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. 1991 Sep 1;88(17):7873–7876. doi: 10.1073/pnas.88.17.7873

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

L L Lien 1, F M Boyce 1, P Kleyn 1, L M Brzustowicz 1, J Menninger 1, D C Ward 1, T C Gilliam 1, L M Kunkel 1
PMCID: PMC52406  PMID: 1881920

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.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Aldridge J., Kunkel L., Bruns G., Tantravahi U., Lalande M., Brewster T., Moreau E., Wilson M., Bromley W., Roderick T. A strategy to reveal high-frequency RFLPs along the human X chromosome. Am J Hum Genet. 1984 May;36(3):546–564. [PMC free article] [PubMed] [Google Scholar]
  2. Arahata K., Ishiura S., Ishiguro T., Tsukahara T., Suhara Y., Eguchi C., Ishihara T., Nonaka I., Ozawa E., Sugita H. Immunostaining of skeletal and cardiac muscle surface membrane with antibody against Duchenne muscular dystrophy peptide. Nature. 1988 Jun 30;333(6176):861–863. doi: 10.1038/333861a0. [DOI] [PubMed] [Google Scholar]
  3. Baldini A., Ward D. C. In situ hybridization banding of human chromosomes with Alu-PCR products: a simultaneous karyotype for gene mapping studies. Genomics. 1991 Apr;9(4):770–774. doi: 10.1016/0888-7543(91)90374-n. [DOI] [PubMed] [Google Scholar]
  4. Brzustowicz L. M., Lehner T., Castilla L. H., Penchaszadeh G. K., Wilhelmsen K. C., Daniels R., Davies K. E., Leppert M., Ziter F., Wood D. Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3. Nature. 1990 Apr 5;344(6266):540–541. doi: 10.1038/344540a0. [DOI] [PubMed] [Google Scholar]
  5. Byers T. J., Husain-Chishti A., Dubreuil R. R., Branton D., Goldstein L. S. Sequence similarity of the amino-terminal domain of Drosophila beta spectrin to alpha actinin and dystrophin. J Cell Biol. 1989 Oct;109(4 Pt 1):1633–1641. doi: 10.1083/jcb.109.4.1633. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. Chirgwin J. M., Przybyla A. E., MacDonald R. J., Rutter W. J. Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease. Biochemistry. 1979 Nov 27;18(24):5294–5299. doi: 10.1021/bi00591a005. [DOI] [PubMed] [Google Scholar]
  7. Davies K. A., Lux S. E. Hereditary disorders of the red cell membrane skeleton. Trends Genet. 1989 Jul;5(7):222–227. doi: 10.1016/0168-9525(89)90086-3. [DOI] [PubMed] [Google Scholar]
  8. Davison M. D., Critchley D. R. alpha-Actinins and the DMD protein contain spectrin-like repeats. Cell. 1988 Jan 29;52(2):159–160. doi: 10.1016/0092-8674(88)90503-x. [DOI] [PubMed] [Google Scholar]
  9. Dieckmann C. L., Tzagoloff A. Assembly of the mitochondrial membrane system. CBP6, a yeast nuclear gene necessary for synthesis of cytochrome b. J Biol Chem. 1985 Feb 10;260(3):1513–1520. [PubMed] [Google Scholar]
  10. Feener C. A., Boyce F. M., Kunkel L. M. Rapid detection of CA polymorphisms in cloned DNA: application to the 5' region of the dystrophin gene. Am J Hum Genet. 1991 Mar;48(3):621–627. [PMC free article] [PubMed] [Google Scholar]
  11. Feener C. A., Koenig M., Kunkel L. M. Alternative splicing of human dystrophin mRNA generates isoforms at the carboxy terminus. Nature. 1989 Apr 6;338(6215):509–511. doi: 10.1038/338509a0. [DOI] [PubMed] [Google Scholar]
  12. Gilliam T. C., Brzustowicz L. M., Castilla L. H., Lehner T., Penchaszadeh G. K., Daniels R. J., Byth B. C., Knowles J., Hislop J. E., Shapira Y. Genetic homogeneity between acute and chronic forms of spinal muscular atrophy. Nature. 1990 Jun 28;345(6278):823–825. doi: 10.1038/345823a0. [DOI] [PubMed] [Google Scholar]
  13. Hoffman E. P., Brown R. H., Jr, Kunkel L. M. Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell. 1987 Dec 24;51(6):919–928. doi: 10.1016/0092-8674(87)90579-4. [DOI] [PubMed] [Google Scholar]
  14. Hoffman E. P. Human molecular genetics and the elucidation of the primary biochemical defect in Duchenne muscular dystrophy. Cell Motil Cytoskeleton. 1989;14(1):163–168. doi: 10.1002/cm.970140127. [DOI] [PubMed] [Google Scholar]
  15. Hoffman E. P., Kunkel L. M., Angelini C., Clarke A., Johnson M., Harris J. B. Improved diagnosis of Becker muscular dystrophy by dystrophin testing. Neurology. 1989 Aug;39(8):1011–1017. doi: 10.1212/wnl.39.8.1011. [DOI] [PubMed] [Google Scholar]
  16. Hoffman E. P., Monaco A. P., Feener C. C., Kunkel L. M. Conservation of the Duchenne muscular dystrophy gene in mice and humans. Science. 1987 Oct 16;238(4825):347–350. doi: 10.1126/science.3659917. [DOI] [PubMed] [Google Scholar]
  17. Hoffman E. P., Watkins S. C., Slayter H. S., Kunkel L. M. Detection of a specific isoform of alpha-actinin with antisera directed against dystrophin. J Cell Biol. 1989 Feb;108(2):503–510. doi: 10.1083/jcb.108.2.503. [DOI] [PMC free article] [PubMed] [Google Scholar]
  18. Koenig M., Kunkel L. M. Detailed analysis of the repeat domain of dystrophin reveals four potential hinge segments that may confer flexibility. J Biol Chem. 1990 Mar 15;265(8):4560–4566. [PubMed] [Google Scholar]
  19. Lathrop G. M., Lalouel J. M., Julier C., Ott J. Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci U S A. 1984 Jun;81(11):3443–3446. doi: 10.1073/pnas.81.11.3443. [DOI] [PMC free article] [PubMed] [Google Scholar]
  20. Lichter P., Tang C. J., Call K., Hermanson G., Evans G. A., Housman D., Ward D. C. High-resolution mapping of human chromosome 11 by in situ hybridization with cosmid clones. Science. 1990 Jan 5;247(4938):64–69. doi: 10.1126/science.2294592. [DOI] [PubMed] [Google Scholar]
  21. Lidov H. G., Byers T. J., Watkins S. C., Kunkel L. M. Localization of dystrophin to postsynaptic regions of central nervous system cortical neurons. Nature. 1990 Dec 20;348(6303):725–728. doi: 10.1038/348725a0. [DOI] [PubMed] [Google Scholar]
  22. Love D. R., Hill D. F., Dickson G., Spurr N. K., Byth B. C., Marsden R. F., Walsh F. S., Edwards Y. H., Davies K. E. An autosomal transcript in skeletal muscle with homology to dystrophin. Nature. 1989 May 4;339(6219):55–58. doi: 10.1038/339055a0. [DOI] [PubMed] [Google Scholar]
  23. Melki J., Abdelhak S., Sheth P., Bachelot M. F., Burlet P., Marcadet A., Aicardi J., Barois A., Carriere J. P., Fardeau M. Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q. Nature. 1990 Apr 19;344(6268):767–768. doi: 10.1038/344767a0. [DOI] [PubMed] [Google Scholar]
  24. Munsat T. L., Skerry L., Korf B., Pober B., Schapira Y., Gascon G. G., al-Rajeh S. M., Dubowitz V., Davies K., Brzustowicz L. M. Phenotypic heterogeneity of spinal muscular atrophy mapping to chromosome 5q11.2-13.3 (SMA 5q). Neurology. 1990 Dec;40(12):1831–1836. doi: 10.1212/wnl.40.12.1831. [DOI] [PubMed] [Google Scholar]
  25. Noble M., Lewis S. A., Cowan N. J. The microtubule binding domain of microtubule-associated protein MAP1B contains a repeated sequence motif unrelated to that of MAP2 and tau. J Cell Biol. 1989 Dec;109(6 Pt 2):3367–3376. doi: 10.1083/jcb.109.6.3367. [DOI] [PMC free article] [PubMed] [Google Scholar]
  26. Sanger F., Nicklen S., Coulson A. R. DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci U S A. 1977 Dec;74(12):5463–5467. doi: 10.1073/pnas.74.12.5463. [DOI] [PMC free article] [PubMed] [Google Scholar]
  27. Sato-Yoshitake R., Shiomura Y., Miyasaka H., Hirokawa N. Microtubule-associated protein 1B: molecular structure, localization, and phosphorylation-dependent expression in developing neurons. Neuron. 1989 Aug;3(2):229–238. doi: 10.1016/0896-6273(89)90036-6. [DOI] [PubMed] [Google Scholar]
  28. Southern E. M. Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol. 1975 Nov 5;98(3):503–517. doi: 10.1016/s0022-2836(75)80083-0. [DOI] [PubMed] [Google Scholar]
  29. Tucker R. P., Binder L. I., Matus A. I. Neuronal microtubule-associated proteins in the embryonic avian spinal cord. J Comp Neurol. 1988 May 1;271(1):44–55. doi: 10.1002/cne.902710106. [DOI] [PubMed] [Google Scholar]
  30. Tucker R. P., Garner C. C., Matus A. In situ localization of microtubule-associated protein mRNA in the developing and adult rat brain. Neuron. 1989 Mar;2(3):1245–1256. doi: 10.1016/0896-6273(89)90309-7. [DOI] [PubMed] [Google Scholar]
  31. Viereck C., Tucker R. P., Matus A. The adult rat olfactory system expresses microtubule-associated proteins found in the developing brain. J Neurosci. 1989 Oct;9(10):3547–3557. doi: 10.1523/JNEUROSCI.09-10-03547.1989. [DOI] [PMC free article] [PubMed] [Google Scholar]
  32. Watkins S. C., Hoffman E. P., Slayter H. S., Kunkel L. M. Immunoelectron microscopic localization of dystrophin in myofibres. Nature. 1988 Jun 30;333(6176):863–866. doi: 10.1038/333863a0. [DOI] [PubMed] [Google Scholar]
  33. Zubrzycka-Gaarn E. E., Bulman D. E., Karpati G., Burghes A. H., Belfall B., Klamut H. J., Talbot J., Hodges R. S., Ray P. N., Worton R. G. The Duchenne muscular dystrophy gene product is localized in sarcolemma of human skeletal muscle. Nature. 1988 Jun 2;333(6172):466–469. doi: 10.1038/333466a0. [DOI] [PubMed] [Google Scholar]

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