MUTATION OF A NEW SODIUM-CHANNEL GENE, SCN8A, IN THE MOUSE MUTANT MOTOR END-PLATE DISEASE

被引：252

作者：

BURGESS, DL

KOHRMAN, DC

GALT, J

PLUMMER, NW

JONES, JM

SPEAR, B

MEISLER, MH

机构：

[1] UNIV MICHIGAN,SCH MED,DEPT HUMAN GENET,ANN ARBOR,MI 48109

[2] UNIV KENTUCKY,DEPT MICROBIOL & IMMUNOL & PATHOL,LEXINGTON,KY 40536

来源：

NATURE GENETICS | 1995年 / 10卷 / 04期

关键词：

D O I：

10.1038/ng0895-461

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The mouse neurological mutant 'motor endplate disease' (med) is characterized by early onset progressive paralysis of the hind limbs, severe muscle atrophy, degeneration of Purkinje cells and juvenile lethality. We have isolated a voltage-gated sodium channel gene, Scn8a, from the flanking region of a transgene-induced allele of med. Scn8a is expressed in brain and spinal cord but not in skeletal muscle or heart, and encodes a predicted protein of 1,732 amino acids. An intragenic deletion at the transgene insertion site results in loss of expression. Scn8a is closely related to other sodium channel alpha subunits, with greatest similarity to a brain transcript from the pufferfish Fugu rubripes. The human homologue, SCN8A, maps to chromosome 12q13 and is a candidate gene for inherited neurodegenerative disease.

引用

页码：461 / 465

页数：5

共 26 条

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