RETRACTED: CERULOPLASMIN GENE DEFECT ASSOCIATED WITH EPILEPSY IN EL MICE (RETRACTED ARTICLE. SEE VOL 11, PG 104, 1995)

被引:21
作者
GAREY, CE [1 ]
SCHWARZMAN, AL [1 ]
RISE, ML [1 ]
SEYFRIED, TN [1 ]
机构
[1] BOSTON COLL, DEPT BIOL, CHESTNUT HILL, MA 02167 USA
关键词
D O I
10.1038/ng0494-426
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Epilepsy is a dominant trait in EL mice, a model for human complex partial seizures. We recently mapped the major gene, El-1, to chromosome 9 near the predicted location for the ceruloplasmin (Cp) gene. We now present evidence for a partial duplication in the Cp gene in EL mice. This Cp duplication is coinherited with seizures in backcross generations and is associated with enhanced expression of Cp mRNA and increased Cp oxidase activity. Moreover, the duplication is associated with an enhanced frequency of double recombinants, simulating negative interference. The findings are relevant to the basic mechanisms of epilepsy and to theories of genetic recombination and gene mapping.
引用
收藏
页码:426 / 431
页数:6
相关论文
共 48 条
[1]  
Anderson V E, 1986, Adv Neurol, V44, P59
[2]   MOVEMENT DISORDER WITH ABNORMAL COPPER-METABOLISM - A CASE-REPORT AND REVIEW OF THE LITERATURE [J].
ARAKI, K ;
TACHIBANA, I ;
UEDA, Y ;
KASHIMA, K .
JAPANESE JOURNAL OF MEDICINE, 1991, 30 (04) :383-386
[3]  
ARNATI P, 1965, GENETICS, V51, P369
[4]   INDUCTION OF HEPATIC AND PULMONARY CERULOPLASMIN GENE-EXPRESSION IN DEVELOPING GUINEA-PIGS FOLLOWING PREMATURE DELIVERY [J].
BINGLE, CD ;
KELLY, F ;
EPSTEIN, O ;
SRAI, SKS .
BIOCHIMICA ET BIOPHYSICA ACTA, 1992, 1139 (03) :217-221
[5]   BIOCHEMICAL CORRELATES OF EPILEPSY IN THE E1 MOUSE - ANALYSIS OF GLIAL FIBRILLARY ACIDIC PROTEIN AND GANGLIOSIDES [J].
BRIGANDE, JV ;
WIERASZKO, A ;
ALBERT, MD ;
BALKEMA, GW ;
SEYFRIED, TN .
JOURNAL OF NEUROCHEMISTRY, 1992, 58 (02) :752-760
[6]  
CHASE M, 1958, GENETICS, V43, P332
[7]   CLONING THE WILSON DISEASE GENE [J].
CHELLY, J ;
MONACO, AP .
NATURE GENETICS, 1993, 5 (04) :317-318
[8]  
CHUNG SH, 1983, BRAIN RES, V280, P323
[9]   A DENOVO PATHOLOGICAL POINT MUTATION AT THE 21-HYDROXYLASE LOCUS - IMPLICATIONS FOR GENE CONVERSION IN THE HUMAN GENOME [J].
COLLIER, S ;
TASSABEHJI, M ;
STRACHAN, T .
NATURE GENETICS, 1993, 3 (03) :260-265
[10]  
DEVLIN RH, 1990, AM J HUM GENET, V46, P112