Mapping of human microtubule-associated protein 1B in proximity to the spinal muscular atrophy locus at 5q13.
收藏PubMed Central1991-09-01 更新2026-05-16 收录
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https://pmc.ncbi.nlm.nih.gov/articles/PMC52406/
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资源简介：
A polyclonal antiserum directed against the C-terminal domain of dystrophin was used to isolate a cDNA clone encoding an antigenically cross-reactive protein, microtubule-associated protein 1B (MAP-1B). Physical mapping of the human MAP-1B locus places its chromosomal location at 5q13, in proximity to the spinal muscular atrophy (SMA) locus. SMA is a degenerative disorder primarily affecting motor neurons. Genetic linkage analysis of SMA families using a human dinucleotide repeat polymorphism just 3' of the MAP-1B gene has shown tight linkage to SMA mutations. These mapping data together with the postulated role of MAP-1B in neuronal morphogenesis and its localization in anterior horn motor neurons suggest a possible association with SMA. IMAGES:
提供机构：
National Academy of Sciences
创建时间：
1991-09-01
