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Publication : Mapping of human microtubule-associated protein 1B in proximity to the spinal muscular atrophy locus at 5q13.

First Author  Lien LL Year  1991
Journal  Proc Natl Acad Sci U S A Volume  88
Issue  17 Pages  7873-6
PubMed ID  1881920 Mgi Jnum  J:19258
Mgi Id  MGI:67445 Doi  10.1073/pnas.88.17.7873
Citation  Lien LL, et al. (1991) Mapping of human microtubule-associated protein 1B in proximity to the spinal muscular atrophy locus at 5q13. Proc Natl Acad Sci U S A 88(17):7873-6
abstractText  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.
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