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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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

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.[1]

References

  1. Mapping of human microtubule-associated protein 1B in proximity to the spinal muscular atrophy locus at 5q13. Lien, L.L., Boyce, F.M., Kleyn, P., Brzustowicz, L.M., Menninger, J., Ward, D.C., Gilliam, T.C., Kunkel, L.M. Proc. Natl. Acad. Sci. U.S.A. (1991) [Pubmed]
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