Journal of Inherited Metabolic Disease

, Volume 17, Issue 5, pp 593–600 | Cite as

Molecular genetics of Tay-Sachs disease in Japan

  • A. Tanaka
  • H. Sakazaki
  • H. Murakami
  • G. Isshiki
  • K. Suzuki
JSSIEM Meeting


Public Health Internal Medicine Molecular Genetic 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. Akli S, Chelly J, Lacorte JM, Poenaru L, Kahn A (1991) Seven novel mutations detected by chemical mismatch cleavage of PCR-amplified cDNA fragments.Genomics 11: 124–134.Google Scholar
  2. Akli S, Chomel JC, Lacorte JM, Bachner L, Poenau A, Poenau L (1993) Ten novel mutations in the HEXA gene in non-Jewish Tay-Sachs patients.Hum Mol Genet 2: 61–67.Google Scholar
  3. Arpaia A, Dumbrille-Ross A, Maler T et al (1988) Identification of an altered splice site in Ashkenazi Tay-Sachs disease.Nature 333: 85–86.Google Scholar
  4. Boustany RM, Tanaka A, Nishimoto J, Suzuki K (1991) Genetic cause of a juvenile form of Tay-Sachs disease in a Lebanese child.Ann Neurol 29: 104–107.Google Scholar
  5. Dos Santos MR, Tanaka A, Sa Miranda MC, Ribeiro MG, Maia M, Suzuki K (1991) GM2-gangliosidosis B1 variant: Analysis of β-hexosaminidase α gene mutations in 11 patients from a defined region in Portugal.Am J Hum Genet 49: 886–890.Google Scholar
  6. Klima H, Tanaka A, Schnabel D et al (1991) Characterization of full-length cDNAs and the gene coding for the human GM2 activator protein.FEBS Lett 289: 260–264.Google Scholar
  7. Kytzia HJ, Hinrichs U, Maire I, Suzuki K, Sandhof K (1983) Variant of GM2-gangliosidosis with hexosaminidase A having a severely changed substrate specificity.EMBO J 2: 1201–1205.Google Scholar
  8. Myerowitz R (1988) Splice junction mutation in some Ashkenazi Jews with Tay-Sachs disease: Evidence against a single defect within this ethnic group.Proc Natl Acad Sci USA 85: 3955–3959.Google Scholar
  9. Myerowitz R, Costigen FC (1988) The major defect in Ashkenazi Jews with Tay-Sachs disease is an insertion in the gene for the α-chain of β-hexosaminidase.J Biol Chem 263: 18587–18589.Google Scholar
  10. Myerowitz R, Hogikyan ND (1986) Different mutations in Ashkenazi Jewish and non-Jewish French Canadians with Tay-Sachs disease.Science 232: 1646–1648.Google Scholar
  11. Myerowitz R, Hogikyan ND (1987) A deletion involving Alu sequences in the β-hexosaminidase α-chain gene of French Canadian with Tay-Sachs disease.J Biol Chem 262: 15396–15399.Google Scholar
  12. Myerowitz R, Piekarz R, Neufeld EF, Shows TB, Suzuki K (1985) Human β-hexosaminidase α chain coding sequence and homology with the β chain.Proc Natl Acad Sci USA 82: 7830–7834.Google Scholar
  13. Navon R, Proia RL (1989) The mutations in Ashkenazi Jews with adult GM2 gangliosidosis, the adult form of Tay-Sachs disease.Science 243: 1471–1474.Google Scholar
  14. Navon R, Kolodney EH, Mitsumoto H, Thomas GH, Proia RL (1990) Ashkenazi-Jewish and non-Jewish adult GM2 gangliosidosis in patients share a common genetic defect.Am J Hum Genet 46: 817–821.Google Scholar
  15. Ohno K, Suzuki K (1988a) A splicing defect due to an exon-intron junctional mutation results in abnormal β-hexosaminidase α chain mRNAs in Ashkenazi Jewish patients with Tay-Sachs disease.Biochem Biophys Res Commun 153: 463–469.Google Scholar
  16. Ohno K, Suzuki K (1988b) Mutation in GM2-gangliosidosis B1 variant.J Neurochem 50: 316–318.Google Scholar
  17. Paw BH, Kaback MM, Neufeld EF (1989) Molecular bases of adult-onset and chronic GM2 gangliosidoses in patients of Ashkenazi Jewish origin: Substitution of serine for glycine at position 269 of the α subunit of β-hexosaminidase.Proc Natl Acad Sci USA 86: 2413–2417.Google Scholar
  18. Paw BH, Moskowitz SM, Uhrhammer N, Wright N, Kaback MM, Neufeld EF (1990) Juvenile GM2 gangliosidosis caused by substitution of histidine for arginine at position 499 or 504 of the α-subunit of β-hexosaminidase.J Biol Chem 265: 9452–9457.Google Scholar
  19. Proia RL (1988) Gene encoding the human β chain: Extensive homology of intron placement in the α- and β-chain genes.Proc Natl Acad Sci USA 85: 1883–1887.Google Scholar
  20. Proia RL, Soravia E (1987) Organization of the gene encoding the human β-hexosaminidase α chain.J Biol Chem 262: 5677–5681.Google Scholar
  21. Sambrook J, Fritsch EF, Maniatis T (1989)Molecular Cloning: A Laboratory Manual, 2nd edn. Cold Spring Harbor, NY: Cold Spring Harbor Laboratory Press.Google Scholar
  22. Schroeder M, Schnabel D, Suzuki K, Sandhoff K (1991) A mutation in the gene of a glycolipidbinding protein (GM2 activator) that causes GM2-gangliosidosis variant AB.FEBS Lett 290: 1–3.Google Scholar
  23. Tanaka A, Ohno K, Suzuki K (1988) GM2-gangliosidosis B1 variant: A wide geographic and ethnic distribution of the specific β-hexosaminidase α chain mutation originally identified in a Puerto Rican patient (1988).Biochem Biophys Res Commun 156: 1015–1019.Google Scholar
  24. Tanaka A, Ohno K, Sandhoff K et al (1990) GM2-gangliosidosis B1 variant: Analysis of β-hexosaminidase α gene abnormalities in seven patients.Am J Hum Genet 46: 329–339.Google Scholar
  25. Tanaka A, Sakuraba H, Isshiki G, Suzuki K (1993) The major mutation among Japanese patients with Tay-Sachs disease: A G-to-T transversion at the acceptor site of intron 5 of the β-hexosaminidase α gene.Biochem Biophys Res Commun 192: 539–546.Google Scholar

Copyright information

© Society for the Study of Inborn Errors of Metabolism and Kluwer Academic Publishers 1994

Authors and Affiliations

  • A. Tanaka
    • 1
  • H. Sakazaki
    • 2
  • H. Murakami
    • 1
  • G. Isshiki
    • 1
  • K. Suzuki
    • 3
  1. 1.Department of PediatricsOsaka City University School of MedicineOsaka
  2. 2.Department of PediatricsCardiac Center of Hyogo Prefectural Hospital in Amagasaki CityAmagasaki City, HyogoJapan
  3. 3.Brain and Development Research CenterUniversity of North Carolina School of Medicine, CB # 7250, University of North CarolinaChapel HillUSA

Personalised recommendations