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

Proc Natl Acad Sci U S A. 1991 Sep 1;88(17):7873-6. doi: 10.1073/pnas.88.17.7873.

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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Animals
  • Base Sequence
  • Brain / physiology
  • Brain / physiopathology
  • Chromosome Mapping*
  • Chromosomes, Human, Pair 5*
  • Dystrophin / genetics
  • Female
  • Genetic Linkage
  • Humans
  • Male
  • Mice
  • Mice, Mutant Strains
  • Microtubule-Associated Proteins / genetics*
  • Molecular Sequence Data
  • Muscles / physiology
  • Muscles / physiopathology
  • Muscular Atrophy, Spinal / genetics*
  • Muscular Dystrophy, Animal / genetics*
  • Oligonucleotide Probes
  • Pedigree
  • Reference Values

Substances

  • Dystrophin
  • Microtubule-Associated Proteins
  • Oligonucleotide Probes