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.
Lien
L L
LL
Department of Genetics, Harvard Medical School, Boston, MA 02115.
Boyce
F M
FM
Kleyn
P
P
Brzustowicz
L M
LM
Menninger
J
J
Ward
D C
DC
Gilliam
T C
TC
Kunkel
L M
LM
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
D016189:Dystrophin; D008869:Microtubule-Associated Proteins; D015345:Oligonucleotide Probes