Exclusion of two candidate genes, Spnb-2 and Dcd, for the wobbler spinal muscular atrophy gene on proximal mouse chromosome 11.
Exclusion of two candidate genes, Spnb-2 and Dcd, for the wobbler spinal muscular atrophy gene on proximal mouse chromosome 11.
复制标题
排除近端小鼠 11 号染色体上摇摆脊髓性肌萎缩症基因的两个候选基因 Spnb-2 和 DCd。
DOI：
10.1007/bf00352348
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发表时间：
1994
期刊：
影响因子：
--
通讯作者：
Jockusch,H
中科院分区：
文献类型：
--
作者：
Lengeling,A;Zimmer,WE;Goodman,SR;Ma,Y;Bloom,ML;Bruneau,G;Krieger,M;Thibault,J;Kaupmann,K;Jockusch,H
Cell death of motoneurons can be observed in a variety of diseases of humans and other mammalian species. Only recently has the molecular basis of a human neurodegenerative disease, familial amyotrophic lateral sclerosis, been identified as a mutation in the enzyme superoxide dismutase (Rosen et al. 1993). However, neurodegenerative diseases are genetically heterogeneous so that there is a need for a variety of animal models (for a recent listing see Jones et al. 1993). Histochemically and biochemically the wobbler mouse (genotype wr/wr, phenotype WR) is one of the best studied animal models for motoneuron degeneration (Duchen and Strich 1968; Andrews et al. 1974; Duchen 1978; LaVail et al. 1987). WR mice are characterized by a partial loss of motoneurons in the spinal cord and in brainstem motor nuclei, which secondarily leads to muscular atrophy, predominantly in the proximal muscles of the forelimbs. In addition, the wr mutation causes a defect in spermiogenesis, characterized by cytoskeletal abnormalities (Leestma and Sepsenwol 1980) and a failure to form a functional acrosome (Heimann et al. 1991). The wobbler gene wr has been mapped to the proximal region of mouse Chromosome (Chr) 11 in the middle of the 4-cM interval between the erythroblastosis oncogene Erbb and reticuloendotheliosis oncogene Rel loci (Kaupmann et al. 1992) and is closely linked to the loci Yptl= Rabl and Glns (Wichmann et al. 1992). Rabl is a gene for a GTP-binding protein of the Ras-superfamily, possibly involved in intracellular protein and membrane transport (Segev et
