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

被引:20
作者
Cantagrel, Vincent [1 ,2 ]
Haddad, Marie-Reine [1 ,2 ]
Ciofi, Philippe [3 ]
Andrieu, David [4 ]
Lossi, Anne-Marie [1 ,2 ]
van Maldergem, Lionel [5 ]
Roux, Jean-Christophe [1 ,2 ]
Villard, Laurent [1 ,2 ]
机构
[1] Fac Med Timone, INSERM, U910, F-13385 Marseille 5, France
[2] Aix Marseille Univ, Fac Med Timone, Marseille, France
[3] INSERM, Neuroctr Magendie, U862, Bordeaux, France
[4] CNRS, IBDML, UMR6156, Marseille, France
[5] Univ Liege, Ctr Genet Humaine, Liege, Belgium
关键词
Kiaa2022; Mental retardation; Ventral premammillary nucleus; X chromosome; postmitotic neurons; CELLS;
D O I
10.1016/j.gep.2009.06.001
中图分类号
Q [生物科学];
学科分类号
07 ; 0710 ; 09 ;
摘要
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. (C) 2009 Elsevier B.V. All rights reserved.
引用
收藏
页码:423 / 429
页数:7
相关论文
共 20 条
[1]   Expression of the Prader-Willi gene Necdin during mouse nervous system development correlates with neuronal differentiation and p75NTR expression [J].
Andrieu, D ;
Watrin, F ;
Niinobe, M ;
Yoshikawa, K ;
Muscatelli, F ;
Fernandez, PA .
GENE EXPRESSION PATTERNS, 2003, 3 (06) :761-765
[2]   The contribution of the DNA damage response to neuronal viability [J].
Barzilai, Ari .
ANTIOXIDANTS & REDOX SIGNALING, 2007, 9 (02) :211-218
[3]   Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems [J].
Brooks, AS ;
Bertoli-Avella, AM ;
Burzynski, GM ;
Breedveld, GJ ;
Osinga, J ;
Boven, LG ;
Hurst, JA ;
Mancini, GMS ;
Lequin, MH ;
de Coo, RF ;
Matera, I ;
de Graaff, E ;
Meijers, C ;
Willems, PJ ;
Tibboel, D ;
Oostra, BA ;
Hofstra, RMW .
AMERICAN JOURNAL OF HUMAN GENETICS, 2005, 77 (01) :120-126
[4]   Disruption of a new X linked gene highly expressed in brain in a family with two mentally retarded males [J].
Cantagrel, V ;
Lossi, AM ;
Boulanger, S ;
Depetris, D ;
Mattei, MG ;
Gecz, J ;
Schwartz, CE ;
Van Maldergem, L ;
Villard, L .
JOURNAL OF MEDICAL GENETICS, 2004, 41 (10) :736-742
[5]  
Doetsch F, 1997, J NEUROSCI, V17, P5046
[6]   Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation [J].
Hagens, O ;
Dubos, A ;
Abidi, F ;
Barbi, G ;
Van Zutven, L ;
Hoeltzenbein, M ;
Tommerup, N ;
Moraine, C ;
Fryns, JP ;
Chelly, J ;
van Bokhoven, H ;
Gécz, J ;
Dollfus, HN ;
Ropers, HH ;
Schwartz, CE ;
dos Santos, RCS ;
Kalscheuer, V ;
Hanauer, A .
HUMAN GENETICS, 2006, 118 (05) :578-590
[7]  
KAUFMANN MH, 2003, ATLAS MOUSE DEV
[8]   A full-length cDNA of hREV3 is predicted to encode DNA polymerase ξ for damage-induced mutagenesis in humans [J].
Lin, WS ;
Wu, XH ;
Wang, ZG .
MUTATION RESEARCH-DNA REPAIR, 1999, 433 (02) :89-98
[9]  
Magavi Sanjay S., 2008, V438, P335, DOI 10.1007/978-1-59745-133-8_25
[10]  
MULLEN RJ, 1992, DEVELOPMENT, V116, P201