Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy.
作者： Kazuki Ichikawa , Hideaki Yurino , Koichiro Higasa , Shota Shibata , Aki Mitsue
DOI: 10.1038/S41588-018-0067-2
关键词: Sequence analysis 、 Gene 、 Intron 、 DNA Repeat Expansion 、 Benign adult familial myoclonic epilepsy 、 Genetics 、 Trinucleotide repeat expansion 、 genomic DNA 、 Epilepsy 、 Biology
摘要: Epilepsy is a common neurological disorder, and mutations in genes encoding ion channels or neurotransmitter receptors are frequent causes of monogenic forms epilepsy. Here we show that abnormal expansions TTTCA TTTTA repeats intron 4 SAMD12 cause benign adult familial myoclonic epilepsy (BAFME). Single-molecule, real-time sequencing BAC clones nanopore genomic DNA identified two repeat configurations SAMD12. Intriguingly, families with clinical diagnosis BAFME which no were observed, similar introns TNRC6A RAPGEF2, indicating the same motifs involved pathogenesis regardless expanded located. This discovery noncoding lead to neuronal dysfunction responsible for tremor extends understanding diseases such expansion.
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Takefumi Hitomi, Takayuki Kondo, Katsuya Kobayashi, Riki Matsumoto, Ryosuke Takahashi, Akio Ikeda, Clinical anticipation in Japanese families of benign adult familial myoclonus epilepsy Epilepsia. ,vol. 53, ,(2012) , 10.1111/J.1528-1167.2011.03349.X
Kunihiro Yoshida, Mika Asakawa, Emi Suzuki‐Kouyama, Kenichi Tabata, Masayuki Shintaku, Shu‐ichi Ikeda, Kiyomitsu Oyanagi, Distinctive features of degenerating
P
urkinje cells in spinocerebellar ataxia type 31 Neuropathology. ,vol. 34, pp. 261- 267 ,(2014) , 10.1111/NEUP.12090
Takefumi Hitomi, Katsuya Kobayashi, Naoto Jingami, Tomokazu Nakagawa, Hisaji Imamura, Riki Matsumoto, Takayuki Kondo, Kazuo Chin, Ryosuke Takahashi, Akio Ikeda, Increased clinical anticipation with maternal transmission in benign adult familial myoclonus epilepsy in Japan. Epileptic Disorders. ,vol. 15, pp. 428- 432 ,(2013) , 10.1684/EPD.2013.0608
John F Regan, Nolan Kamitaki, Tina Legler, Samantha Cooper, Niels Klitgord, George Karlin-Neumann, Catherine Wong, Shawn Hodges, Ryan Koehler, Svilen Tzonev, Steven A McCarroll, None, A Rapid Molecular Approach for Chromosomal Phasing PLOS ONE. ,vol. 10, pp. e0118270- ,(2015) , 10.1371/JOURNAL.PONE.0118270
Adam Ameur, Ammar Zaghlool, Jonatan Halvardson, Anna Wetterbom, Ulf Gyllensten, Lucia Cavelier, Lars Feuk, Total RNA sequencing reveals nascent transcription and widespread co-transcriptional splicing in the human brain Nature Structural & Molecular Biology. ,vol. 18, pp. 1435- 1440 ,(2011) , 10.1038/NSMB.2143
Yoko Fukuda, Yasuo Nakahara, Hidetoshi Date, Yuji Takahashi, Jun Goto, Akinori Miyashita, Ryozo Kuwano, Hiroki Adachi, Eiji Nakamura, Shoji Tsuji, SNP HiTLink: a high-throughput linkage analysis system employing dense SNP data BMC Bioinformatics. ,vol. 10, pp. 121- 121 ,(2009) , 10.1186/1471-2105-10-121
Patra Yeetong, Surasawadee Ausavarat, Roongroj Bhidayasiri, Krisna Piravej, Nath Pasutharnchat, Tayard Desudchit, Chaipat Chunharas, Jakrin Loplumlert, Chusak Limotai, Kanya Suphapeetiporn, Vorasuk Shotelersuk, A newly identified locus for benign adult familial myoclonic epilepsy on chromosome 3q26.32-3q28 European Journal of Human Genetics. ,vol. 21, pp. 225- 228 ,(2013) , 10.1038/EJHG.2012.133
C. Depienne, E. Magnin, D. Bouteiller, G. Stevanin, C. Saint-Martin, M. Vidailhet, E. Apartis, E. Hirsch, E. LeGuern, P. Labauge, L. Rumbach, Familial cortical myoclonic tremor with epilepsy: The third locus (FCMTE3) maps to 5p Neurology. ,vol. 74, pp. 2000- 2003 ,(2010) , 10.1212/WNL.0B013E3181E396A8
Daniel F Gudbjartsson, Thorvaldur Thorvaldsson, Augustine Kong, Gunnar Gunnarsson, Anna Ingolfsdottir, Allegro version 2. Nature Genetics. ,vol. 37, pp. 1015- 1016 ,(2005) , 10.1038/NG1005-1015
Santosh S. Arcot, Zhenyuan Wang, James L. Weber, Prescott L. Deininger, Mark A. Batzer, Alu repeats: a source for the genesis of primate microsatellites. Genomics. ,vol. 29, pp. 136- 144 ,(1995) , 10.1006/GENO.1995.1224