Purkinje cell degeneration (pcd) phenotypes caused by mutations in the axotomy-induced gene, Nna1

被引:184
作者
Fernandez-Gonzalez, A
La Spada, AR
Treadaway, J
Higdon, JC
Harris, BS
Sidman, RL
Morgan, JI
Zuo, J
机构
[1] St Jude Childrens Res Hosp, Dept Dev Neurobiol, Memphis, TN 38105 USA
[2] Univ Washington, Dept Lab Med, Seattle, WA 98195 USA
[3] Univ Washington, Div Med Genet Med, Seattle, WA 98195 USA
[4] Jackson Lab, Bar Harbor, ME 04609 USA
[5] Harvard Univ, Sch Med, Boston, MA 02115 USA
[6] Beth Israel Deaconess Med Ctr, Dept Neurol, Boston, MA 02115 USA
关键词
D O I
10.1126/science.1068912
中图分类号
O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];
学科分类号
07 ; 0710 ; 09 ;
摘要
The classical recessive mouse mutant, Purkinje cell degeneration (pcd), exhibits adult-onset degeneration of cerebellar Purkinje neurons, retinal photoreceptors, olfactory bulb mitral neurons, and selected thalamic neurons, and has defective spermatogenesis. Here we identify Nna1 as the gene mutated in the original pcd and two additional pcd alleles (pcd(2J) and pcd(3J)). Nna1 encodes a putative nuclear protein containing a zinc carboxypeptidase domain initially identified by its induction in spinal motor neurons during axonal regeneration. The present study suggests an unexpected molecular link between neuronal degeneration and regeneration, and its results have potential implications for neurodegenerative diseases and male infertility.
引用
收藏
页码:1904 / 1906
页数:3
相关论文
共 50 条
[31]   Variable ocular phenotypes of posterior polymorphous corneal dystrophy caused by mutations in the ZEB1 gene [J].
Liskova, Petra ;
Filipec, Martin ;
Merjava, Stanislava ;
Jirsova, Katerina ;
Tuft, Stephen J. .
OPHTHALMIC GENETICS, 2010, 31 (04) :230-234
[32]   Cold-induced sweating syndrome is caused by mutations in the CRLF1 gene [J].
Knappskog, PM ;
Majewski, J ;
Livneh, A ;
Nilsen, PTE ;
Bringsli, JS ;
Ott, J ;
Boman, H .
AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 72 (02) :375-383
[33]   Generation of induced pluripotent stem cell lines from patients with LQT1 caused by heterozygous mutations in the KCNQ1 gene [J].
Ren, Lu ;
Jahng, James W. S. ;
Belbachir, Nadjet ;
Cook, Zachary ;
Rivero, Gabriela C. ;
Perez, Marco V. ;
Wu, Joseph C. .
STEM CELL RESEARCH, 2024, 78
[34]   Gene therapy with a promoter targeting both rods and cones rescues retinal degeneration caused by AIPL1 mutations [J].
Sun, X. ;
Pawlyk, B. ;
Xu, X. ;
Liu, X. ;
Bulgakov, O. V. ;
Adamian, M. ;
Sandberg, M. A. ;
Khani, S. C. ;
Tan, M-H ;
Smith, A. J. ;
Ali, R. R. ;
Li, T. .
GENE THERAPY, 2010, 17 (01) :117-131
[35]   Nevoid basal cell carcinoma syndrome caused by splicing mutations in the PTCH1 gene [J].
Kato, Chise ;
Fujii, Kentaro ;
Arai, Yuto ;
Hatsuse, Hiromi ;
Nagao, Kazuaki ;
Takayama, Yoshinaga ;
Kameyama, Kouzou ;
Fujii, Katsunori ;
Miyashita, Toshiyuki .
FAMILIAL CANCER, 2017, 16 (01) :131-138
[36]   Nevoid basal cell carcinoma syndrome caused by splicing mutations in the PTCH1 gene [J].
Chise Kato ;
Kentaro Fujii ;
Yuto Arai ;
Hiromi Hatsuse ;
Kazuaki Nagao ;
Yoshinaga Takayama ;
Kouzou Kameyama ;
Katsunori Fujii ;
Toshiyuki Miyashita .
Familial Cancer, 2017, 16 :131-138
[37]   Severe phenotypes of SMARD1 associated with novel mutations of the IGHMBP2 gene and nuclear degeneration of muscle and Schwann cells [J].
Jedrzejowska, Maria ;
Madej-Pilarczyk, Agnieszka ;
Fidzianska, Anna ;
Mierzewska, Hanna ;
Pronicka, Ewa ;
Obersztyn, Ewa ;
Gos, Monika ;
Pronicki, Maciej ;
Kmiec, Tomasz ;
Migdal, Marek ;
Mierzewska-Schmidt, Magdalena ;
Walczak-Wojtkowska, Iwona ;
Konopka, Elzbieta ;
Hausmanowa-Petrusewicz, Irena .
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, 2014, 18 (02) :183-192
[38]   Heatstroke-induced late-onset neurological deficits in mice caused by white matter demyelination, Purkinje cell degeneration, and synaptic impairment in the cerebellum [J].
Kazuyuki Miyamoto ;
Motoyasu Nakamura ;
Hirokazu Ohtaki ;
Keisuke Suzuki ;
Hiroki Yamaga ;
Kaoru Yanagisawa ;
Atsuo Maeda ;
Masaharu Yagi ;
Munetaka Hayashi ;
Kazuho Honda ;
Kenji Dohi .
Scientific Reports, 12
[39]   Heatstroke-induced late-onset neurological deficits in mice caused by white matter demyelination, Purkinje cell degeneration, and synaptic impairment in the cerebellum [J].
Miyamoto, Kazuyuki ;
Nakamura, Motoyasu ;
Ohtaki, Hirokazu ;
Suzuki, Keisuke ;
Yamaga, Hiroki ;
Yanagisawa, Kaoru ;
Maeda, Atsuo ;
Yagi, Masaharu ;
Hayashi, Munetaka ;
Honda, Kazuho ;
Dohi, Kenji .
SCIENTIFIC REPORTS, 2022, 12 (01)
[40]   RETRACTION: Gene therapy with a promoter targeting both rods and cones rescues retinal degeneration caused by AIPL1 mutations [J].
Sun, X. ;
Pawlyk, B. ;
Xu, X. ;
Liu, X. ;
Bulgakov, O. V. ;
Adamian, M. ;
Sandberg, M. A. ;
Khani, S. C. ;
Tan, M. -H ;
Smith, A. J. ;
Ali, R. R. ;
Li, T. .
GENE THERAPY, 2025, 32 (02) :172-172