Summary
Salla disease is an inherited lysosomal storage disorder caused by accumulation of free sialic acid in the lysosomes. Lamp genes, lamp A and lamp B (lysosome associated membrane proteins), are the first known genes encoding for human lysosomal membrane proteins. Absence of linkage in a large group of families shows that lamp genes are not involved in Salla disease. The lamp genes were localized, using Southern hybridization in hamster — human hybrid cell panels, to chromosomes 13 (lamp A) and X (lamp B).
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Aula P, Autio S, Raivio KO, Rapola J, Thodèn C-J, Koskela S-L, Yamashina I (1979) “Salla disease”. A new lysosomal storage disorder. Arch Neurol 36:88–94
Aula P, Renlund M, Raivio K (1986) Screening of inherited oligosaccharidurias among mentally retarded patients in Northern Finland. J Ment Defie Res 30:365–368
Fukuda M, Viitala J, Matteson J, Carlsson SR (1988) Cloning of cDNAs encoding human lysosomal membrane glycoproteins, h-lamp-1 and h-lamp-2. J Biol Chem 263:18920–18928
Human Gene Mapping 10 (1989) 10th International Workshop on Human Gene Mapping. Cytogenet Cell Genet 51:764
Lathrop GM, Lauel JM, Julier C, Ott J (1984) Strategies for multipoint linkage analysis in humans. Proc Natl Acad Sci USA 81:3443–3446
Leppert M, Cavenee W, Callahan P, Holm T, O'Connell P, Thompson K, Lathrop GM, LaLouel JM, White R (1986) A primary genetic map of chromosome 13q. Am J Hum Genet 39:425–437
Mancini GMS, Jonge HR de, Galjaard H, Verheijen FW (1989) Characterization of a protein-driven carrier for sialic acid in the lysosomal membrane. J Biol Chem 264:15247–15254
Mancini GMS, Beerens CEMT, Aula PP, Verheijen FW (1991) Sialic acid storage diseases. A multiple lysosomal transport defect for acidic monosaccharides. J Clin Invest 87:1329–1335
Mattei M-G, Matterson J, Chen JW, Williams M, Fukuda M (1990) Two human lysosomal membrane glycoproteins, h-lamp-1 and h-lamp-2, are encoded by genes localized to chromosome 13q34 and chromosome Xq24–25, respectively. J Biol Chem 265:7548–7551
Renlund M, Kovanen PT, Raivio K, Aula P, Gahmberg CG, Ehnholm C (1986) Studies on the defect underlying the lysosomal storage of sialic acid in Salla disease. J Clin Invest 77:568–574
Southern EM (1975) Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol 98: 503–517
Viitala J, Carlsson SR, Siebert PD, Fukuda M (1988) Molecular cloning of cDNAs encoding lamp A, a human lysosomal membrane glycoprotein with apparent Mr. ≈ 120,000. Proc Natl Acad Sci USA 85:3743–3747
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Schleutker, J., Haataja, L., Renlund, M. et al. Confirmation of the chromosomal localization of human lamp genes and their exclusion as candidate genes for Salla disease. Hum Genet 88, 95–97 (1991). https://doi.org/10.1007/BF00204936
Received:
Revised:
Issue Date:
DOI: https://doi.org/10.1007/BF00204936