Literature DB >> 17028313

De novo exon duplication in a new allele of mouse Glra1 (spasmodic).

Katherine D Holland1, Michelle T Fleming, Susannah Cheek, Jennifer L Moran, David R Beier, Miriam H Meisler.   

Abstract

The novel neurological mutant Cincinatti arose by genomic duplication of exon 5 in the glycine receptor gene Glra1. The mutant transcript results in premature protein truncation. A direct repeat of the pentamer GGGGC is present adjacent to the breakpoints and may have mediated the duplication event by a replication slippage mechanism.

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Year:  2006        PMID： 17028313      PMCID： PMC1698620          DOI： 10.1534/genetics.106.065532

Source DB:  PubMed          Journal:  Genetics        ISSN： 0016-6731            Impact factor:   4.562


  12 in total

1.  Origin of alternative splicing by tandem exon duplication.

Authors:  F A Kondrashov; E V Koonin
Journal:  Hum Mol Genet       Date:  2001-11-01       Impact factor: 6.150

2.  Common exon duplication in animals and its role in alternative splicing.

Authors:  Ivica Letunic; Richard R Copley; Peer Bork
Journal:  Hum Mol Genet       Date:  2002-06-15       Impact factor: 6.150

3.  A novel exon duplication event leading to a truncating germ-line mutation of the APC gene in a familial adenomatous polyposis family.

Authors:  Amy McCart; Andrew Latchford; Emmanouil Volikos; Andrew Rowan; Ian Tomlinson; Andrew Silver
Journal:  Fam Cancer       Date:  2006       Impact factor: 2.375

4.  Duplications in the DMD gene.

Authors:  S J White; A Aartsma-Rus; K M Flanigan; R B Weiss; A L J Kneppers; T Lalic; A A M Janson; H B Ginjaar; M H Breuning; J T den Dunnen
Journal:  Hum Mutat       Date:  2006-09       Impact factor: 4.878

Review 5.  Startle syndromes.

Authors:  Mirte J Bakker; J Gert van Dijk; Arn M J M van den Maagdenberg; Marina A J Tijssen
Journal:  Lancet Neurol       Date:  2006-06       Impact factor: 44.182

6.  Meta-analysis of gross insertions causing human genetic disease: novel mutational mechanisms and the role of replication slippage.

Authors:  Jian-Min Chen; Nadia Chuzhanova; Peter D Stenson; Claude Férec; David N Cooper
Journal:  Hum Mutat       Date:  2005-02       Impact factor: 4.878

7.  A frameshift mutation in the mouse alpha 1 glycine receptor gene (Glra1) results in progressive neurological symptoms and juvenile death.

Authors:  M S Buckwalter; S A Cook; M T Davisson; W F White; S A Camper
Journal:  Hum Mol Genet       Date:  1994-11       Impact factor: 6.150

Review 8.  Molecular structure and function of the glycine receptor chloride channel.

Authors:  Joseph W Lynch
Journal:  Physiol Rev       Date:  2004-10       Impact factor: 37.312

9.  A missense mutation in the gene encoding the alpha 1 subunit of the inhibitory glycine receptor in the spasmodic mouse.

Authors:  S G Ryan; M S Buckwalter; J W Lynch; C A Handford; L Segura; R Shiang; J J Wasmuth; S A Camper; P Schofield; P O'Connell
Journal:  Nat Genet       Date:  1994-06       Impact factor: 38.330

10.  Utilization of a whole genome SNP panel for efficient genetic mapping in the mouse.

Authors:  Jennifer L Moran; Andrew D Bolton; Pamela V Tran; Alison Brown; Noelle D Dwyer; Danielle K Manning; Bryan C Bjork; Cheng Li; Kate Montgomery; Sandra M Siepka; Martha Hotz Vitaterna; Joseph S Takahashi; Tim Wiltshire; David J Kwiatkowski; Raju Kucherlapati; David R Beier
Journal:  Genome Res       Date:  2006-02-03       Impact factor: 9.043
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  8 in total

1.  Defective glycinergic synaptic transmission in zebrafish motility mutants.

Authors:  Hiromi Hirata; Eloisa Carta; Iori Yamanaka; Robert J Harvey; John Y Kuwada
Journal:  Front Mol Neurosci       Date:  2010-01-08       Impact factor: 5.639

Review 2.  Glycine receptor mouse mutants: model systems for human hyperekplexia.

Authors:  Natascha Schaefer; Georg Langlhofer; Christoph J Kluck; Carmen Villmann
Journal:  Br J Pharmacol       Date:  2013-11       Impact factor: 8.739

3.  Novel missense mutations in the glycine receptor β subunit gene (GLRB) in startle disease.

Authors:  Victoria M James; Anna Bode; Seo-Kyung Chung; Jennifer L Gill; Maartje Nielsen; Frances M Cowan; Mihailo Vujic; Rhys H Thomas; Mark I Rees; Kirsten Harvey; Angelo Keramidas; Maya Topf; Ieke Ginjaar; Joseph W Lynch; Robert J Harvey
Journal:  Neurobiol Dis       Date:  2012-12-10       Impact factor: 5.996

4.  Functional Consequences of the Postnatal Switch From Neonatal to Mutant Adult Glycine Receptor α1 Subunits in the Shaky Mouse Model of Startle Disease.

Authors:  Natascha Schaefer; Fang Zheng; Johannes van Brederode; Alexandra Berger; Sophie Leacock; Hiromi Hirata; Christopher J Paige; Robert J Harvey; Christian Alzheimer; Carmen Villmann
Journal:  Front Mol Neurosci       Date:  2018-05-24       Impact factor: 5.639

5.  Glycine receptor mutants of the mouse: what are possible routes of inhibitory compensation?

Authors:  Natascha Schaefer; Nicolas Vogel; Carmen Villmann
Journal:  Front Mol Neurosci       Date:  2012-10-31       Impact factor: 5.639

6.  Distinct phenotypes in zebrafish models of human startle disease.

Authors:  Lisa R Ganser; Qing Yan; Victoria M James; Robert Kozol; Maya Topf; Robert J Harvey; Julia E Dallman
Journal:  Neurobiol Dis       Date:  2013-09-09       Impact factor: 5.996

Review 7.  Synaptopathies: synaptic dysfunction in neurological disorders - A review from students to students.

Authors:  Katarzyna Lepeta; Mychael V Lourenco; Barbara C Schweitzer; Pamela V Martino Adami; Priyanjalee Banerjee; Silvina Catuara-Solarz; Mario de La Fuente Revenga; Alain Marc Guillem; Mouna Haidar; Omamuyovwi M Ijomone; Bettina Nadorp; Lin Qi; Nirma D Perera; Louise K Refsgaard; Kimberley M Reid; Mariam Sabbar; Arghyadip Sahoo; Natascha Schaefer; Rebecca K Sheean; Anna Suska; Rajkumar Verma; Cinzia Vicidomini; Dean Wright; Xing-Ding Zhang; Constanze Seidenbecher
Journal:  J Neurochem       Date:  2016-09-08       Impact factor: 5.372

Review 8.  Impaired Glycine Receptor Trafficking in Neurological Diseases.

Authors:  Natascha Schaefer; Vera Roemer; Dieter Janzen; Carmen Villmann
Journal:  Front Mol Neurosci       Date:  2018-08-21       Impact factor: 5.639
  8 in total

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