Mapping of Human Microtubule-Associated Protein 1B in Proximity to the Spinal Muscular Atrophy Locus at 5q13

• Published in: Proceedings of the National Academy of Sciences - PNAS 1991-09, Vol.88 (17), p.7873-7876
• Main Authors: LIEN, L. L, BOYCE, F. M, KLEYN, P, BRZUSTOWICZ, L. M, MENNINGER, J, WARD, D. C, CONRAD GILLIAM, T, KUNKEL, L. M
• Format: Article
• Language: English
• Subjects: 550400 - Genetics; ANIMAL CELLS; Animals; ATROPHY; Base Sequence; BASIC BIOLOGICAL SCIENCES; BETA DECAY RADIOISOTOPES; BETA-MINUS DECAY RADIOISOTOPES; Biological and medical sciences; Brain - physiology; Brain - physiopathology; CELL CONSTITUENTS; Chromosome Mapping; CHROMOSOMES; Chromosomes, Human, Pair 5; Complementary DNA; DAYS LIVING RADIOISOTOPES; DISEASES; Diseases of striated muscles. Neuromuscular diseases; Dystrophin - genetics; ETIOLOGY; Female; Genetic Linkage; Genetic loci; GENETIC MAPPING; Genomics; HEREDITARY DISEASES; HUMAN CHROMOSOME 5; HUMAN CHROMOSOMES; Human genetics; Humans; IMMUNE SERUMS; ISOTOPES; LIGHT NUCLEI; Male; MAPPING; Medical genetics; Medical sciences; Mice; Mice, Mutant Strains; Microtubule-Associated Proteins - genetics; MICROTUBULES; Molecular Sequence Data; MORPHOLOGICAL CHANGES; Motor neurons; Muscles; Muscles - physiology; Muscles - physiopathology; Muscular Atrophy, Spinal - genetics; Muscular Dystrophy, Animal - genetics; NERVE CELLS; Neurology; Neurons; NUCLEI; ODD-ODD NUCLEI; Oligonucleotide Probes; PATHOLOGICAL CHANGES; Pedigree; PHOSPHORUS 32; PHOSPHORUS ISOTOPES; RADIOISOTOPES; Reference Values; SOMATIC CELLS; spinal muscular atrophy
• ISSN: 0027-8424; 1091-6490
• DOI: 10.1073/pnas.88.17.7873

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.