Mapping of human microtubule-associated protein 1B in proximity to the spinal muscular atrophy locus at 5q13.
Mapping of human microtubule-associated protein 1B in proximity to the spinal muscular atrophy locus at 5q13.
复制标题
靠近 5q13 脊髓性肌萎缩基因座的人类微管相关蛋白 1B 的定位。
DOI：
10.1073/pnas.88.17.7873
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发表时间：
1991
影响因子：
11.1
通讯作者：
Kunkel,LM
中科院分区：
文献类型：
--
作者：
Lien,LL;Boyce,FM;Kleyn,P;Brzustowicz,LM;Menninger,J;Ward,DC;Gilliam,TC;Kunkel,LM
用抗dystrophin C-末端结构域的多克隆抗血清分离编码抗原性交叉反应蛋白微管相关蛋白1B(MAP-1B)的cDNA克隆。人类MAP-1B基因座的物理图谱将其染色体位置定位在5q13，靠近脊髓性肌萎缩症(SMA)基因座。SMA是一种退行性疾病，主要影响运动神经元。使用MAP-1B基因的人二核苷酸重复序列3‘多态对SMA家族的遗传连锁分析显示与SMA突变紧密连锁。这些定位数据与MAP-1B在神经元形态发生中的假设作用及其在前角运动神经元中的定位表明，MAP-1B可能与SMA有关。
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.