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Science 8 March 2002:
Vol. 295. no. 5561, pp. 1904 - 1906
DOI: 10.1126/science.1068912
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Reports

Purkinje cell degeneration (pcd) Phenotypes Caused by Mutations in the Axotomy-Induced Gene, Nna1

Angeles Fernandez-Gonzalez,1* Albert R. La Spada,2* Jason Treadaway,1 Jason C. Higdon,1 Belinda S. Harris,3 Richard L. Sidman,4 James I. Morgan,1 Jian Zuo1dagger

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 (pcd2J and pcd3J). 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.

1 Department of Developmental Neurobiology, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.
2 Department of Laboratory Medicine and Division of Medical Genetics (Medicine), University of Washington, Seattle, WA 98195-7110, USA.
3 The Jackson Laboratory, Bar Harbor, ME 04609, USA.
4 Harvard Medical School and Department of Neurology, Beth Israel Deaconess Medical Center, Boston, MA 02115, USA.
*   These authors contributed equally to this work.

dagger    To whom correspondence should be addressed. E-mail: jian.zuo{at}stjude.org

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