Literature DB >> 19191033

Expression profile and distribution of Efhc1 gene transcript during rodent brain development.

Fábio F Conte1, Patrícia A O Ribeiro, Rafael B Marchesini, Vinícius D B Pascoal, Joelcimar M Silva, Amanda R Oliveira, Rovílson Gilioli, Lourenço Sbragia, Jackson C Bittencourt, Iscia Lopes-Cendes.   

Abstract

One of the putative causative genes for juvenile myoclonic epilepsy (JME) is EFHC1. We report here the expression profile and distribution of Efhc1 messenger RNA (mRNA) during mouse and rat brain development. Real-time polymerase chain reaction revealed that there is no difference in the expression of Efhc1 mRNA between right and left hemispheres in both species. In addition, the highest levels of Efhc1 mRNA were found at intra-uterine stages in mouse and in adulthood in rat. In common, there was a progressive decrease in Efhc1 expression from 1-day-old neonates to 14-day-old animals in both species. In situ hybridization studies showed that rat and mouse Efhc1 mRNAs are expressed in ependymal cells of ventricle walls. Our findings suggest that Efhc1 expression is more important during initial phases of brain development and that at this stage it could be involved in key developmental mechanisms underlying JME.

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Year:  2009        PMID: 19191033     DOI: 10.1007/s12031-009-9179-6

Source DB:  PubMed          Journal:  J Mol Neurosci        ISSN: 0895-8696            Impact factor:   3.444


  32 in total

1.  Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method.

Authors:  K J Livak; T D Schmittgen
Journal:  Methods       Date:  2001-12       Impact factor: 3.608

2.  New neurons follow the flow of cerebrospinal fluid in the adult brain.

Authors:  Kazunobu Sawamoto; Hynek Wichterle; Oscar Gonzalez-Perez; Jeremy A Cholfin; Masayuki Yamada; Nathalie Spassky; Noel S Murcia; Jose Manuel Garcia-Verdugo; Oscar Marin; John L R Rubenstein; Marc Tessier-Lavigne; Hideyuki Okano; Arturo Alvarez-Buylla
Journal:  Science       Date:  2006-01-12       Impact factor: 47.728

3.  Doublecortin is a microtubule-associated protein and is expressed widely by migrating neurons.

Authors:  J G Gleeson; P T Lin; L A Flanagan; C A Walsh
Journal:  Neuron       Date:  1999-06       Impact factor: 17.173

4.  The mouse ortholog of EFHC1 implicated in juvenile myoclonic epilepsy is an axonemal protein widely conserved among organisms with motile cilia and flagella.

Authors:  Takashi Ikeda; Kazuho Ikeda; Masahiro Enomoto; Min Kyun Park; Masafumi Hirono; Ritsu Kamiya
Journal:  FEBS Lett       Date:  2005-01-31       Impact factor: 4.124

5.  Voxel-based morphometry in patients with idiopathic generalized epilepsies.

Authors:  Luiz Eduardo Betting; Susana Barreto Mory; Li Min Li; Iscia Lopes-Cendes; Marilisa M Guerreiro; Carlos A M Guerreiro; Fernando Cendes
Journal:  Neuroimage       Date:  2006-05-15       Impact factor: 6.556

6.  Patient mutations in doublecortin define a repeated tubulin-binding domain.

Authors:  K R Taylor; A K Holzer; J F Bazan; C A Walsh; J G Gleeson
Journal:  J Biol Chem       Date:  2000-11-03       Impact factor: 5.157

7.  BRD2 (RING3) is a probable major susceptibility gene for common juvenile myoclonic epilepsy.

Authors:  Deb K Pal; Oleg V Evgrafov; Paula Tabares; Fengli Zhang; Martina Durner; David A Greenberg
Journal:  Am J Hum Genet       Date:  2003-06-25       Impact factor: 11.025

8.  Sequential expression of Efhc1/myoclonin1 in choroid plexus and ependymal cell cilia.

Authors:  Toshimitsu Suzuki; Ikuyo Inoue; Tetsushi Yamagata; Noriyuki Morita; Teiichi Furuichi; Kazuhiro Yamakawa
Journal:  Biochem Biophys Res Commun       Date:  2007-12-28       Impact factor: 3.575

9.  Developmental and comparative aspects of posterior medial thalamocortical innervation of the barrel cortex in mice and rats.

Authors:  Elizabeth A Kichula; George W Huntley
Journal:  J Comp Neurol       Date:  2008-07-20       Impact factor: 3.215

Review 10.  Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13.

Authors:  W B Dobyns; O Reiner; R Carrozzo; D H Ledbetter
Journal:  JAMA       Date:  1993-12-15       Impact factor: 56.272

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  3 in total

1.  EFHC1, implicated in juvenile myoclonic epilepsy, functions at the cilium and synapse to modulate dopamine signaling.

Authors:  Catrina M Loucks; Kwangjin Park; Denise S Walker; Andrea H McEwan; Tiffany A Timbers; Evan L Ardiel; Laura J Grundy; Chunmei Li; Jacque-Lynne Johnson; Julie Kennedy; Oliver E Blacque; William Schafer; Catharine H Rankin; Michel R Leroux
Journal:  Elife       Date:  2019-02-27       Impact factor: 8.140

2.  Epilepsy protein Efhc1/myoclonin1 is expressed in cells with motile cilia but not in neurons or mitotic apparatuses in brain.

Authors:  Toshimitsu Suzuki; Ikuyo Inoue; Kazuhiro Yamakawa
Journal:  Sci Rep       Date:  2020-12-16       Impact factor: 4.379

3.  PACRG, a protein linked to ciliary motility, mediates cellular signaling.

Authors:  Catrina M Loucks; Nathan J Bialas; Martijn P J Dekkers; Denise S Walker; Laura J Grundy; Chunmei Li; P Nick Inglis; Katarzyna Kida; William R Schafer; Oliver E Blacque; Gert Jansen; Michel R Leroux
Journal:  Mol Biol Cell       Date:  2016-05-18       Impact factor: 4.138

  3 in total

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