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

来源：

SCIENCE | 2002年 / 295卷 / 5561期

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

页码：1904 / 1906

页数：3

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