Summary
Using a rat cDNA probe encoding for the C-terminal textension of the large neurofilament subunit (NF-H), we have assigned, by in situ hybridization, the human NF-H gene to the q121–q131 region of chromosome 22. This localization may have implications in neurological diseases such as meningioma where a recessive locus involved in oncogenesis is located within this region.
This is a preview of subscription content, log in via an institution to check access.
References
Carden MJ, Schlaepfer WW, Lee VM-Y (1985) The structure, biochemical properties and immunogenicity of neurofilament peripheral regions as determined by phosphorylation. J Biol Chem 260:9805–9817
Dautigny A, Pham-Dinh D, Roussel G, Felix JM, Nussbaum JL, Jollès P (1988) The large neurofilament subunit (NF-H): cDNA cloning and in situ detection. Biochem Biophys Res Commun (in press)
Dumanski JP, Carlbom E, Collins VP, Nordenskjöld M (1987) Deletion mapping of a locus on human chromosome 22 involved in the oncogenesis of meningioma. Proc Natl Acad Sci USA 84:9275–9279
Geisler N, Weber K (1982) The amino acid sequence of chicken muscle desmin provides a common structural model for intermediate filament proteins. EMBO J 1:1649–1656
Geisler N, Kaufmann E, Fischer S, Plessmann U, Weber K (1983) Neurofilament architecture combines structural principles of intermediate filaments with carboxy-terminal extensions increasing in size between triplet proteins. EMBO J 2:1295–1302
Hoffmann PN, Lasek RJ (1975) The slow component of axonal transport. Identification of major structural polypeptides of the axon and their generality among mammalian neurons. J Cell Biol 66:351–366
Julien JP, Mushynski WE (1982) Multiple phosphorylation sites in mammalian neurofilament polypeptides. J Biol Chem 257:10467–10470
Julien JP, Mushynski WE (1983) The distribution of phosphorylation sites among identified proteolytic fragments of mammalian neurofilaments. J Biol Chem 258:4019–4025
Julien JP, Grosveld F, Yazdanbaksh K, Flavell D, Meijer D, Mushynski WE (1987) The structure of a human neurofilament gene (NF-L): a unique exon-intron organization in the intermediate filament gene family. Biochim Biophys Acta 909:10–20
Lazarides E (1982) Intermediate filaments. Annu Rev Biochem 51:219–250
Liem RKH, Yen SH, Salomon GD, Shelanski ML (1978) Intermediate filaments in nervous tissues. J Cell Biol 79:637–645
Mattei MG, Philip N, Passage E, Moisan JP, Mandel JL, Mattei JF (1985) DNA probe localization at 18p113 band by in situ hybridization and identification of a small supernumerary chromosome. Hum Genet 69:268–271
Napolitano EW, Chin SSM, Colman DR, Liem RKH (1987) Complete amino acid sequence and in vitro expression of rat NF-M, the middle molecular weight neurofilament protein. J Neurosci 7: 2590–2599
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Mattei, M.G., Dautigny, A., Pham-Dinh, D. et al. The gene encoding the large human neurofilament subunit (NF-H) maps to the q121–q131 region on human chromosome 22. Hum Genet 80, 293–295 (1988). https://doi.org/10.1007/BF01790100
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF01790100