Florian, Rahel T., Kraft, Florian
ORCID: 0000-0002-5324-9155, Leitao, Elsa
ORCID: 0000-0001-5051-9714, Kaya, Sabine, Klebe, Stephan, Magnin, Eloi
ORCID: 0000-0003-3036-9266, van Rootselaar, Anne-Fleur
ORCID: 0000-0002-8376-9098, Buratti, Julien
ORCID: 0000-0002-0901-0905, Kuehnel, Theresa, Schroeder, Christopher, Giesselmann, Sebastian, Tschernoster, Nikolai, Altmueller, Janine, lamiral, AnaiDe, Keren, Boris, Nava, Caroline
ORCID: 0000-0003-1272-0518, Bouteiller, Delphine, Forlani, Sylvie, Jornea, Ludmila, Kubica, Regina, Ye, Tao, Plassard, Damien, Jost, Bernard, Meyer, Vincent, Deleuze, Jean-Francois, Delpu, Yannick, Avarello, Mario D. M., Vijfhuizen, Lisanne S., Rudolf, Gabrielle
ORCID: 0000-0002-2050-3911, Hirsch, Edouard, Kroes, Thessa
ORCID: 0000-0003-1416-5407, Reif, Philipp S., Rosenow, Felix, Ganos, Christos
ORCID: 0000-0001-8077-8530, Vidailhet, Marie, Thivard, Lionel, Mathieu, Alexandre, Bourgeron, Thomas, Kurth, Ingo, Rafehi, Haloom, Steenpass, Laura, Horsthemke, Bernhard, Berkovic, Samuel F., Bisulli, Francesca, Brancati, Francesco, Canafoglia, Laura, Casari, Giorgio, Guerrini, Renzo, Ishiura, Hiroyuki, Licchetta, Laura, Mei, Davide, Pippucci, Tommaso, Sadleir, Lynette, Scheffer, Ingrid E., Striano, Pasquale
ORCID: 0000-0002-6065-1476, Tinuper, Paolo, Tsuji, Shoji, Zara, Federico, LeGuern, Eric, Klein, Karl Martin
ORCID: 0000-0002-6654-1665, Labauge, Pierre, Bennett, Mark F., Bahlo, Melanie
ORCID: 0000-0001-5132-0774, Gecz, Jozef
ORCID: 0000-0002-7884-6861, Corbett, Mark A., Tijssen, Marina A. J., van den Maagdenberg, Arn M. J. M. and Depienne, Christel
(2019).
Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3.
Nat. Commun., 10.
LONDON:
NATURE PUBLISHING GROUP.
ISSN 2041-1723
Full text not available from this repository.
Abstract
Familial Adult Myoclonic Epilepsy (FAME) is a genetically heterogeneous disorder characterized by cortical tremor and seizures. Intronic TTTTA/TTTCA repeat expansions in SAMD12 (FAME1) are the main cause of FAME in Asia. Using genome sequencing and repeat-primed PCR, we identify another site of this repeat expansion, in MARCH6 (FAME3) in four European families. Analysis of single DNA molecules with nanopore sequencing and molecular combing show that expansions range from 3.3 to 14 kb on average. However, we observe considerable variability in expansion length and structure, supporting the existence of multiple expansion configurations in blood cells and fibroblasts of the same individual. Moreover, the largest expansions are associated with micro-rearrangements occurring near the expansion in 20% of cells. This study provides further evidence that FAME is caused by intronic TTTTA/TTTCA expansions in distinct genes and reveals that expansions exhibit an unexpectedly high somatic instability that can ultimately result in genomic rearrangements.
Item Type: |
Journal Article
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Creators: |
Creators | Email | ORCID | ORCID Put Code |
---|
Florian, Rahel T. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Kraft, Florian | UNSPECIFIED | orcid.org/0000-0002-5324-9155 | UNSPECIFIED | Leitao, Elsa | UNSPECIFIED | orcid.org/0000-0001-5051-9714 | UNSPECIFIED | Kaya, Sabine | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Klebe, Stephan | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Magnin, Eloi | UNSPECIFIED | orcid.org/0000-0003-3036-9266 | UNSPECIFIED | van Rootselaar, Anne-Fleur | UNSPECIFIED | orcid.org/0000-0002-8376-9098 | UNSPECIFIED | Buratti, Julien | UNSPECIFIED | orcid.org/0000-0002-0901-0905 | UNSPECIFIED | Kuehnel, Theresa | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Schroeder, Christopher | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Giesselmann, Sebastian | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Tschernoster, Nikolai | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Altmueller, Janine | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | lamiral, AnaiDe | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Keren, Boris | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Nava, Caroline | UNSPECIFIED | orcid.org/0000-0003-1272-0518 | UNSPECIFIED | Bouteiller, Delphine | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Forlani, Sylvie | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Jornea, Ludmila | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Kubica, Regina | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Ye, Tao | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Plassard, Damien | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Jost, Bernard | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Meyer, Vincent | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Deleuze, Jean-Francois | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Delpu, Yannick | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Avarello, Mario D. M. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Vijfhuizen, Lisanne S. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Rudolf, Gabrielle | UNSPECIFIED | orcid.org/0000-0002-2050-3911 | UNSPECIFIED | Hirsch, Edouard | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Kroes, Thessa | UNSPECIFIED | orcid.org/0000-0003-1416-5407 | UNSPECIFIED | Reif, Philipp S. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Rosenow, Felix | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Ganos, Christos | UNSPECIFIED | orcid.org/0000-0001-8077-8530 | UNSPECIFIED | Vidailhet, Marie | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Thivard, Lionel | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Mathieu, Alexandre | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Bourgeron, Thomas | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Kurth, Ingo | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Rafehi, Haloom | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Steenpass, Laura | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Horsthemke, Bernhard | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Berkovic, Samuel F. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Bisulli, Francesca | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Brancati, Francesco | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Canafoglia, Laura | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Casari, Giorgio | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Guerrini, Renzo | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Ishiura, Hiroyuki | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Licchetta, Laura | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Mei, Davide | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Pippucci, Tommaso | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Sadleir, Lynette | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Scheffer, Ingrid E. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Striano, Pasquale | UNSPECIFIED | orcid.org/0000-0002-6065-1476 | UNSPECIFIED | Tinuper, Paolo | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Tsuji, Shoji | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Zara, Federico | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | LeGuern, Eric | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Klein, Karl Martin | UNSPECIFIED | orcid.org/0000-0002-6654-1665 | UNSPECIFIED | Labauge, Pierre | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Bennett, Mark F. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Bahlo, Melanie | UNSPECIFIED | orcid.org/0000-0001-5132-0774 | UNSPECIFIED | Gecz, Jozef | UNSPECIFIED | orcid.org/0000-0002-7884-6861 | UNSPECIFIED | Corbett, Mark A. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Tijssen, Marina A. J. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | van den Maagdenberg, Arn M. J. M. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Depienne, Christel | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED |
|
URN: |
urn:nbn:de:hbz:38-130243 |
DOI: |
10.1038/s41467-019-12763-9 |
Journal or Publication Title: |
Nat. Commun. |
Volume: |
10 |
Date: |
2019 |
Publisher: |
NATURE PUBLISHING GROUP |
Place of Publication: |
LONDON |
ISSN: |
2041-1723 |
Language: |
English |
Faculty: |
Unspecified |
Divisions: |
Unspecified |
Subjects: |
no entry |
Uncontrolled Keywords: |
Keywords | Language |
---|
CORTICAL TREMOR; LOCUS; EXCLUSION; REPEATS; LINKAGE; GENOME; SEQ; DNA | Multiple languages | Multidisciplinary Sciences | Multiple languages |
|
Refereed: |
Yes |
URI: |
http://kups.ub.uni-koeln.de/id/eprint/13024 |
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