Nicht-kodierende Mutationen
作者： Malte Spielmann , Stefan Mundlos
DOI: 10.1007/S11825-014-0033-Z
关键词:
摘要: Trotz der enormen Fortschritte genomweiter Analyseverfahren bleiben uber 40 % Patienten in Humangenetik ohne molekulare Diagnose. Dies konnte unter anderem an Tatsache liegen, dass Varianten im nicht-kodierenden Teil des Genoms bisher auser Acht gelassen wurden. In den letzten Jahren wurden entscheidende Analyse und Annotierung von cis-regulatorischen Elementen gemacht. Diese Daten konnen nun gezielt genutzt werden, um regulatorische Mutationen zu identifizieren bewerten. Zudem gezeigt das menschliche Genom Domanen eingeteilt ist, die Chromatinstrukturen eine dreidimensionale regulatorisch aktive Architektur einnehmen. oder strukturelle Aberrationen diese Struktur verandern damit zum Funktionsverlust zur Fehlexpression benachbarten Genen fuhren. All Erkenntnisse Interpretation eingesetzt werden.
springer.com
sci-hub.se 参考文章(28)
Elphège P. Nora, Job Dekker, Edith Heard, Segmental folding of chromosomes: A basis for structural and regulatory chromosomal neighborhoods? BioEssays. ,vol. 35, pp. 818- 828 ,(2013) , 10.1002/BIES.201300040
Malte Spielmann, Stefan Mundlos, Structural variations, the regulatory landscape of the genome and their alteration in human disease BioEssays. ,vol. 35, pp. 533- 543 ,(2013) , 10.1002/BIES.201200178
Vijay G. Sankaran, Tobias F. Menne, Jian Xu, Thomas E. Akie, Guillaume Lettre, Ben Van Handel, Hanna K. A. Mikkola, Joel N. Hirschhorn, Alan B. Cantor, Stuart H. Orkin, Human Fetal Hemoglobin Expression Is Regulated by the Developmental Stage-Specific Repressor BCL11A Science. ,vol. 322, pp. 1839- 1842 ,(2008) , 10.1126/SCIENCE.1165409
Michael N Weedon, , Inês Cebola, Ann-Marie Patch, Sarah E Flanagan, Elisa De Franco, Richard Caswell, Santiago A Rodríguez-Seguí, Charles Shaw-Smith, Candy H-H Cho, Hana Lango Allen, Jayne A L Houghton, Christian L Roth, Rongrong Chen, Khalid Hussain, Phil Marsh, Ludovic Vallier, Anna Murray, Sian Ellard, Jorge Ferrer, Andrew T Hattersley, Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis Nature Genetics. ,vol. 46, pp. 61- 64 ,(2014) , 10.1038/NG.2826
Harmen JG Van De Werken, Gilad Landan, Sjoerd JB Holwerda, Michael Hoichman, Petra Klous, Ran Chachik, Erik Splinter, Christian Valdes-Quezada, Yuva Öz, Britta AM Bouwman, Marjon JAM Verstegen, Elzo De Wit, Amos Tanay, Wouter De Laat, None, Robust 4C-seq data analysis to screen for regulatory DNA interactions Nature Methods. ,vol. 9, pp. 969- 972 ,(2012) , 10.1038/NMETH.2173
Katarina Dathe, Klaus W. Kjaer, Anja Brehm, Peter Meinecke, Peter Nürnberg, Jordao C. Neto, Decio Brunoni, Nils Tommerup, Claus E. Ott, Eva Klopocki, Petra Seemann, Stefan Mundlos, Duplications Involving a Conserved Regulatory Element Downstream of BMP2 Are Associated with Brachydactyly Type A2 American Journal of Human Genetics. ,vol. 84, pp. 483- 492 ,(2009) , 10.1016/J.AJHG.2009.03.001
Christopher D. Buckley, Derek W. Gilroy, Charles N. Serhan, Brigitta Stockinger, Paul P. Tak, The resolution of inflammation Nature Reviews Immunology. ,vol. 13, pp. 59- 66 ,(2013) , 10.1038/NRI3362
Malte Spielmann, Eva Klopocki, CNVs of noncoding cis-regulatory elements in human disease Current Opinion in Genetics & Development. ,vol. 23, pp. 249- 256 ,(2013) , 10.1016/J.GDE.2013.02.013
Malte Spielmann, Francesco Brancati, Peter M. Krawitz, Peter N. Robinson, Daniel M. Ibrahim, Martin Franke, Jochen Hecht, Silke Lohan, Katarina Dathe, Anna Maria Nardone, Paola Ferrari, Antonio Landi, Lars Wittler, Bernd Timmermann, Danny Chan, Ulrich Mennen, Eva Klopocki, Stefan Mundlos, Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus American Journal of Human Genetics. ,vol. 91, pp. 629- 635 ,(2012) , 10.1016/J.AJHG.2012.08.014
Barbara D'haene, Catia Attanasio, Diane Beysen, Josee Dostie, Edmond Lemire, Philippe Bouchard, Michael Field, Kristie Jones, Birgit Lorenz, Björn Menten, Karen Buysse, Filip Pattyn, Marc Friedli, Catherine Ucla, Colette Rossier, Carine Wyss, Frank Speleman, Anne De Paepe, Job Dekker, Stylianos E Antonarakis, Elfride De Baere, None, Disease-Causing 7.4 kb Cis-Regulatory Deletion Disrupting Conserved Non-Coding Sequences and Their Interaction with the FOXL2 Promotor: Implications for Mutation Screening PLoS Genetics. ,vol. 5, pp. e1000522- ,(2009) , 10.1371/JOURNAL.PGEN.1000522