bass, Nicholas, Battaglia, Agatino, Bauer, Michael, Bayes, Monica, Bellivier, Frank, Bergen, Sarah E, Berrettini, Wade, Betancur, Catalina, Bettecken, Thomas, Biederman, Joseph, Binder, Elisabeth B, Black, Donald W, Blackwood, Douglas HR, Bloss, Cinnamon S, Boehnke, Michael, Boomsma, Dorret I, Breuer, Rene, Bruggeman, Richard, Cormican, Paul, Buccola, Nancy G, Buitelaar, Jan K, Bunney, William E, Buxbaum, Joseph D, Byerley, William F, Byrne, Enda M, Caesar, Sian, Cahn, Wiepke, Cantor, Rita M, Casas, Miguel, Chakravarti, Aravinda, Chambert, Kimberly, Choudhury, Khalid, Cichon, Sven, Mattheisen, Manuel, Cloninger, C Robert, Collier, David A, Cook, Edwin H, Coon, Hilary, Cormand, Bru, Corvin, Aiden, Coryell, William H, Craig, David W, Craig, Ian W, Crosbie, Jennifer, Cuccaro, Michael L, Curtis, David, Czamara, Darina, Datta, Susmita, Dawson, Geraldine, Day, Richard, De Geus, Eco J, Degenhardt, Franziska, Djurovic, Srdjan, Donohoe, Gary J, Doyle, Alysa E, Duan, Jubao, Dudbridge, Frank, Duketis, Eftichia, Ebstein, Richard P, Edenberg, Howard J, Elia, Josephine, Ennis, Sean, Etain, Bruno, and Fanous, Ayman

Subjects
Human Genome, Brain Disorders, Serious Mental Illness, Schizophrenia, Genetics, Depression, Mental Health, Aetiology, 2.1 Biological and endogenous factors, Mental health, Good Health and Well Being, Brain, Databases, Genetic, Genetic Predisposition to Disease, Genome-Wide Association Study, Histones, Humans, Mental Disorders, Signal Transduction, Network and Pathway Analysis Subgroup of Psychiatric Genomics Consortium, Neurosciences, Psychology, Cognitive Sciences, Neurology & Neurosurgery
Abstract

Genome-wide association studies (GWAS) of psychiatric disorders have identified multiple genetic associations with such disorders, but better methods are needed to derive the underlying biological mechanisms that these signals indicate. We sought to identify biological pathways in GWAS data from over 60,000 participants from the Psychiatric Genomics Consortium. We developed an analysis framework to rank pathways that requires only summary statistics. We combined this score across disorders to find common pathways across three adult psychiatric disorders: schizophrenia, major depression and bipolar disorder. Histone methylation processes showed the strongest association, and we also found statistically significant evidence for associations with multiple immune and neuronal signaling pathways and with the postsynaptic density. Our study indicates that risk variants for psychiatric disorders aggregate in particular biological pathways and that these pathways are frequently shared between disorders. Our results confirm known mechanisms and suggest several novel insights into the etiology of psychiatric disorders.

Published
2015

2. Genome-wide meta-analysis of myopia and hyperopia provides evidence for replication of 11 loci.

Author

Simpson, Claire L, Wojciechowski, Robert, Oexle, Konrad, Murgia, Federico, Portas, Laura, Li, Xiaohui, Verhoeven, Virginie JM, Vitart, Veronique, Schache, Maria, Hosseini, S Mohsen, Hysi, Pirro G, Raffel, Leslie J, Cotch, Mary Frances, Chew, Emily, Klein, Barbara EK, Klein, Ronald, Wong, Tien Yin, van Duijn, Cornelia M, Mitchell, Paul, Saw, Seang Mei, Fossarello, Maurizio, Wang, Jie Jin, DCCT/EDIC Research Group, Polašek, Ozren, Campbell, Harry, Rudan, Igor, Oostra, Ben A, Uitterlinden, André G, Hofman, Albert, Rivadeneira, Fernando, Amin, Najaf, Karssen, Lennart C, Vingerling, Johannes R, Döring, Angela, Bettecken, Thomas, Bencic, Goran, Gieger, Christian, Wichmann, H-Erich, Wilson, James F, Venturini, Cristina, Fleck, Brian, Cumberland, Phillippa M, Rahi, Jugnoo S, Hammond, Chris J, Hayward, Caroline, Wright, Alan F, Paterson, Andrew D, Baird, Paul N, Klaver, Caroline CW, Rotter, Jerome I, Pirastu, Mario, Meitinger, Thomas, Bailey-Wilson, Joan E, and Stambolian, Dwight

Subjects
DCCT/EDIC Research Group, Eye, Humans, Hyperopia, Myopia, Genetic Predisposition to Disease, Genetic Markers, Age of Onset, Linkage Disequilibrium, Phenotype, Polymorphism, Single Nucleotide, Alleles, Adult, Aged, Aged, 80 and over, Middle Aged, European Continental Ancestry Group, Female, Male, Genetic Association Studies, and over, Polymorphism, Single Nucleotide, General Science & Technology
Abstract

Refractive error (RE) is a complex, multifactorial disorder characterized by a mismatch between the optical power of the eye and its axial length that causes object images to be focused off the retina. The two major subtypes of RE are myopia (nearsightedness) and hyperopia (farsightedness), which represent opposite ends of the distribution of the quantitative measure of spherical refraction. We performed a fixed effects meta-analysis of genome-wide association results of myopia and hyperopia from 9 studies of European-derived populations: AREDS, KORA, FES, OGP-Talana, MESA, RSI, RSII, RSIII and ERF. One genome-wide significant region was observed for myopia, corresponding to a previously identified myopia locus on 8q12 (p = 1.25×10(-8)), which has been reported by Kiefer et al. as significantly associated with myopia age at onset and Verhoeven et al. as significantly associated to mean spherical-equivalent (MSE) refractive error. We observed two genome-wide significant associations with hyperopia. These regions overlapped with loci on 15q14 (minimum p value = 9.11×10(-11)) and 8q12 (minimum p value 1.82×10(-11)) previously reported for MSE and myopia age at onset. We also used an intermarker linkage- disequilibrium-based method for calculating the effective number of tests in targeted regional replication analyses. We analyzed myopia (which represents the closest phenotype in our data to the one used by Kiefer et al.) and showed replication of 10 additional loci associated with myopia previously reported by Kiefer et al. This is the first replication of these loci using myopia as the trait under analysis. "Replication-level" association was also seen between hyperopia and 12 of Kiefer et al.'s published loci. For the loci that show evidence of association to both myopia and hyperopia, the estimated effect of the risk alleles were in opposite directions for the two traits. This suggests that these loci are important contributors to variation of refractive error across the distribution.

Published
2014

3. Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs.

Author

Absher, Devin, Agartz, Ingrid, Akil, Huda, Amin, Farooq, Andreassen, Ole, Anjorin, Adebayo, Anney, Richard, Anttila, Verneri, Arking, Dan, Asherson, Philip, Azevedo, Maria, Backlund, Lena, Badner, Judith, Bailey, Anthony, Banaschewski, Tobias, Barchas, Jack, Barnes, Michael, Barrett, Thomas, Bass, Nicholas, Battaglia, Agatino, Bauer, Michael, Bayés, Mònica, Bellivier, Frank, Bergen, Sarah, Berrettini, Wade, Betancur, Catalina, Bettecken, Thomas, Biederman, Joseph, Binder, Elisabeth, Black, Donald, Blackwood, Douglas, Boehnke, Michael, Boomsma, Dorret, Breen, Gerome, Breuer, René, Bruggeman, Richard, Cormican, Paul, Buccola, Nancy, Buitelaar, Jan, Bunney, William, Buxbaum, Joseph, Byerley, William, Byrne, Enda, Caesar, Sian, Cahn, Wiepke, Cantor, Rita, Casas, Miguel, Chakravarti, Aravinda, Chambert, Kimberly, Choudhury, Khalid, Cichon, Sven, Cloninger, C, Collier, David, Cook, Edwin, Coon, Hilary, Cormand, Bru, Corvin, Aiden, Coryell, William, Craig, David, Craig, Ian, Crosbie, Jennifer, Cuccaro, Michael, Curtis, David, Czamara, Darina, Datta, Susmita, Dawson, Geraldine, Day, Richard, De Geus, Eco, Degenhardt, Franziska, Djurovic, Srdjan, Donohoe, Gary, Doyle, Alysa, Duan, Jubao, Dudbridge, Frank, Duketis, Eftichia, Ebstein, Richard, Edenberg, Howard, Elia, Josephine, Ennis, Sean, Etain, Bruno, Fanous, Ayman, Farmer, Anne, Ferrier, I, Flickinger, Matthew, Fombonne, Eric, Foroud, Tatiana, Frank, Josef, Franke, Barbara, Fraser, Christine, Freedman, Robert, Giegling, Ina, Gill, Michael, Gordon, Scott, Gordon-Smith, Katherine, Green, Elaine, Greenwood, Tiffany, Grice, Dorothy, Gross, Magdalena, Grozeva, Detelina, and Guan, Weihua

Subjects
Adult, Attention Deficit Disorder with Hyperactivity, Bipolar Disorder, Child, Child Development Disorders, Pervasive, Crohn Disease, Depressive Disorder, Major, Genetic Heterogeneity, Genetic Predisposition to Disease, Genome, Human, Genome-Wide Association Study, Humans, Inheritance Patterns, Mental Disorders, Polymorphism, Single Nucleotide, Schizophrenia
Abstract

Most psychiatric disorders are moderately to highly heritable. The degree to which genetic variation is unique to individual disorders or shared across disorders is unclear. To examine shared genetic etiology, we use genome-wide genotype data from the Psychiatric Genomics Consortium (PGC) for cases and controls in schizophrenia, bipolar disorder, major depressive disorder, autism spectrum disorders (ASD) and attention-deficit/hyperactivity disorder (ADHD). We apply univariate and bivariate methods for the estimation of genetic variation within and covariation between disorders. SNPs explained 17-29% of the variance in liability. The genetic correlation calculated using common SNPs was high between schizophrenia and bipolar disorder (0.68 ± 0.04 s.e.), moderate between schizophrenia and major depressive disorder (0.43 ± 0.06 s.e.), bipolar disorder and major depressive disorder (0.47 ± 0.06 s.e.), and ADHD and major depressive disorder (0.32 ± 0.07 s.e.), low between schizophrenia and ASD (0.16 ± 0.06 s.e.) and non-significant for other pairs of disorders as well as between psychiatric disorders and the negative control of Crohns disease. This empirical evidence of shared genetic etiology for psychiatric disorders can inform nosology and encourages the investigation of common pathophysiologies for related disorders.

Published
2013

4. Resistance to antidepressant treatment is associated with polymorphisms in the leptin gene, decreased leptin mRNA expression, and decreased leptin serum levels

Author

Kloiber, Stefan, Ripke, Stephan, Kohli, Martin A., Reppermund, Simone, Salyakina, Daria, Uher, Rudolf, McGuffin, Peter, Perlis, Roy H., Hamilton, Steven P., Pütz, Benno, Hennings, Johannes, Brückl, Tanja, Klengel, Torsten, Bettecken, Thomas, Ising, Marcus, Uhr, Manfred, Dose, Tatjana, Unschuld, Paul G., Zihl, Josef, Binder, Elisabeth, Müller-Myhsok, Bertram, Holsboer, Florian, and Lucae, Susanne

Published
2013
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5. A Candidate Gene Association Study Identifies DAPL1 as a Female-Specific Susceptibility Locus for Age-Related Macular Degeneration (AMD)

Author

Grassmann, Felix, Friedrich, Ulrike, Fauser, Sascha, Schick, Tina, Milenkovic, Andrea, Schulz, Heidi L., von Strachwitz, Claudia N., Bettecken, Thomas, Lichtner, Peter, Meitinger, Thomas, Arend, Nicole, Wolf, Armin, Haritoglou, Christos, Rudolph, Guenther, Chakravarthy, Usha, Silvestri, Giuliana, McKay, Gareth J., Freitag-Wolf, Sandra, Krawczak, Michael, Smith, R. Theodore, Merriam, John C., Merriam, Joanna E., Allikmets, Rando, Heid, Iris M., and Weber, Bernhard H. F.

Published
2015
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6. SNP-Based Analysis of Genetic Substructure in the German Population

Author

Steffens, Michael, Lamina, Claudia, Illig, Thomas, Bettecken, Thomas, Vogler, Rainer, Entz, Patricia, Suk, Eun-Kyung, Toliat, Mohammad Reza, Klopp, Norman, Caliebe, Amke, König, Inke R., Köhler, Karola, Lüdemann, Jan, Lacava, Amalia Diaz, Fimmers, Rolf, Lichtner, Peter, Ziegler, Andreas, Wolf, Andreas, Krawczak, Michael, Nürnberg, Peter, Hampe, Jochen, Schreiber, Stefan, Meitinger, Thomas, Wichmann, H.-Erich, Roeder, Kathryn, Wienker, Thomas F., and Baur, Max P.

Published
2006

8. Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium

Author

Verhoeven, Virginie J. M., Hysi, Pirro G., Saw, Seang-Mei, Vitart, Veronique, Mirshahi, Alireza, Guggenheim, Jeremy A., Cotch, Mary Frances, Yamashiro, Kenji, Baird, Paul N., Mackey, David A., Wojciechowski, Robert, Ikram, M. Kamran, Hewitt, Alex W., Duggal, Priya, Janmahasatian, Sarayut, Khor, Chiea-Chuen, Fan, Qiao, Zhou, Xin, Young, Terri L., Tai, E-Shyong, Goh, Liang-Kee, Li, Yi-Ju, Aung, Tin, Vithana, Eranga, Teo, Yik-Ying, Tay, Wanting, Sim, Xueling, Rudan, Igor, Hayward, Caroline, Wright, Alan F., Polasek, Ozren, Campbell, Harry, Wilson, James F., Fleck, Brian W., Nakata, Isao, Yoshimura, Nagahisa, Yamada, Ryo, Matsuda, Fumihiko, Ohno-Matsui, Kyoko, Nag, Abhishek, McMahon, George, Pourcain, Beate St., Lu, Yi, Rahi, Jugnoo S., Cumberland, Phillippa M., Bhattacharya, Shomi, Simpson, Claire L., Atwood, Larry D., Li, Xiaohui, Raffel, Leslie J., Murgia, Federico, Portas, Laura, Despriet, Dominiek D. G., van Koolwijk, Leonieke M. E., Wolfram, Christian, Lackner, Karl J., Tönjes, Anke, Mägi, Reedik, Lehtimäki, Terho, Kähönen, Mika, Esko, Tõnu, Metspalu, Andres, Rantanen, Taina, Pärssinen, Olavi, Klein, Barbara E., Meitinger, Thomas, Spector, Timothy D., Oostra, Ben A., Smith, Albert V., de Jong, Paulus T. V. M., Hofman, Albert, Amin, Najaf, Karssen, Lennart C., Rivadeneira, Fernando, Vingerling, Johannes R., Eiríksdóttir, Guðný, Gudnason, Vilmundur, Döring, Angela, Bettecken, Thomas, Uitterlinden, André G., Williams, Cathy, Zeller, Tanja, Castagné, Raphaële, Oexle, Konrad, van Duijn, Cornelia M., Iyengar, Sudha K., Mitchell, Paul, Wang, Jie Jin, Höhn, René, Pfeiffer, Norbert, Bailey-Wilson, Joan E., Stambolian, Dwight, Wong, Tien-Yin, Hammond, Christopher J., and Klaver, Caroline C. W.

Published
2012
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10. A genomewide association study points to multiple loci that predict antidepressant drug treatment outcome in depression

Author

Ising, Marcus, Lucae, Susanne, Binder, Elisabeth B., Bettecken, Thomas, Uhr, Manfred, Ripke, Stephan, Kohli, Martin A., Hennings, Johannes M., Horstmann, Sonja, Kloiber, Stefan, Menke, Andreas, Bondy, Brigitta, Rupprecht, Rainer, Domschke, Katharina, Baune, Bernhard T., Arolt, Volker, Rush, A. John, Holsboer, Florian, and Muller-Myhsok, Bertram

Subjects
Depression, Mental -- Care and treatment, Depression, Mental -- Genetic aspects, Depression, Mental -- Patient outcomes, Depression, Mental -- Research, Antidepressants -- Dosage and administration, Antidepressants -- Research, Outcome and process assessment (Health Care) -- Genetic aspects, Outcome and process assessment (Health Care) -- Research, Health, Psychology and mental health
Published
2009

12. Additional file 1 of Nucleosome DNA sequence structure of isochores

Author

Zakharia M Frenkel, Bettecken, Thomas, and Trifonov, Edward N

Abstract

Additional file 1:Table S1 - Trinucleotide frequencies in the human genome. The table contains the list of all 64 possible trinucleotides in the human genome, ordered by their frequency in the respective isochore L1, L2, H1, H2 and H3. Table S2 - Trinucleotide frequencies in the mouse genome. The table contains the list of all 64 possible trinucleotides in the mouse genome, ordered by their frequency in the respective isochore L1, L2, H1, H2 and H3. Table S3 - Trinucleotide frequencies in the chicken genome. The table contains the list of all 64 possible trinucleotides in the chicken genome, ordered by their frequency in the respective isochore L1, L2, H1, H2, H3 and H4. (DOC 780 KB)

Published
2020
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16. Linkage disequilibrium patterns and tagSNP transferability among European populations

Author

Mueller, Jakob C., Lohmussaar, Elin, Magi, Reedik, Remm, Maido, Bettecken, Thomas, Lichtner, Peter, Biskup, Saskia, Illig, Thomas, Pfeufer, Arne, Luedemann, Jan, Schreiber, Stefan, Pramstaller, Peter, Pichler, Irene, Romeo, Giovanni, Gaddi, Anthony, Testa, Alessandra, Wichmann, Heinz-Erich, Metspalu, Andres, and Meitinger, Thomas

Subjects
Genomes -- Research, Genetics -- Research, Biological sciences
Published
2005

17. Meta-analysis of genome-wide association studies in five cohorts reveals common variants in RBFOX1, a regulator of tissue-specific splicing, associated with refractive error

Author

Stambolian, Dwight, Wojciechowski, Robert, Oexle, Konrad, Pirastu, Mario, Li, Xiaohui, Raffel, Leslie J., Cotch, Mary Frances, Chew, Emily Y., Klein, Barbara, Klein, Ronald, Wong, Tien Y., Simpson, Claire L., Klaver, Caroline C.W., van Duijn, Cornelia M., Verhoeven, Virginie J.M., Baird, Paul N., Vitart, Veronique, Paterson, Andrew D., Mitchell, Paul, Saw, Seang Mei, Fossarello, Maurizio, Kazmierkiewicz, Krista, Murgia, Federico, Portas, Laura, Schache, Maria, Richardson, Andrea, Xie, Jing, Wang, Jie Jin, Rochtchina, Elena, Viswanathan, Ananth C., Hayward, Caroline, Wright, Alan F., Polašek, Ozren, Campbell, Harry, Rudan, Igor, Oostra, Ben A., Uitterlinden, André G., Hofman, Albert, Rivadeneira, Fernando, Amin, Najaf, Karssen, Lennart C., Vingerling, Johannes R., Hosseini, S.M., Döring, Angela, Bettecken, Thomas, Vatavuk, Zoran, Gieger, Christian, Wichmann, H.-Erich, Wilson, James F., Fleck, Brian, Foster, Paul J., Topouzis, Fotis, McGuffin, Peter, Sim, Xueling, Inouye, Michael, Holliday, Elizabeth G., Attia, John, Scott, Rodney J., Rotter, Jerome I., Meitinger, Thomas, and Bailey-Wilson, Joan E.

Published
2013
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22. Variants in the neuronal nitric oxide synthase (nNOS, NOS1) gene are associated with restless legs syndrome

Author

Winkelmann, Juliane, Lichtner, Peter, Schormair, Barbara, Uhr, Manfred, Hauk, Stephanie, Stiasny-Kolster, Karin, Trenkwalder, Claudia, Paulus, Walter, Peglau, Ines, Eisensehr, Ilonka, Illig, Thomas, Wichmann, Erich H., Pfister, Hildegard, Golic, Jelena, Bettecken, Thomas, Pütz, Benno, Holsboer, Florian, Meitinger, Thomas, and Müller-Myhsok, Bertram

Published
2008
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23. Prevalence, Spectrum, and Functional Characterization of Melanocortin-4 Receptor Gene Mutations in a Representative Population-Based Sample and Obese Adults from Germany

Author

Hinney, Anke, Bettecken, Thomas, Tarnow, Patrick, Brumm, Harald, Reichwald, Kathrin, Lichtner, Peter, Scherag, André, Nguyen, Thuy Trang, Schlumberger, Pia, Rief, Winfried, Vollmert, Caren, Illig, Thomas, Wichmann, H Erich, Schäfer, Helmut, Platzer, Matthias, Biebermann, Heike, Meitinger, Thomas, and Hebebrand, Johannes

Published
2006

25. Ghrelin Receptor Gene: Identification of Several Sequence Variants in Extremely Obese Children and Adolescents, Healthy Normal-Weight and Underweight Students, and Children with Short Normal Stature

Author

Wang, Hai-Jun, Geller, Frank, Dempfle, Astrid, Schäuble, Nadine, Friedel, Susann, Lichtner, Peter, Fontenla-Horro, Francisco, Wudy, Stefan, Hagemann, Sandra, Gortner, Ludwig, Huse, Klaus, Remschmidt, Helmut, Bettecken, Thomas, Meitinger, Thomas, Schäfer, Helmut, Hebebrand, Johannes, and Hinney, Anke

Published
2004

28. The endocrine stress response is linked to one specific locus on chromosome 3 in a mouse model based on extremes in trait anxiety

Author

Gonik Mariya, Frank Elisabeth, Keßler Melanie S, Czamara Darina, Bunck Mirjam, Yen Yi-Chun, Pütz Benno, Holsboer Florian, Bettecken Thomas, Landgraf Rainer, Müller-Myhsok Bertram, Touma Chadi, and Czibere Ludwig

Subjects
F2, Corticosterone, Stress response, HPA axis, QTL, Biotechnology, TP248.13-248.65, Genetics, QH426-470
Abstract

Abstract Background The hypothalamic-pituitary-adrenal (HPA) axis is essential to control physiological stress responses in mammals. Its dysfunction is related to several mental disorders, including anxiety and depression. The aim of this study was to identify genetic loci underlying the endocrine regulation of the HPA axis. Method High (HAB) and low (LAB) anxiety-related behaviour mice were established by selective inbreeding of outbred CD-1 mice to model extremes in trait anxiety. Additionally, HAB vs. LAB mice exhibit comorbid characteristics including a differential corticosterone response upon stress exposure. We crossbred HAB and LAB lines to create F1 and F2 offspring. To identify the contribution of the endocrine phenotypes to the total phenotypic variance, we examined multiple behavioural paradigms together with corticosterone secretion-based phenotypes in F2 mice by principal component analysis. Further, to pinpoint the genomic loci of the quantitative trait of the HPA axis stress response, we conducted genome-wide multipoint oligogenic linkage analyses based on Bayesian Markov chain Monte Carlo approach as well as parametric linkage in three-generation pedigrees, followed by a two-dimensional scan for epistasis and association analysis in freely segregating F2 mice using 267 single-nucleotide polymorphisms (SNPs), which were identified to consistently differ between HAB and LAB mice as genetic markers. Results HPA axis reactivity measurements and behavioural phenotypes were represented by independent principal components and demonstrated no correlation. Based on this finding, we identified one single quantitative trait locus (QTL) on chromosome 3 showing a very strong evidence for linkage (2ln (L-score) > 10, LOD > 23) and significant association (lowest Bonferroni adjusted p < 10-28) to the neuroendocrine stress response. The location of the linkage peak was estimated at 42.3 cM (95% confidence interval: 41.3 - 43.3 cM) and was shown to be in epistasis (p-adjusted < 0.004) with the locus at 35.3 cM on the same chromosome. The QTL harbours genes involved in steroid synthesis and cardiovascular effects. Conclusion The very prominent effect on stress-induced corticosterone secretion of the genomic locus on chromosome 3 and its involvement in epistasis highlights the critical role of this specific locus in the regulation of the HPA axis.

Published
2012
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29. VarWatch—A stand-alone software tool for variant matching

Author

Fredrich, Broder, primary, Schmöhl, Marcus, additional, Junge, Olaf, additional, Gundlach, Sven, additional, Ellinghaus, David, additional, Pfeufer, Arne, additional, Bettecken, Thomas, additional, Siddiqui, Roman, additional, Franke, Andre, additional, Wienker, Thomas F., additional, Hoeppner, Marc P., additional, and Krawczak, Michael, additional

Published
2019
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30. Human nucleosomes: special role of CG dinucleotides and Alu-nucleosomes

Author

Trifonov Edward N, Frenkel Zakharia M, and Bettecken Thomas

Subjects
Biotechnology, TP248.13-248.65, Genetics, QH426-470
Abstract

Abstract Background The periodical occurrence of dinucleotides with a period of 10.4 bases now is undeniably a hallmark of nucleosome positioning. Whereas many eukaryotic genomes contain visible and even strong signals for periodic distribution of dinucleotides, the human genome is rather featureless in this respect. The exact sequence features in the human genome that govern the nucleosome positioning remain largely unknown. Results When analyzing the human genome sequence with the positional autocorrelation method, we found that only the dinucleotide CG shows the 10.4 base periodicity, which is indicative of the presence of nucleosomes. There is a high occurrence of CG dinucleotides that are either 31 (10.4 × 3) or 62 (10.4 × 6) base pairs apart from one another - a sequence bias known to be characteristic of Alu-sequences. In a similar analysis with repetitive sequences removed, peaks of repeating CG motifs can be seen at positions 10, 21 and 31, the nearest integers of multiples of 10.4. Conclusions Although the CG dinucleotides are dominant, other elements of the standard nucleosome positioning pattern are present in the human genome as well. The positional autocorrelation analysis of the human genome demonstrates that the CG dinucleotide is, indeed, one visible element of the human nucleosome positioning pattern, which appears both in Alu sequences and in sequences without repeats. The dominant role that CG dinucleotides play in organizing human chromatin is to indicate the involvement of human nucleosomes in tuning the regulation of gene expression and chromatin structure, which is very likely due to cytosine-methylation/-demethylation in CG dinucleotides contained in the human nucleosomes. This is further confirmed by the positions of CG-periodical nucleosomes on Alu sequences. Alu repeats appear as monomers, dimers and trimers, harboring two to six nucleosomes in a run. Considering the exceptional role CG dinucleotides play in the nucleosome positioning, we hypothesize that Alu-nucleosomes, especially, those that form tightly positioned runs, could serve as "anchors" in organizing the chromatin in human cells.

Published
2011
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31. Nucleosome DNA sequence structure of isochores

Author

Trifonov Edward N, Bettecken Thomas, and Frenkel Zakharia M

Subjects
Biotechnology, TP248.13-248.65, Genetics, QH426-470
Abstract

Abstract Background Significant differences in G+C content between different isochore types suggest that the nucleosome positioning patterns in DNA of the isochores should be different as well. Results Extraction of the patterns from the isochore DNA sequences by Shannon N-gram extension reveals that while the general motif YRRRRRYYYYYR is characteristic for all isochore types, the dominant positioning patterns of the isochores vary between TAAAAATTTTTA and CGGGGGCCCCCG due to the large differences in G+C composition. This is observed in human, mouse and chicken isochores, demonstrating that the variations of the positioning patterns are largely G+C dependent rather than species-specific. The species-specificity of nucleosome positioning patterns is revealed by dinucleotide periodicity analyses in isochore sequences. While human sequences are showing CG periodicity, chicken isochores display AG (CT) periodicity. Mouse isochores show very weak CG periodicity only. Conclusions Nucleosome positioning pattern as revealed by Shannon N-gram extension is strongly dependent on G+C content and different in different isochores. Species-specificity of the pattern is subtle. It is reflected in the choice of preferentially periodical dinucleotides.

Published
2011
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32. Systematic mutation analysis of KIAA0767 and KIAA1646 in chromosome 22q-linked periodic catatonia

Author

Gawlik Micha, Rubie Claudia, Siekiera Markus, Kohlmann Bernd, Stöber Gerald, Möller-Ehrlich Kerstin, Meitinger Thomas, and Bettecken Thomas

Subjects
Psychiatry, RC435-571
Abstract

Abstract Background Periodic catatonia is a familial subtype of schizophrenia characterized by hyperkinetic and akinetic episodes, followed by a catatonic residual syndrome. The phenotype has been evaluated in two independent genome-wide linkage scans with evidence for a major locus on chromosome 15q15, and a second independent locus on chromosome 22qtel. Methods In the positional and brain-expressed candidate genes KIAA0767 and KIAA1646, we searched for variants in the complete exons and adjacent splice-junctions as well as in parts of the 5'- and 3'-untranslated regions by means of a systematic mutation screening in individuals from chromosome 22q-linked pedigrees. Results The mutation scan revealed 24 single nucleotide polymorphisms, among them two rare codon variants (KIAA0767: S159I; KIAA1646: V338G). However, both were neither found segregating with the disease in the respective pedigree nor found at a significant frequency in a case-control association sample. Conclusion Starting from linkage signals at chromosome22qtel in periodic catatonia, we screened two positional brain-expressed candidate genes for genetic variation. Our study excludes genetic variations in the coding and putative promoter regions of KIAA0767 and KIAA1646 as causative factors for periodic catatonia.

Published
2005
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33. Genetic Differences in the Immediate Transcriptome Response to Stress Predict Risk-Related Brain Function and Psychiatric Disorders

Author

Arloth, Janine, Bogdan, Ryan, Altmann, Andre, Lawson, William B, Lewis, Glyn, MacIntyre, Donald, Maier, Wolfgang, Mattheisen, Manuel, McGrath, Patrick J, McIntosh, Andrew, McLean, Alan, Middeldorp, Christel M, Middleton, Lefkos, Trümbach, Dietrich, Montgomery, Grant M, Murphy, Shawn N, Nauck, Matthias, Nolen, Willem A, Nyholt, Dale R, O'Donovan, Michael, Oskarsson, Högni, Pedersen, Nancy, Scheftner, William A, Schulz, Andrea, Wurst, Wolfgang, Schulze, Thomas G, Shyn, Stanley I, Sigurdsson, Engilbert, Slager, Susan L, Smit, Johannes H, Stefansson, Hreinn, Steffens, Michael, Thorgeirsson, Thorgeir, Tozzi, Federica, Treutlein, Jens, Mehta, Divya, Uhr, Manfred, van den Oord, Edwin J C G, Van Grootheest, Gerard, Völzke, Henry, Weilburg, Jeffrey B, Willemsen, Gonneke, Zitman, Frans G, Neale, Benjamin, Daly, Mark, Levinson, Douglas F, Sullivan, Patrick F, Klengel, Torsten, Erhardt, Angelika, Carey, Caitlin E, Conley, Emily Drabant, Consortium, Major Depressive Disorder Working Group of the Psychiatric Genomics, Weber, Peter, Ruepp, Andreas, Müller-Myhsok, Bertram, Hariri, Ahmad R, Binder, Elisabeth B, PGC, Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium, Ripke, Stephan, Wray, Naomi R, Lewis, Cathryn M, Hamilton, Steven P, Weissman, Myrna M, Frishman, Goar, Breen, Gerome, Byrne, Enda M, Blackwood, Douglas H R, Boomsma, Dorret I, Cichon, Sven, Heath, Andrew C, Holsboer, Florian, Lucae, Susanne, Madden, Pamela A F, Martin, Nicholas G, Menke, Andreas, McGuffin, Peter, Muglia, Pierandrea, Noethen, Markus M, Penninx, Brenda P, Pergadia, Michele L, Potash, James B, Rietschel, Marcella, Lin, Danyu, Shi, Jianxin, Wagner, Klaus V, Steinberg, Stacy, Grabe, Hans J, Lichtenstein, Paul, Magnusson, Patrik, Perlis, Roy H, Preisig, Martin, Smoller, Jordan W, Stefansson, Kari, Uher, Rudolf, Kutalik, Zoltan, Balsevich, Georgia, Tansey, Katherine E, Teumer, Alexander, Viktorin, Alexander, Barnes, Michael R, Bettecken, Thomas, Breuer, René, Castro, Victor M, Churchill, Susanne E, Coryell, William H, Schmidt, Mathias V, Craddock, Nick, Craig, Ian W, Czamara, Darina, De Geus, Eco J, Degenhardt, Franziska, Farmer, Anne E, Fava, Maurizio, Frank, Josef, Gainer, Vivian S, Gallagher, Patience J, Karbalai, Nazanin, Gordon, Scott D, Goryachev, Sergey, Gross, Magdalena, Guipponi, Michel, Henders, Anjali K, Herms, Stefan, Hickie, Ian B, Hoefels, Susanne, Hoogendijk, Witte, Hottenga, Jouke Jan, Iosifescu, Dan V, Ising, Marcus, Jones, Ian, Jones, Lisa, Jung-Ying, Tzeng, Knowles, James A, Kohane, Isaac S, Kohli, Martin A, Korszun, Ania, Landen, Mikael, Psychiatry, NCA - Neurobiology of mental health, Molecular Microbiology, Biological Psychology, and Neuroscience Campus Amsterdam - Neurobiology of Mental Health

Subjects
Male, Netherlands Twin Register (NTR), genetics [Transcriptome], Genome-wide association study, genetics [Stress, Psychological], Disease, genetics [Mental Disorders], Transcriptome, Cohort Studies, Mice, 0302 clinical medicine, Glucocorticoid receptor, Risk Factors, Gene Regulatory Networks, 0303 health sciences, General Neuroscience, Mental Disorders, Brain, genetics [Genetic Variation], Schizophrenia, genetics [Gene Regulatory Networks], genetics [Polymorphism, Single Nucleotide], medicine.medical_specialty, Neuroscience(all), BF, diagnosis [Mental Disorders], Biology, Polymorphism, Single Nucleotide, Article, 03 medical and health sciences, physiology [Brain], SDG 3 - Good Health and Well-being, Genetic variation, medicine, Animals, Humans, ddc:610, Psychiatry, 030304 developmental biology, Mechanism (biology), Genetic Variation, medicine.disease, diagnosis [Stress, Psychological], Mice, Inbred C57BL, Endophenotype, RC0321, 030217 neurology & neurosurgery, Stress, Psychological, Forecasting
Abstract

Summary Depression risk is exacerbated by genetic factors and stress exposure; however, the biological mechanisms through which these factors interact to confer depression risk are poorly understood. One putative biological mechanism implicates variability in the ability of cortisol, released in response to stress, to trigger a cascade of adaptive genomic and non-genomic processes through glucocorticoid receptor (GR) activation. Here, we demonstrate that common genetic variants in long-range enhancer elements modulate the immediate transcriptional response to GR activation in human blood cells. These functional genetic variants increase risk for depression and co-heritable psychiatric disorders. Moreover, these risk variants are associated with inappropriate amygdala reactivity, a transdiagnostic psychiatric endophenotype and an important stress hormone response trigger. Network modeling and animal experiments suggest that these genetic differences in GR-induced transcriptional activation may mediate the risk for depression and other psychiatric disorders by altering a network of functionally related stress-sensitive genes in blood and brain. Video Abstract, Highlights • SNPs in long-range enhancers alter the transcriptional response of GR target genes • These functional SNPs predict risk for psychiatric but not other medical disorders • These variants are associated with differential neural circuit responses to threat • GR transcripts are strongly co-expressed and regulated in the brain of animal models, Using a stimulated eQTL approach, Arloth et al. show that common genetic variants that alter the initial transcriptome response to stress hormone receptor activation also cumulatively increase the risk for stress-related psychiatric disorders and predict a threat response from the amygdala.

Published
2015

35. Joint Analysis Of Psychiatric Disorders Increases Accuracy Of Risk Prediction For Schizophrenia, Bipolar Disorder, And Major Depressive Disorder

Author

Maier, Robert, Moser, Gerhard, Chen, Guo-Bo, Ripke, Stephan, Coryell, William, Potash, James B., Scheftner, William A., Shi, Jianxin, Weissman, Myrna M., Hultman, Christina M., Landén, Mikael, Levinson, Douglas F., Kendler, Kenneth S., Smoller, Jordan W., Wray, Naomi R., Lee, S. Hong, Absher, Devin, Agartz, Ingrid, Akil, Huda, Amin, Farooq, Andreassen, Ole A., Anjorin, Adebayo, Anney, Richard, Arking, Dan E., Asherson, Philip, Azevedo, Maria H., Backlund, Lena, Badner, Judith A., Bailey, Anthony J., Banaschewski, Tobias, Barchas, Jack D., Barnes, Michael R., Barrett, Thomas B., Bass, Nicholas, Battaglia, Agatino, Bauer, Michael, Bayés, Mònica, Bellivier, Frank, Bergen, Sarah E., Berrettini, Wade, Betancur, Catalina, Bettecken, Thomas, Biederman, Joseph, Binder, Elisabeth B., Black, Donald W., Blackwood, Douglas H.R., Bloss, Cinnamon S., Boehnke, Michael, Boomsma, Dorret I., Breen, Gerome, Breuer, René, Bruggeman, Richard, Buccola, Nancy G., Buitelaar, Jan K., Bunney, William E., Buxbaum, Joseph D., Byerley, William F., Caesar, Sian, Cahn, Wiepke, Cantor, Rita M., Casas, Miguel, Chakravarti, Aravinda, Chambert, Kimberly, Choudhury, Khalid, Cichon, Sven, Cloninger, C. Robert, Collier, David A., Cook, Edwin H., Coon, Hilary, Cormand, Bru, Cormican, Paul, Corvin, Aiden, Coryell, William H., Craddock, Nicholas, Craig, David W., Craig, Ian W, Crosbie, Jennifer, Cuccaro, Michael L., Curtis, David, Czamara, Darina, Daly, Mark J., Datta, Susmita, Dawson, Geraldine, Day, Richard, De Geus, Eco J., Degenhardt, Franziska, Devlin, Bernie, Djurovic, Srdjan, Donohoe, Gary J., Doyle, Alysa E., Duan, Jubao, and Dudbridge, Frank

Published
2015
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36. Novel multiple sclerosis susceptibility loci implicated in epigenetic regulation

Author

Andlauer, Till F. M., primary, Buck, Dorothea, additional, Antony, Gisela, additional, Bayas, Antonios, additional, Bechmann, Lukas, additional, Berthele, Achim, additional, Chan, Andrew, additional, Gasperi, Christiane, additional, Gold, Ralf, additional, Graetz, Christiane, additional, Haas, Jürgen, additional, Hecker, Michael, additional, Infante-Duarte, Carmen, additional, Knop, Matthias, additional, Kümpfel, Tania, additional, Limmroth, Volker, additional, Linker, Ralf A., additional, Loleit, Verena, additional, Luessi, Felix, additional, Meuth, Sven G., additional, Mühlau, Mark, additional, Nischwitz, Sandra, additional, Paul, Friedemann, additional, Pütz, Michael, additional, Ruck, Tobias, additional, Salmen, Anke, additional, Stangel, Martin, additional, Stellmann, Jan-Patrick, additional, Stürner, Klarissa H., additional, Tackenberg, Björn, additional, Then Bergh, Florian, additional, Tumani, Hayrettin, additional, Warnke, Clemens, additional, Weber, Frank, additional, Wiendl, Heinz, additional, Wildemann, Brigitte, additional, Zettl, Uwe K., additional, Ziemann, Ulf, additional, Zipp, Frauke, additional, Arloth, Janine, additional, Weber, Peter, additional, Radivojkov-Blagojevic, Milena, additional, Scheinhardt, Markus O., additional, Dankowski, Theresa, additional, Bettecken, Thomas, additional, Lichtner, Peter, additional, Czamara, Darina, additional, Carrillo-Roa, Tania, additional, Binder, Elisabeth B., additional, Berger, Klaus, additional, Bertram, Lars, additional, Franke, Andre, additional, Gieger, Christian, additional, Herms, Stefan, additional, Homuth, Georg, additional, Ising, Marcus, additional, Jöckel, Karl-Heinz, additional, Kacprowski, Tim, additional, Kloiber, Stefan, additional, Laudes, Matthias, additional, Lieb, Wolfgang, additional, Lill, Christina M., additional, Lucae, Susanne, additional, Meitinger, Thomas, additional, Moebus, Susanne, additional, Müller-Nurasyid, Martina, additional, Nöthen, Markus M., additional, Petersmann, Astrid, additional, Rawal, Rajesh, additional, Schminke, Ulf, additional, Strauch, Konstantin, additional, Völzke, Henry, additional, Waldenberger, Melanie, additional, Wellmann, Jürgen, additional, Porcu, Eleonora, additional, Mulas, Antonella, additional, Pitzalis, Maristella, additional, Sidore, Carlo, additional, Zara, Ilenia, additional, Cucca, Francesco, additional, Zoledziewska, Magdalena, additional, Ziegler, Andreas, additional, Hemmer, Bernhard, additional, and Müller-Myhsok, Bertram, additional

Published
2016
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37. Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error

Author

Cheng, Ching-Yu, Schache, Maria, Ikram, M Kamran, Young, Terri L, Guggenheim, Jeremy A, Vitart, Veronique, MacGregor, Stuart, Verhoeven, Virginie JM, Barathi, Veluchamy A, Liao, Jiemin, Hysi, Pirro G, Bailey-Wilson, Joan E, St Pourcain, Beate, Kemp, John P, McMahon, George, Timpson, Nicholas J, Evans, David M, Montgomery, Grant W, Mishra, Aniket, Wang, Ya Xing, Wang, Jie Jin, Rochtchina, Elena, Polasek, Ozren, Wright, Alan F, Amin, Najaf, van Leeuwen, Elisabeth M, Wilson, James F, Pennell, Craig E, van Duijn, Cornelia M, de Jong, Paulus TVM, Vingerling, Johannes R, Zhou, Xin, Chen, Peng, Li, Ruoying, Tay, Wan-Ting, Zheng, Yingfeng, Chew, Merwyn, Consortium for Refractive Error and Myopia, Burdon, Kathryn P, Craig, Jamie E, Iyengar, Sudha K, Igo, Robert P, Lass, Jonathan H, Fuchs' Genetics Multi-Center Study Group, Chew, Emily Y, Haller, Toomas, Mihailov, Evelin, Metspalu, Andres, Wedenoja, Juho, Simpson, Claire L, Wojciechowski, Robert, Höhn, René, Mirshahi, Alireza, Zeller, Tanja, Pfeiffer, Norbert, Lackner, Karl J, Wellcome Trust Case Control Consortium 2, Bettecken, Thomas, Meitinger, Thomas, Oexle, Konrad, Pirastu, Mario, Portas, Laura, Nag, Abhishek, Williams, Katie M, Yonova-Doing, Ekaterina, Klein, Ronald, Klein, Barbara E, Hosseini, S Mohsen, Paterson, Andrew D, Diabetes Control and Complications Trial/Epidemiology of Diabetes Interventions, and Complications Research Group, Makela, Kari-Matti, Lehtimaki, Terho, Kahonen, Mika, Raitakari, Olli, Yoshimura, Nagahisa, Matsuda, Fumihiko, Chen, Li Jia, Pang, Chi Pui, Yip, Shea Ping, Yap, Maurice KH, Meguro, Akira, Mizuki, Nobuhisa, Inoko, Hidetoshi, Foster, Paul J, Zhao, Jing Hua, Vithana, Eranga, Tai, E-Shyong, Fan, Qiao, Xu, Liang, Campbell, Harry, Fleck, Brian, Rudan, Igor, Aung, Tin, Hofman, Albert, Uitterlinden, André G, Bencic, Goran, Khor, Chiea-Chuen, Forward, Hannah, Pärssinen, Olavi, and Mitchell, Paul

Subjects
Adult, Male, Adolescent, Gene Expression, Eye, Medical and Health Sciences, White People, Asian People, Clinical Research, Genetics, Humans, 2.1 Biological and endogenous factors, Genetic Predisposition to Disease, Axial Length, Polymorphism, Aetiology, Eye Proteins, Eye Disease and Disorders of Vision, Aged, Genetics & Heredity, Consortium for Refractive Error and Myopia, Wellcome Trust Case Control Consortium 2, Human Genome, Single Nucleotide, Middle Aged, Biological Sciences, and Complications Research Group, Refractive Errors, Fuchs' Genetics Multi-Center Study Group, Genetic Loci, Female, Diabetes Control and Complications Trial/Epidemiology of Diabetes Interventions, Signal Transduction, Genome-Wide Association Study
Abstract

Refractive errors are common eye disorders of public health importance worldwide. Ocular axial length (AL) is the major determinant of refraction and thus of myopia and hyperopia. We conducted a meta-analysis of genome-wide association studies for AL, combining 12,531 Europeans and 8,216 Asians. We identified eight genome-wide significant loci for AL (RSPO1, C3orf26, LAMA2, GJD2, ZNRF3, CD55, MIP, and ALPPL2) and confirmed one previously reported AL locus (ZC3H11B). Of the nine loci, five (LAMA2, GJD2, CD55, ALPPL2, and ZC3H11B) were associated with refraction in 18 independent cohorts (n = 23,591). Differential gene expression was observed for these loci in minus-lens-induced myopia mouse experiments and human ocular tissues. Two of the AL genes, RSPO1 and ZNRF3, are involved in Wnt signaling, a pathway playing a major role in the regulation of eyeball size. This study provides evidence of shared genes between AL and refraction, but importantly also suggests that these traits may have unique pathways.

Published
2013

39. Human nucleosomes: special role of CG dinucleotides and Alu-nucleosomes

Author

Trifonov Edward N, Frenkel Zakharia M, and Bettecken Thomas

Subjects
lcsh:QH426-470, lcsh:Biotechnology, Computational Biology, Sequence Analysis, DNA, Chromatin Assembly and Disassembly, Nucleosomes, lcsh:Genetics, Alu Elements, lcsh:TP248.13-248.65, Genetics, Humans, Dinucleoside Phosphates, Biotechnology, Research Article
Abstract

Background The periodical occurrence of dinucleotides with a period of 10.4 bases now is undeniably a hallmark of nucleosome positioning. Whereas many eukaryotic genomes contain visible and even strong signals for periodic distribution of dinucleotides, the human genome is rather featureless in this respect. The exact sequence features in the human genome that govern the nucleosome positioning remain largely unknown. Results When analyzing the human genome sequence with the positional autocorrelation method, we found that only the dinucleotide CG shows the 10.4 base periodicity, which is indicative of the presence of nucleosomes. There is a high occurrence of CG dinucleotides that are either 31 (10.4 × 3) or 62 (10.4 × 6) base pairs apart from one another - a sequence bias known to be characteristic of Alu-sequences. In a similar analysis with repetitive sequences removed, peaks of repeating CG motifs can be seen at positions 10, 21 and 31, the nearest integers of multiples of 10.4. Conclusions Although the CG dinucleotides are dominant, other elements of the standard nucleosome positioning pattern are present in the human genome as well. The positional autocorrelation analysis of the human genome demonstrates that the CG dinucleotide is, indeed, one visible element of the human nucleosome positioning pattern, which appears both in Alu sequences and in sequences without repeats. The dominant role that CG dinucleotides play in organizing human chromatin is to indicate the involvement of human nucleosomes in tuning the regulation of gene expression and chromatin structure, which is very likely due to cytosine-methylation/-demethylation in CG dinucleotides contained in the human nucleosomes. This is further confirmed by the positions of CG-periodical nucleosomes on Alu sequences. Alu repeats appear as monomers, dimers and trimers, harboring two to six nucleosomes in a run. Considering the exceptional role CG dinucleotides play in the nucleosome positioning, we hypothesize that Alu-nucleosomes, especially, those that form tightly positioned runs, could serve as "anchors" in organizing the chromatin in human cells.

Published
2010

40. Connecting Anxiety and Genomic Copy Number Variation: A Genome-Wide Analysis in CD-1 Mice

Author

Brenndörfer, Julia, primary, Altmann, André, additional, Widner-Andrä, Regina, additional, Pütz, Benno, additional, Czamara, Darina, additional, Tilch, Erik, additional, Kam-Thong, Tony, additional, Weber, Peter, additional, Rex-Haffner, Monika, additional, Bettecken, Thomas, additional, Bultmann, Andrea, additional, Müller-Myhsok, Bertram, additional, Binder, Elisabeth E., additional, Landgraf, Rainer, additional, and Czibere, Ludwig, additional

Published
2015
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41. Joint Analysis of Psychiatric Disorders Increases Accuracy of Risk Prediction for Schizophrenia, Bipolar Disorder, and Major Depressive Disorder

Author

Maier, Robert, primary, Moser, Gerhard, additional, Chen, Guo-Bo, additional, Ripke, Stephan, additional, Coryell, William, additional, Potash, James B., additional, Scheftner, William A., additional, Shi, Jianxin, additional, Weissman, Myrna M., additional, Hultman, Christina M., additional, Landén, Mikael, additional, Levinson, Douglas F., additional, Kendler, Kenneth S., additional, Smoller, Jordan W., additional, Wray, Naomi R., additional, Lee, S. Hong, additional, Absher, Devin, additional, Agartz, Ingrid, additional, Akil, Huda, additional, Amin, Farooq, additional, Andreassen, Ole A., additional, Anjorin, Adebayo, additional, Anney, Richard, additional, Arking, Dan E., additional, Asherson, Philip, additional, Azevedo, Maria H., additional, Backlund, Lena, additional, Badner, Judith A., additional, Bailey, Anthony J., additional, Banaschewski, Tobias, additional, Barchas, Jack D., additional, Barnes, Michael R., additional, Barrett, Thomas B., additional, Bass, Nicholas, additional, Battaglia, Agatino, additional, Bauer, Michael, additional, Bayés, Mònica, additional, Bellivier, Frank, additional, Bergen, Sarah E., additional, Berrettini, Wade, additional, Betancur, Catalina, additional, Bettecken, Thomas, additional, Biederman, Joseph, additional, Binder, Elisabeth B., additional, Black, Donald W., additional, Blackwood, Douglas H.R., additional, Bloss, Cinnamon S., additional, Boehnke, Michael, additional, Boomsma, Dorret I., additional, Breen, Gerome, additional, Breuer, René, additional, Bruggeman, Richard, additional, Buccola, Nancy G., additional, Buitelaar, Jan K., additional, Bunney, William E., additional, Buxbaum, Joseph D., additional, Byerley, William F., additional, Caesar, Sian, additional, Cahn, Wiepke, additional, Cantor, Rita M., additional, Casas, Miguel, additional, Chakravarti, Aravinda, additional, Chambert, Kimberly, additional, Choudhury, Khalid, additional, Cichon, Sven, additional, Cloninger, C. Robert, additional, Collier, David A., additional, Cook, Edwin H., additional, Coon, Hilary, additional, Cormand, Bru, additional, Cormican, Paul, additional, Corvin, Aiden, additional, Coryell, William H., additional, Craddock, Nicholas, additional, Craig, David W., additional, Craig, Ian W., additional, Crosbie, Jennifer, additional, Cuccaro, Michael L., additional, Curtis, David, additional, Czamara, Darina, additional, Daly, Mark J., additional, Datta, Susmita, additional, Dawson, Geraldine, additional, Day, Richard, additional, De Geus, Eco J., additional, Degenhardt, Franziska, additional, Devlin, Bernie, additional, Djurovic, Srdjan, additional, Donohoe, Gary J., additional, Doyle, Alysa E., additional, Duan, Jubao, additional, Dudbridge, Frank, additional, Duketis, Eftichia, additional, Ebstein, Richard P., additional, Edenberg, Howard J., additional, Elia, Josephine, additional, Ennis, Sean, additional, Etain, Bruno, additional, Fanous, Ayman, additional, Faraone, Stephen V., additional, Farmer, Anne E., additional, Ferrier, I. Nicol, additional, Flickinger, Matthew, additional, Fombonne, Eric, additional, Foroud, Tatiana, additional, Frank, Josef, additional, Franke, Barbara, additional, Fraser, Christine, additional, Freedman, Robert, additional, Freimer, Nelson B., additional, Freitag, Christine M., additional, Friedl, Marion, additional, Frisén, Louise, additional, Gallagher, Louise, additional, Gejman, Pablo V., additional, Georgieva, Lyudmila, additional, Gershon, Elliot S., additional, Geschwind, Daniel H., additional, Giegling, Ina, additional, Gill, Michael, additional, Gordon, Scott D., additional, Gordon-Smith, Katherine, additional, Green, Elaine K., additional, Greenwood, Tiffany A., additional, Grice, Dorothy E., additional, Gross, Magdalena, additional, Grozeva, Detelina, additional, Guan, Weihua, additional, Gurling, Hugh, additional, De Haan, Lieuwe, additional, Haines, Jonathan L., additional, Hakonarson, Hakon, additional, Hallmayer, Joachim, additional, Hamilton, Steven P., additional, Hamshere, Marian L., additional, Hansen, Thomas F., additional, Hartmann, Annette M., additional, Hautzinger, Martin, additional, Heath, Andrew C., additional, Henders, Anjali K., additional, Herms, Stefan, additional, Hickie, Ian B., additional, Hipolito, Maria, additional, Hoefels, Susanne, additional, Holmans, Peter A., additional, Holsboer, Florian, additional, Hoogendijk, Witte J., additional, Hottenga, Jouke-Jan, additional, Hultman, Christina M., additional, Hus, Vanessa, additional, Ingason, Andrés, additional, Ising, Marcus, additional, Jamain, Stéphane, additional, Jones, Ian, additional, Jones, Lisa, additional, Kähler, Anna K., additional, Kahn, René S., additional, Kandaswamy, Radhika, additional, Keller, Matthew C., additional, Kelsoe, John R., additional, Kendler, Kenneth S., additional, Kennedy, James L., additional, Kenny, Elaine, additional, Kent, Lindsey, additional, Kim, Yunjung, additional, Kirov, George K., additional, Klauck, Sabine M., additional, Klei, Lambertus, additional, Knowles, James A., additional, Kohli, Martin A., additional, Koller, Daniel L., additional, Konte, Bettina, additional, Korszun, Ania, additional, Krabbendam, Lydia, additional, Krasucki, Robert, additional, Kuntsi, Jonna, additional, Kwan, Phoenix, additional, Långström, Niklas, additional, Lathrop, Mark, additional, Lawrence, Jacob, additional, Lawson, William B., additional, Leboyer, Marion, additional, Ledbetter, David H., additional, Lee, Phil H., additional, Lencz, Todd, additional, Lesch, Klaus-Peter, additional, Levinson, Douglas F., additional, Lewis, Cathryn M., additional, Li, Jun, additional, Lichtenstein, Paul, additional, Lieberman, Jeffrey A., additional, Lin, Dan-Yu, additional, Linszen, Don H., additional, Liu, Chunyu, additional, Lohoff, Falk W., additional, Loo, Sandra K., additional, Lord, Catherine, additional, Lowe, Jennifer K., additional, Lucae, Susanne, additional, MacIntyre, Donald J., additional, Madden, Pamela A.F., additional, Maestrini, Elena, additional, Magnusson, Patrik K.E., additional, Mahon, Pamela B., additional, Maier, Wolfgang, additional, Malhotra, Anil K., additional, Mane, Shrikant M., additional, Martin, Christa L., additional, Martin, Nicholas G., additional, Mattheisen, Manuel, additional, Matthews, Keith, additional, Mattingsdal, Morten, additional, McCarroll, Steven A., additional, McGhee, Kevin A., additional, McGough, James J., additional, McGrath, Patrick J., additional, McGuffin, Peter, additional, McInnis, Melvin G., additional, McIntosh, Andrew, additional, McKinney, Rebecca, additional, McLean, Alan W., additional, McMahon, Francis J., additional, McMahon, William M., additional, McQuillin, Andrew, additional, Medeiros, Helena, additional, Medland, Sarah E., additional, Meier, Sandra, additional, Melle, Ingrid, additional, Meng, Fan, additional, Meyer, Jobst, additional, Middeldorp, Christel M., additional, Middleton, Lefkos, additional, Milanova, Vihra, additional, Miranda, Ana, additional, Monaco, Anthony P., additional, Montgomery, Grant W., additional, Moran, Jennifer L., additional, Moreno-De-Luca, Daniel, additional, Morken, Gunnar, additional, Morris, Derek W., additional, Morrow, Eric M., additional, Moskvina, Valentina, additional, Mowry, Bryan J., additional, Muglia, Pierandrea, additional, Mühleisen, Thomas W., additional, Müller-Myhsok, Bertram, additional, Murtha, Michael, additional, Myers, Richard M., additional, Myin-Germeys, Inez, additional, Neale, Benjamin M., additional, Nelson, Stan F., additional, Nievergelt, Caroline M., additional, Nikolov, Ivan, additional, Nimgaonkar, Vishwajit, additional, Nolen, Willem A., additional, Nöthen, Markus M., additional, Nurnberger, John I., additional, Nwulia, Evaristus A., additional, Nyholt, Dale R., additional, O’Donovan, Michael C., additional, O’Dushlaine, Colm, additional, Oades, Robert D., additional, Olincy, Ann, additional, Oliveira, Guiomar, additional, Olsen, Line, additional, Ophoff, Roel A., additional, Osby, Urban, additional, Owen, Michael J., additional, Palotie, Aarno, additional, Parr, Jeremy R., additional, Paterson, Andrew D., additional, Pato, Carlos N., additional, Pato, Michele T., additional, Penninx, Brenda W., additional, Pergadia, Michele L., additional, Pericak-Vance, Margaret A., additional, Perlis, Roy H., additional, Pickard, Benjamin S., additional, Pimm, Jonathan, additional, Piven, Joseph, additional, Posthuma, Danielle, additional, Potash, James B., additional, Poustka, Fritz, additional, Propping, Peter, additional, Purcell, Shaun M., additional, Puri, Vinay, additional, Quested, Digby J., additional, Quinn, Emma M., additional, Ramos-Quiroga, Josep Antoni, additional, Rasmussen, Henrik B., additional, Raychaudhuri, Soumya, additional, Rehnström, Karola, additional, Reif, Andreas, additional, Ribasés, Marta, additional, Rice, John P., additional, Rietschel, Marcella, additional, Roeder, Kathryn, additional, Roeyers, Herbert, additional, Rossin, Lizzy, additional, Rothenberger, Aribert, additional, Rouleau, Guy, additional, Ruderfer, Douglas, additional, Rujescu, Dan, additional, Sanders, Alan R., additional, Sanders, Stephan J., additional, Santangelo, Susan L., additional, Schachar, Russell, additional, Schalling, Martin, additional, Schatzberg, Alan F., additional, Scheftner, William A., additional, Schellenberg, Gerard D., additional, Scherer, Stephen W., additional, Schork, Nicholas J., additional, Schulze, Thomas G., additional, Schumacher, Johannes, additional, Schwarz, Markus, additional, Scolnick, Edward, additional, Scott, Laura J., additional, Sergeant, Joseph A., additional, Shilling, Paul D., additional, Shyn, Stanley I., additional, Silverman, Jeremy M., additional, Sklar, Pamela, additional, Slager, Susan L., additional, Smalley, Susan L., additional, Smit, Johannes H., additional, Smith, Erin N., additional, Smoller, Jordan W., additional, Sonuga-Barke, Edmund J.S., additional, St Clair, David, additional, State, Matthew, additional, Steffens, Michael, additional, Steinhausen, Hans-Christoph, additional, Strauss, John S., additional, Strohmaier, Jana, additional, Stroup, T. Scott, additional, Sullivan, Patrick F., additional, Sutcliffe, James, additional, Szatmari, Peter, additional, Szelinger, Szabocls, additional, Thapar, Anita, additional, Thirumalai, Srinivasa, additional, Thompson, Robert C., additional, Todorov, Alexandre A., additional, Tozzi, Federica, additional, Treutlein, Jens, additional, Tzeng, Jung-Ying, additional, Uhr, Manfred, additional, van den Oord, Edwin J.C.G., additional, Van Grootheest, Gerard, additional, Van Os, Jim, additional, Vicente, Astrid M., additional, Vieland, Veronica J., additional, Vincent, John B., additional, Visscher, Peter M., additional, Walsh, Christopher A., additional, Wassink, Thomas H., additional, Watson, Stanley J., additional, Weiss, Lauren A., additional, Weissman, Myrna M., additional, Werge, Thomas, additional, Wienker, Thomas F., additional, Wiersma, Durk, additional, Wijsman, Ellen M., additional, Willemsen, Gonneke, additional, Williams, Nigel, additional, Willsey, A. Jeremy, additional, Witt, Stephanie H., additional, Wray, Naomi R., additional, Xu, Wei, additional, Young, Allan H., additional, Yu, Timothy W., additional, Zammit, Stanley, additional, Zandi, Peter P., additional, Zhang, Peng, additional, Zitman, Frans G., additional, and Zöllner, Sebastian, additional

Published
2015
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42. A hypomorphic vasopressin allele prevents anxiety-related behavior

Author

Bunck, Mirjam, Czibere, Ludwig, Horvath, Charlotte, Graf, Cornelia, Frank, Elisabeth T, Kebler, Melanie S, Murgatroyd, Chris, Muller-Myhsok, Bertram, Gonik, Mariya, Weber, Peter, Putz, Benno, Muigg, Patrik, Panhuysen, Markus, Singewald, Nicolas, Bettecken, Thomas, Deussing, Jan M., Holsboer, Florian, Spengler, Dietmar, Landgraf, Rainer, Bunck, Mirjam, Czibere, Ludwig, Horvath, Charlotte, Graf, Cornelia, Frank, Elisabeth T, Kebler, Melanie S, Murgatroyd, Chris, Muller-Myhsok, Bertram, Gonik, Mariya, Weber, Peter, Putz, Benno, Muigg, Patrik, Panhuysen, Markus, Singewald, Nicolas, Bettecken, Thomas, Deussing, Jan M., Holsboer, Florian, Spengler, Dietmar, and Landgraf, Rainer

Abstract

In this study, microarray analysis, in situ hybridization, quantitative real-time PCR and immunohistochemistry revealed decreased expression of the vasopressin gene (Avp) in the hypothalamic paraventricular (PVN) and supraoptic (SON) nuclei of adult LAB mice compared to HAB, NAB (normal anxiety-related behavior) and HABxLAB F1 intercross controls, without detecting differences in receptor expression or density. By sequencing the regions 2.5 kbp up- and downstream of the Avp gene locus, we could identify several polymorphic loci, differing between the HAB and LAB lines. In the gene promoter, a deletion of twelve bp Δ(−2180–2191) is particularly likely to contribute to the reduced Avp expression detected in LAB animals under basal conditions. Indeed, allele-specific transcription analysis of F1 animals revealed a hypomorphic LAB-specific Avp allele with a reduced transcription rate by 75% compared to the HAB-specific allele, thus explaining line-specific Avp expression profiles and phenotypic features. Accordingly, intra-PVN Avp mRNA levels were found to correlate with anxiety-related and depression-like behaviors. In addition to this correlative evidence, a significant, though moderate, genotype/phenotype association was demonstrated in 258 male mice of a freely-segregating F2 panel, suggesting a causal contribution of the Avp promoter deletion to anxiety-related behavior.

Published
2009

43. Nine Loci for Ocular Axial Length Identified through Genome-wide Association Studies, Including Shared Loci with Refractive Error

Author

Cheng, Ching-Yu, primary, Schache, Maria, additional, Ikram, M. Kamran, additional, Young, Terri L., additional, Guggenheim, Jeremy A., additional, Vitart, Veronique, additional, MacGregor, Stuart, additional, Verhoeven, Virginie J.M., additional, Barathi, Veluchamy A., additional, Liao, Jiemin, additional, Hysi, Pirro G., additional, Bailey-Wilson, Joan E., additional, St. Pourcain, Beate, additional, Kemp, John P., additional, McMahon, George, additional, Timpson, Nicholas J., additional, Evans, David M., additional, Montgomery, Grant W., additional, Mishra, Aniket, additional, Wang, Ya Xing, additional, Wang, Jie Jin, additional, Rochtchina, Elena, additional, Polasek, Ozren, additional, Wright, Alan F., additional, Amin, Najaf, additional, van Leeuwen, Elisabeth M., additional, Wilson, James F., additional, Pennell, Craig E., additional, van Duijn, Cornelia M., additional, de Jong, Paulus T.V.M., additional, Vingerling, Johannes R., additional, Zhou, Xin, additional, Chen, Peng, additional, Li, Ruoying, additional, Tay, Wan-Ting, additional, Zheng, Yingfeng, additional, Chew, Merwyn, additional, Burdon, Kathryn P., additional, Craig, Jamie E., additional, Iyengar, Sudha K., additional, Igo, Robert P., additional, Lass, Jonathan H., additional, Chew, Emily Y., additional, Haller, Toomas, additional, Mihailov, Evelin, additional, Metspalu, Andres, additional, Wedenoja, Juho, additional, Simpson, Claire L., additional, Wojciechowski, Robert, additional, Höhn, René, additional, Mirshahi, Alireza, additional, Zeller, Tanja, additional, Pfeiffer, Norbert, additional, Lackner, Karl J., additional, Bettecken, Thomas, additional, Meitinger, Thomas, additional, Oexle, Konrad, additional, Pirastu, Mario, additional, Portas, Laura, additional, Nag, Abhishek, additional, Williams, Katie M., additional, Yonova-Doing, Ekaterina, additional, Klein, Ronald, additional, Klein, Barbara E., additional, Hosseini, S. Mohsen, additional, Paterson, Andrew D., additional, Makela, Kari-Matti, additional, Lehtimaki, Terho, additional, Kahonen, Mika, additional, Raitakari, Olli, additional, Yoshimura, Nagahisa, additional, Matsuda, Fumihiko, additional, Chen, Li Jia, additional, Pang, Chi Pui, additional, Yip, Shea Ping, additional, Yap, Maurice K.H., additional, Meguro, Akira, additional, Mizuki, Nobuhisa, additional, Inoko, Hidetoshi, additional, Foster, Paul J., additional, Zhao, Jing Hua, additional, Vithana, Eranga, additional, Tai, E-Shyong, additional, Fan, Qiao, additional, Xu, Liang, additional, Campbell, Harry, additional, Fleck, Brian, additional, Rudan, Igor, additional, Aung, Tin, additional, Hofman, Albert, additional, Uitterlinden, André G., additional, Bencic, Goran, additional, Khor, Chiea-Chuen, additional, Forward, Hannah, additional, Pärssinen, Olavi, additional, Mitchell, Paul, additional, Rivadeneira, Fernando, additional, Hewitt, Alex W., additional, Williams, Cathy, additional, Oostra, Ben A., additional, Teo, Yik-Ying, additional, Hammond, Christopher J., additional, Stambolian, Dwight, additional, Mackey, David A., additional, Klaver, Caroline C.W., additional, Wong, Tien-Yin, additional, Saw, Seang-Mei, additional, Baird, Paul N., additional, Reinhart, William, additional, Belin, Michael W., additional, Schultze, Robert L., additional, Morason, Todd, additional, Sugar, Alan, additional, Mian, Shahzad, additional, Soong, Hunson Kaz, additional, Colby, Kathryn, additional, Jurkunas, Ula, additional, Yee, Richard, additional, Vital, Mark, additional, Alfonso, Eduardo, additional, Karp, Carol, additional, Lee, Yunhee, additional, Yoo, Sonia, additional, Hammersmith, Kristin, additional, Cohen, Elisabeth, additional, Laibson, Peter, additional, Rapuano, Christopher, additional, Ayres, Brandon, additional, Croasdale, Christopher, additional, Caudill, James, additional, Patel, Sanjay, additional, Baratz, Keith, additional, Bourne, William, additional, Maguire, Leo, additional, Sugar, Joel, additional, Tu, Elmer, additional, Djalilian, Ali, additional, Mootha, Vinod, additional, McCulley, James, additional, Bowman, Wayne, additional, Cavanaugh, H. Dwight, additional, Verity, Steven, additional, Verdier, David, additional, Renucci, Ann, additional, Oliva, Matt, additional, Rotkis, Walter, additional, Hardten, David R., additional, Fahmy, Ahmad, additional, Brown, Marlene, additional, Reeves, Sherman, additional, Davis, Elizabeth A., additional, Lindstrom, Richard, additional, Hauswirth, Scott, additional, Hamilton, Stephen, additional, Lee, W. Barry, additional, Price, Francis, additional, Price, Marianne, additional, Kelly, Kathleen, additional, Peters, Faye, additional, Shaughnessy, Michael, additional, Steinemann, Thomas, additional, Dupps, B.J., additional, Meisler, David M., additional, Mifflin, Mark, additional, Olson, Randal, additional, Aldave, Anthony, additional, Holland, Gary, additional, Mondino, Bartly J., additional, Rosenwasser, George, additional, Gorovoy, Mark, additional, Dunn, Steven P., additional, Heidemann, David G., additional, Terry, Mark, additional, Shamie, Neda, additional, Rosenfeld, Steven I., additional, Suedekum, Brandon, additional, Hwang, David, additional, Stone, Donald, additional, Chodosh, James, additional, Galentine, Paul G., additional, Bardenstein, David, additional, Goddard, Katrina, additional, Chin, Hemin, additional, Mannis, Mark, additional, Varma, Rohit, additional, and Borecki, Ingrid, additional

Published
2013
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44. Successful Replication of GWAS Hits for Multiple Sclerosis in 10,000 Germans Using the Exome Array.

Author

Dankowski, Theresa, Buck, Dorothea, Andlauer, Till F. M., Antony, Gisela, Bayas, Antonios, Bechmann, Lukas, Berthele, Achim, Bettecken, Thomas, Chan, Andrew, Franke, Andre, Gold, Ralf, Graetz, Christiane, Haas, Jürgen, Hecker, Michael, Herms, Stefan, Infante‐Duarte, Carmen, Jöckel, Karl‐Heinz, Kieseier, Bernd C., Knier, Benjamin, and Knop, Matthias

Published
2015
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49. The Neuronal Transporter Gene SLC6A15 Confers Risk to Major Depression

Author

Kohli, Martin A., primary, Lucae, Susanne, additional, Saemann, Philipp G., additional, Schmidt, Mathias V., additional, Demirkan, Ayse, additional, Hek, Karin, additional, Czamara, Darina, additional, Alexander, Michael, additional, Salyakina, Daria, additional, Ripke, Stephan, additional, Hoehn, David, additional, Specht, Michael, additional, Menke, Andreas, additional, Hennings, Johannes, additional, Heck, Angela, additional, Wolf, Christiane, additional, Ising, Marcus, additional, Schreiber, Stefan, additional, Czisch, Michael, additional, Müller, Marianne B., additional, Uhr, Manfred, additional, Bettecken, Thomas, additional, Becker, Albert, additional, Schramm, Johannes, additional, Rietschel, Marcella, additional, Maier, Wolfgang, additional, Bradley, Bekh, additional, Ressler, Kerry J., additional, Nöthen, Markus M., additional, Cichon, Sven, additional, Craig, Ian W., additional, Breen, Gerome, additional, Lewis, Cathryn M., additional, Hofman, Albert, additional, Tiemeier, Henning, additional, van Duijn, Cornelia M., additional, Holsboer, Florian, additional, Müller-Myhsok, Bertram, additional, and Binder, Elisabeth B., additional

Published
2011
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50. SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtype

Author

Stoepker, Chantal, primary, Hain, Karolina, additional, Schuster, Beatrice, additional, Hilhorst-Hofstee, Yvonne, additional, Rooimans, Martin A, additional, Steltenpool, Jurgen, additional, Oostra, Anneke B, additional, Eirich, Katharina, additional, Korthof, Elisabeth T, additional, Nieuwint, Aggie W M, additional, Jaspers, Nicolaas G J, additional, Bettecken, Thomas, additional, Joenje, Hans, additional, Schindler, Detlev, additional, Rouse, John, additional, and de Winter, Johan P, additional

Published
2011
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