A frequent TG deletion near the polyadenylation signal of the human HEXB gene: Occurrence of an irregular DNA structure and conserved nucleotide sequence motif in the 3' untranslated region

Human Mutation

Volumn 12, Issue 5, 1998, Pages 320-329

  Kleiman, F E ^a,d   Oller Ramirez A ^b   Akerman, B ^c   De Kremer, R Dodelson ^b   Gravel, R A ^c   Argarana C E ^a  

^a UNIVERSIDAD NACIONAL DE CÓRDOBA   (Argentina)

^b FACULTAD DE CIENCIAS MÉDICAS   (Argentina)

^c RESEARCH INSTITUTE OF THE MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

^d Och Spine at New York Presbyterian Hospitals   (United States)

Author keywords

3' untranslated region; Bent DNA; HEXB polymorphism; Sandhoff disease; TGTTTT consensus sequence; hexosaminidase

Indexed keywords

ALLELE; ARGENTINA; ARTICLE; DNA DETERMINATION; DNA STRUCTURE; GENE DELETION; GENE MUTATION; GENETIC TRANSCRIPTION; HUMAN; NUCLEOTIDE SEQUENCE; POLYADENYLATION; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

EID: 0031694025     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1998)12:5<320::AID-HUMU5>3.0.CO;2-H     Document Type: Article

References (39)

1. Anderman E, Scriver C, Wolfe L, Dansky L, Andermann F (1977) Genetic variant of Tay-Sachs disease. In Kaback M (ed): Tay-Sachs Disease: Screening and Prevention. New York: Alan R. Liss, pp 161-188.
2. Banerjee P, Siciliano L, Oliveri D, McCabe NR, Boyers MJ, Horwitz AL, Li S, Dawson G (1991) Molecular basis of an adult form of β-hexosaminidase B deficiency with motor neuron disease. Biochem Biophys Res Commun 181.108-115.
3. Beccan T Orlacchio A, Stirling JL (1988) Identification of β-N-acetylhexosaminidase A in mouse tissues with the fluorogenic substrate 4-methylumbelliferyl-β-N-acetylglucosamine 6-sulfate. Biochem J 252:617-620.
4. Bouhkas T (1995) Chromatin domains and prediction of MAR sequences. Int Rev Cytol 162A:279-388.
5. Brown CA, Mclnnes B, Kremer RD, Mahuran DJ (1992) Characterization of two HEXB gene mutations in an Argentinean deme with a high frequency of Sandhoff disease. Biochim Biophys Acta 1180:91-98.
6. Chomczynski P, Sacchi N (1987) Single stranded method of RNA isolation by acid guanidinium thiocyanate phenol chloroform extraction. Anal Biochem 162:156-159.
7. Crothers DM, Haran TE, Nadeau JG (1990) Intrinsically bent DNA. J Biol Chem 265:7093-7096.
8. Der Kaloustian VM, Khoury MJ, Hallal R, Idriss ZH, Deeb ME, Wakid NW, Haddad FS (1981) Sandhoff disease. A prevalent form of infantile GM2 gangliosidosis in Lebanon. Am J Hum Genet 33:8 5-89.
9. Dlott B, D'Azzo A, Quon DVK, Neufeld EF (1990) Two mutations produce intron insertion in mRNA and elongated β-subunit of human β-hexosaminidase. J Biol Chem 265: 17921-17927.
10. Gravel RA, Clarke JTR, Kaback MM, Mahuran DJ, Sandhoff K, Suzuki K (1995) The GM2 gangliosidosis. In Scriver CR, Beaudet AL, Sly WS, Valle D (eds): The Metabolic and Molecular Bases of Inherited Disease. 7th Ed. New York: McGraw-Hill, pp 2839-2879.
11. Kleiman FE, Dodelson de Kremer R, Oller de Ramirez A, Gravel RA, Argaraña CE (1994) Sandhoff disease in Argentina: High frequency of a splice site mutation in the HEXB gene and correlation between enzyme and DNA-based tests for heterozygote detection. Hum Genet 94:279-282.
12. Korncluk RG, Mahuran DJ, Neote K, Klavins MH, O'Dowd BF, Tropak M, Willard HF, Anderson MJ, Lowden JA, Gravel RA (1986) Isolation of cDNA clones coding for the α-subunit of human β-hexosaminidase. Extensive homology between the α- and β-subunits and studies on Tay-Sachs disease. J Biol Chem 261:8407-8413.
13. Krawczak M, Cooper DN (1991) Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment. Hum Genet 86:425-441.
14. Kremer RD, Levstein I (1980) Enfermedad de Sandhoff o Gangliosidosis GM2, tipo 2. Medicina (Buenos Aires) 40:55-73.
15. Kremer RD, Boldini CD, Capra AP, Veritier PP Goldenhersch H, Corbella L, Sembaj A, Martin S, Kremer I, Mass L, Boscoboinik J (1987) Estimacion de la frecuencia de heterocigotas de la enfermedad de Sandhoff en una poblacion argentina de alto riesgo. Medicina (Buenos Aires) 47:455-463.
16. Lowden JA, Ives EJ, Keene DL, Burton AL, Skomorowski MA, Howard F (1978) Carrier detection in Sandhoff disease. Am J Hum Genet 30:38-45.
17. Makowaski GS, Aslanzadeh J, Hopffer S (1993) Mini gel PAGE for enhanced resolution of polymerase chain reaction detection of F508 deletion in cystic fibrosis. Clin Chem 39:2204-2205.
18. McInnes B, Brown CA, Mahuran DJ (1992a) Two small deletion mutations of the HEXB gene are present in DNA from a patient with infantile Sandhoff disease. Biochim Biophys Acta 1138:315-317.
19. Mclnnes B, Potier M, Wakamatsu N, Melancon SB, Klavins MH, Tsuji S, Mahuran DJ (1992b) An unusual splicing mutation in the HEXB gene is associated with dramatically different phenotypes in patients from different racial backgrounds. J Clin Invest 90:306-314.
20. Monnat RJ, Hackmann AFM, Chiaverotti TA (1992) Nucleotide sequence analysis of human hypoxanthine phosphoribosyl-transferase (HPRT) gene deletions. Genomics 13:777-787.
21. Moreira A, Wollerton M, Monks J, Proudfoot NJ (1995) Upstream sequence elements enhance poly(A) site efficiency of the C2 complement gene and are phylogenetically conserved. EMBO J 14:3809-3819.
22. Muldoon LL, Neuwelt EA, Pagel MA, Weiss DL (1994) Characterization of the molecular defect in a feline model for type II GM2 gangliosidosis (Sandhoff disease). Am J Pathol 144:1109-1118.
23. Nagaich AK, Bhattacharyya D, Brachmachari SK, Bansal M (1994) CA/TG sequence at the 5′ end of oligo (A)-tracts strongly modulates DNA curvature. J Biol Chem 269: 7824-7833.
24. Nakano T, Suzuki K (1989) Genetic cause of a juvenile form of Sandhoff disease. Abnormal splicing of β-hexosaminidase β chain gene transcript due to a point mutation within intron 12. J Biol Chem 264:5155-5158.
25. Neote K, Bapat B, Dumbrille-Ross A, Troxel C, Schuster SM, Mahuran DJ, Gravel RA (1988) Characterization of the human HEXB gene encoding lysosomal β-hexosaminidase. Genomics 3:279-286.
26. Neote K, McInnes B, Mahuran DJ, Gravel RA (1990) Structure and distribution of an Alu-type deletion mutation in Sandhoff disease. J Clin Invest 86:1524-1531.
27. O'Brien JS, Okada S, Chen A, Fillerup DL (1970) Tay-Sachs disease: Detection of heterozygotes and homozygotes by serum hexosaminidase assay. N Engl J Med 283:15-23.
28. O'Dowd BF, Klavins MH, Willard HF, Gravel RA, Lowden JA, Mahuran DJ (1986) Molecular heterogeneity in the infantile and juvenile forms of Sandhoff disease (0-variant GM2 gangliosidosis). J Biol Chem 261:12680-12685.
29. Pannetier C, Delassus S, Darche S, Saucier C, Kourilsky P (1993) Quantitative titration of nucleic acids by enzymatic amplification reactions run to saturation. Nucleic Acids Res 21:577-583.
30. Sallés FJ, Darrow AL, O'Connell ML, Strickland S (1992) Isolation of novel murine maternal mRNAs regulated by cytoplasmic polyadenylation. Genes Dev 6:1202-1212.
31. Sanger F, Nicklen S, Coulson AR (1977) DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci USA 74:5463-5467.
32. Tomatsu S, Fukeda S, Masue M, SukegawaK, Fukao T, Yamagishi A, Hori T, Iwata H, Ogawa T, Nakashima Y, Hanyu Y, Yagi K, Hashimoto T, Titani K, Oyama R, Suzuki M, Orii T (1991) Morquio disease: isolation, characterization and expression of full-length cDNA for human N-acetyl-galactosamine-6-sulfate sulfatase. Biochem Biophys Res Commun 181: 677-683.
33. Triggs-Raine BL, Benoit G, Salo TJ, Trasler JM, Gravel RA (1994) Characterization of the murine β-hexosaminidase HEXB gene. Biochim Biophys Acta 1227:79-86.
34. Valsamakis A, Schek N, Alwine JC (1992) Elements upstream of the AAUAAA within the human immunodeficiency virus polyadenylation signal are required for efficient polyadenylation in vitro. Mol Cell Biol 12:3699-3705.
35. Wakamatsu N, Kobayashi H, Miyatake T, Tsuji S (1992) A novel exon mutation in the human β-hexosaminidase β subunit gene affects 3 ′ splice site selection. J Biol Chem 267:2406-2413.
36. Wakamatsu N, Benoit G, Lamhonwah AM, Zhang ZX, Trasler JM, Triggs-Raine BL, Gravel RA (1994) Structural organization, sequence, and expression of the mouse HEXA gene encoding the α-subunit of the hexosaminidase-A. Genomics 24:110-119.
37. Warner TG, Kremer RD, Applegarth D, Mock AK (1985) Diagnosis and characterization of GM2 gangliosidosis type II (Sandhoff disease) by analysis of the accumulating N-acetylglucosaminyl oligosaccharides with high performance liquid chromatography. Clin Chim Acta 154:151-165.
38. Wenger DA, Williams C (1991) Screening for lysosomal disorders. In Hommes FA (ed): Techniques in Diagnostic Human Biochemical Genetics. New York: Wiley-Liss, pp 587-619.
39. Yamanaka S, Johnson ON, Norflus F, Boles DJ, Proia RL (1994) Structure and expression of the mouse beta-hexosaminidase genes, Hexa and Hexb. Genomics 21:588-596.