title: Mapping of human microtubule-associated protein 1B in proximity to the spinal muscular atrophy locus at 5q13.
abstract: 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.
authors.affiliation: Department of Genetics, Harvard Medical School, Boston, MA 02115.
authors.forename: L L
authors.initials: LL
authors.lastname: Lien
authors.forename: F M
authors.initials: FM
authors.lastname: Boyce
authors.forename: P
authors.initials: P
authors.lastname: Kleyn
authors.forename: L M
authors.initials: LM
authors.lastname: Brzustowicz
authors.forename: J
authors.initials: J
authors.lastname: Menninger
authors.forename: D C
authors.initials: DC
authors.lastname: Ward
authors.forename: T C
authors.initials: TC
authors.lastname: Gilliam
authors.forename: L M
authors.initials: LM
authors.lastname: Kunkel
mesh_terms: D000818:Animals; D001483:Base Sequence; D001921:Brain / Q000502:physiology / Q000503:physiopathology; D002874:Chromosome Mapping; D002895:Chromosomes, Human, Pair 5; D016189:Dystrophin / Q000235:genetics; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D051379:Mice; D008817:Mice, Mutant Strains; D008869:Microtubule-Associated Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D009132:Muscles / Q000502:physiology / Q000503:physiopathology; D009134:Muscular Atrophy, Spinal / Q000235:genetics*; D009137:Muscular Dystrophy, Animal / Q000235:genetics*; D015345:Oligonucleotide Probes; D010375:Pedigree; D012016:Reference Values
chemical_list: D016189:Dystrophin; D008869:Microtubule-Associated Proteins; D015345:Oligonucleotide Probes