Literature DB >> 19524067

Spatiotemporal expression in mouse brain of Kiaa2022, a gene disrupted in two patients with severe mental retardation.

Vincent Cantagrel1, Marie-Reine Haddad, Philippe Ciofi, David Andrieu, Anne-Marie Lossi, Lionel van Maldergem, Jean-Christophe Roux, Laurent Villard.   

Abstract

We previously identified an inactivating disruption of the X-linked KIAA2022 gene by a chromosomal rearrangement in two male patients with severe mental retardation. In order to determine if KIAA2022 has a role during the development of the central nervous system, we have cloned its murine ortholog, Kiaa2022, determined its genomic structure and studied its expression during mouse development. We show that Kiaa2022 is preferentially expressed in the central nervous system and that the transcript is highly expressed in postmitotic neurons. The expression of Kiaa2022 is first detectable at E10.5 to reach a maximum at P3 where it is notably expressed in the hippocampus, the entorhinal cortex and strongly in the ventral premammillary nucleus. After P3, the expression of Kiaa2022 decreases and maintains very low levels thereafter. Our results show that Kiaa2022 is expressed in the developing brain and that it may play a role in postmitotic, maturing neurons.

Entities:  

Year:  2009        PMID: 19524067     DOI: 10.1016/j.gep.2009.06.001

Source DB:  PubMed          Journal:  Gene Expr Patterns        ISSN: 1567-133X            Impact factor:   1.224


  9 in total

1.  NEXMIF/KIDLIA Knock-out Mouse Demonstrates Autism-Like Behaviors, Memory Deficits, and Impairments in Synapse Formation and Function.

Authors:  James Gilbert; Margaret O'Connor; Sebastian Templet; Mahsa Moghaddam; Anaïs Di Via Ioschpe; Amanda Sinclair; Ling-Qiang Zhu; Weifeng Xu; Heng-Ye Man
Journal:  J Neurosci       Date:  2019-11-08       Impact factor: 6.167

2.  Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth.

Authors:  Lionel Van Maldergem; Qingming Hou; Vera M Kalscheuer; Marlène Rio; Martine Doco-Fenzy; Ana Medeira; Arjan P M de Brouwer; Christelle Cabrol; Stefan A Haas; Pierre Cacciagli; Sébastien Moutton; Emilie Landais; Jacques Motte; Laurence Colleaux; Céline Bonnet; Laurent Villard; Juliette Dupont; Heng-Ye Man
Journal:  Hum Mol Genet       Date:  2013-04-24       Impact factor: 6.150

3.  Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother.

Authors:  Nelle Lambert; Corinne Dauve; Emmanuelle Ranza; Periklis Makrythanasis; Federico Santoni; Frédérique Sloan-Béna; Stefania Gimelli; Jean-Louis Blouin; Michel Guipponi; Armand Bottani; Stylianos E Antonarakis; Markus M Kosel; Joel Fluss; Ariane Paoloni-Giacobino
Journal:  J Hum Genet       Date:  2018-05-01       Impact factor: 3.172

4.  The X-Linked Autism Protein KIAA2022/KIDLIA Regulates Neurite Outgrowth via N-Cadherin and δ-Catenin Signaling.

Authors:  James Gilbert; Heng-Ye Man
Journal:  eNeuro       Date:  2016-10-28

Review 5.  Fundamental Elements in Autism: From Neurogenesis and Neurite Growth to Synaptic Plasticity.

Authors:  James Gilbert; Heng-Ye Man
Journal:  Front Cell Neurosci       Date:  2017-11-20       Impact factor: 5.505

6.  De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy.

Authors:  Iris M de Lange; Katherine L Helbig; Sarah Weckhuysen; Rikke S Møller; Milen Velinov; Natalia Dolzhanskaya; Eric Marsh; Ingo Helbig; Orrin Devinsky; Sha Tang; Heather C Mefford; Candace T Myers; Wim van Paesschen; Pasquale Striano; Koen van Gassen; Marjan van Kempen; Carolien G F de Kovel; Juliette Piard; Berge A Minassian; Marjan M Nezarati; André Pessoa; Aurelia Jacquette; Bridget Maher; Simona Balestrini; Sanjay Sisodiya; Marie Therese Abi Warde; Anne De St Martin; Jamel Chelly; Ruben van 't Slot; Lionel Van Maldergem; Eva H Brilstra; Bobby P C Koeleman
Journal:  J Med Genet       Date:  2016-06-29       Impact factor: 6.318

7.  Nexmifa Regulates Axon Morphogenesis in Motor Neurons in Zebrafish.

Authors:  Yu-Qin Zheng; Gui-Hai Suo; Dong Liu; Hai-Ying Li; You-Jia Wu; Hong Ni
Journal:  Front Mol Neurosci       Date:  2022-03-31       Impact factor: 5.639

8.  Loss of Nexmif results in the expression of phenotypic variability and loss of genomic integrity.

Authors:  Caroline Stekelenburg; Jean-Louis Blouin; Federico Santoni; Norann Zaghloul; Elisabeth A O'Hare; Rodolphe Dusaulcy; Pierre Maechler; Valerie M Schwitzgebel
Journal:  Sci Rep       Date:  2022-08-15       Impact factor: 4.996

Review 9.  Candidate Genes for Eyelid Myoclonia with Absences, Review of the Literature.

Authors:  Sonia Mayo; Irene Gómez-Manjón; Fco Javier Fernández-Martínez; Ana Camacho; Francisco Martínez; Julián Benito-León
Journal:  Int J Mol Sci       Date:  2021-05-25       Impact factor: 5.923

  9 in total

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