Literature DB >> 28638142

Inter-generational instability of inserted repeats during transmission in spinocerebellar ataxia type 31.

Kunihiro Yoshida1, Akira Matsushima2,3, Katsuya Nakamura2,4.   

Abstract

The causative mutation for spinocerebellar ataxia type 31 (SCA31) is an intronic insertion containing pathogenic pentanucleotide repeats, (TGGAA)n. We examined to what degree the inserted repeats were unstable during transmission. In 14 parent-child pairs, the average change of onset age was -6.4±7.3 years (mean±s.d.) in the child generation when compared with the parent generation. Of the 11 pairs analyzed, six showed expansion of inserted repeat length during transmission, and five showed contraction. On average, the inserted repeats expanded by 12.2±32.7 bp during transmission, but their mean length (with a 95% confidence interval) was not significantly different between parent and child generations. We consider that the length of the inserted repeats in SCA31 is changeable during transmission, but inter-generational instability is not marked, as far as the current sizing method can determine.

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Mesh：

Year:  2017        PMID： 28638142     DOI： 10.1038/jhg.2017.63

Source DB:  PubMed          Journal:  J Hum Genet        ISSN： 1434-5161            Impact factor:   3.172


  16 in total

1.  Pentanucleotide repeats at the spinocerebellar ataxia type 31 (SCA31) locus in Caucasians.

Authors:  K Ishikawa; A Dürr; T Klopstock; S Müller; B De Toffol; M Vidailhet; A Vighetto; C Marelli; H-E Wichmann; T Illig; Y Niimi; N Sato; T Amino; G Stevanin; A Brice; H Mizusawa
Journal:  Neurology       Date:  2011-11-02       Impact factor: 9.910

2.  Characteristic RNA foci of the abnormal hexanucleotide GGCCUG repeat expansion in spinocerebellar ataxia type 36 (Asidan).

Authors:  W Liu; Y Ikeda; N Hishikawa; T Yamashita; K Deguchi; K Abe
Journal:  Eur J Neurol       Date:  2014-07-02       Impact factor: 6.089

3.  An autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 is associated with a single-nucleotide substitution in the 5' untranslated region of the gene encoding a protein with spectrin repeat and Rho guanine-nucleotide exchange-factor domains.

Authors:  Kinya Ishikawa; Shuta Toru; Taiji Tsunemi; Mingshun Li; Kazuhiro Kobayashi; Takanori Yokota; Takeshi Amino; Kiyoshi Owada; Hiroto Fujigasaki; Masaki Sakamoto; Hiroyuki Tomimitsu; Minoru Takashima; Jiro Kumagai; Yoshihiro Noguchi; Yoshiyuki Kawashima; Norio Ohkoshi; Gen Ishida; Manabu Gomyoda; Mari Yoshida; Yoshio Hashizume; Yuko Saito; Shigeo Murayama; Hiroshi Yamanouchi; Toshio Mizutani; Ikuko Kondo; Tatsushi Toda; Hidehiro Mizusawa
Journal:  Am J Hum Genet       Date:  2005-07-06       Impact factor: 11.025

4.  Physical map and haplotype analysis of 16q-linked autosomal dominant cerebellar ataxia (ADCA) type III in Japan.

Authors:  Mingshun Li; Kinya Ishikawa; Shuta Toru; Hiroyuki Tomimitsu; Minoru Takashima; Jun Goto; Yoshihisa Takiyama; Hidenao Sasaki; Issei Imoto; Johji Inazawa; Tatsushi Toda; Ichiro Kanazawa; Hidehiro Mizusawa
Journal:  J Hum Genet       Date:  2003       Impact factor: 3.172

5.  Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement.

Authors:  Hatasu Kobayashi; Koji Abe; Tohru Matsuura; Yoshio Ikeda; Toshiaki Hitomi; Yuji Akechi; Toshiyuki Habu; Wanyang Liu; Hiroko Okuda; Akio Koizumi
Journal:  Am J Hum Genet       Date:  2011-06-16       Impact factor: 11.025

6.  Clinical features of chromosome 16q22.1 linked autosomal dominant cerebellar ataxia in Japanese.

Authors:  Y Onodera; M Aoki; H Mizuno; H Warita; Y Shiga; Y Itoyama
Journal:  Neurology       Date:  2006-10-10       Impact factor: 9.910

7.  Natural History of Spinocerebellar Ataxia Type 31: a 4-Year Prospective Study.

Authors:  Katsuya Nakamura; Kunihiro Yoshida; Akira Matsushima; Yusaku Shimizu; Shunichi Sato; Hiroyuki Yahikozawa; Shinji Ohara; Masanobu Yazawa; Masao Ushiyama; Mitsuto Sato; Hiroshi Morita; Atsushi Inoue; Shu-Ichi Ikeda
Journal:  Cerebellum       Date:  2017-04       Impact factor: 3.847

8.  Clinical and genetic characterizations of 16q-linked autosomal dominant spinocerebellar ataxia (AD-SCA) and frequency analysis of AD-SCA in the Japanese population.

Authors:  Hiroaki Nozaki; Takeshi Ikeuchi; Akio Kawakami; Akio Kimura; Reiji Koide; Miyuki Tsuchiya; Yuusaku Nakmura; Tatsuro Mutoh; Hiroko Yamamoto; Naoki Nakao; Ko Sahashi; Masatoyo Nishizawa; Osamu Onodera
Journal:  Mov Disord       Date:  2007-04-30       Impact factor: 10.338

9.  Severity and progression rate of cerebellar ataxia in 16q-linked autosomal dominant cerebellar ataxia (16q-ADCA) in the endemic Nagano Area of Japan.

Authors:  Kunihiro Yoshida; Yusaku Shimizu; Hiroshi Morita; Tomomi Okano; Haruya Sakai; Takako Ohata; Naomichi Matsumoto; Katsuya Nakamura; Ko-ichi Tazawa; Shinji Ohara; Kenichi Tabata; Atsushi Inoue; Shunichi Sato; Yasuhiro Shimojima; Takeshi Hattori; Masao Ushiyama; Shu-ichi Ikeda
Journal:  Cerebellum       Date:  2009-03       Impact factor: 3.847

10.  Spinocerebellar ataxia type 31 is associated with "inserted" penta-nucleotide repeats containing (TGGAA)n.

Authors:  Nozomu Sato; Takeshi Amino; Kazuhiro Kobayashi; Shuichi Asakawa; Taro Ishiguro; Taiji Tsunemi; Makoto Takahashi; Tohru Matsuura; Kevin M Flanigan; Sawa Iwasaki; Fumitoshi Ishino; Yuko Saito; Shigeo Murayama; Mari Yoshida; Yoshio Hashizume; Yuji Takahashi; Shoji Tsuji; Nobuyoshi Shimizu; Tatsushi Toda; Kinya Ishikawa; Hidehiro Mizusawa
Journal:  Am J Hum Genet       Date:  2009-10-29       Impact factor: 11.025
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  1 in total

Review 1.  Molecular Mechanisms in Pentanucleotide Repeat Diseases.

Authors:  Joana R Loureiro; Ana F Castro; Ana S Figueiredo; Isabel Silveira
Journal:  Cells       Date:  2022-01-08       Impact factor: 6.600
  1 in total

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