Donor splice mutation (665 + 1 G_T) in familial hypobetalipoproteinemia with no detectable apoB truncation

American Journal of Medical Genetics

Volumn 80, Issue 3, 1998, Pages 218-220

  Pulai, Judit I ^a   Zakeri, Hamideh ^a   Kwok, Pui Yan ^a   Kim, Jeong Ho ^a   Wu, Jingshi ^a   Schonfeld, Gustav ^a  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Apolipoprotein B; Genetics; Truncation

Indexed keywords

MESSENGER RNA;

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; CLINICAL ARTICLE; DNA POLYMORPHISM; FAMILIAL DISEASE; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC LINKAGE; HUMAN; HYPOBETALIPOPROTEINEMIA; IMMUNOBLOTTING; MALE; PHENOTYPE; PRIORITY JOURNAL;

ADOLESCENT; ADULT; AGED; APOLIPOPROTEINS B; CHILD, PRESCHOOL; FEMALE; GUANINE; HUMANS; HYPOBETALIPOPROTEINEMIAS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; POLYMORPHISM, GENETIC; RNA SPLICING; THYMINE;

EID: 0031725165     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/(sici)1096-8628(19981116)80:3<218::aid-ajmg7>3.0.co;2-0     Document Type: Article

References (17)

1. Aebi M, Horning H, Weissmann C (1987): 5′ cleavage site in eukaryotic pre-mRNA splicing is determined by the overall 5′ splice region, not by the conserved 5′ GU. Cell 50:237-46.
2. Collins DR, Knoff TJ, Pease RJ, Powell ML, Wallis SC, Roberston S, Pullinger CR, Milne RW, Marcel YL, Humphries SE, Talnurd PI, Lloyd JK, Miller NE, Muller D, Scott J (1988): Truncated variants of apolipoprotein B cause hypobetalipoproteinemia. Nucl Acids R 16:8361-8375.
3. Contois JH, McNamara JR, Lammi-Keefe CJ, Wilson PWF, Massov T, Schaefer EJ (1996): Reference intervals for plasma apolipoprotein B determined with a standardized commercial immunoturbidimetric assay: Results from the Framingham Offspring Study. Clin Chem 42: 515-523.
4. Havel RJ, Kane JP (1995): Disorders of the biogenesis and secretion of lipoproteins containing the B apolipoproteins. In Scriver CR, Beaudet AL, Sly WS, Valle D (eds): The Metabolic Basis of Inherited Disease, ed 7. New York, McGraw-Hill Book Co., pp 1853-1886.
5. Huang LS, Ripps ME, Korman SH, Deckelbaum R, Breslow JL (1989): Hypobetalipoproteinemia due to an apolipoprotein B gene exon 21 deletion derived by alu-alu recombination. J Biol Chem 264:1394-1400.
6. Huang LS, Kayden H, Sokol RJ, Breslow JL (1991): ApoB gene nonsense and splicing mutations in a compound heterozygote for familial hypobetalipoproteinemia. J Lipid Res 32:1341-1348.
7. Knott, TJ, Wallis SC, Powell LM, Pease RJ, Lusis AJ, Blackhart B, McCarthy BJ, Mahley RW, Levy-Wilson B, Scott J (1986): Complete cDND and derived protein sequence of human apolipoprotein B-100. Nucl Acid Research 14:7501-7503.
8. Krul ES, Parhofer KG, Barrett PHR, Wagner RD, Schonfeld G (1992): ApoB-75, a truncation of apolipoprotein-B associated with familial hypobetalipoproteinemia - genetic and kinetic studies. J Lipid Res 33: 1037-1050.
9. Kwok Pui-Yan, Carlson C, Yager TD, Ankener W, Nickerson DA (1994): Comparative analysis of human DNA variations by fluorescence-based sequencing of PCR-products. Genomics 23:138-144.
10. Linton MF, Farese RV, Young SG (1993): Familial hypobetalipoproteinemia [Review]. J Lipid Res 34:521-541.
11. Mount SM (1932): A catalogue of splice junction sequences. Nucl Acid Research 10:459-472.
12. Orkin SH, Kazazian HH (1984): The mutation and polymorphism of the human β-globin gene and its surrounding DNA. Anu Rev Genet 18: 131-171.
13. Padgett RA, Grabowski PJ, Konarska MM, Seiler S, Sharp PA (1986): Splicing of messenger RNA precursors. [Review]. Ann Rev Biochem 55:1119-1150.
14. Powell LM, Wallis SC, Pease RJ, Edwards YH, Knott TJ, Scott J (1987): A novel form of tissue-specific RNA processing produces apolipoprotein B-48 in intestine. Cell 50:831-840.
15. Pulai JI, Averna M, Srivastava RA, Latour MA, Clouse RE, Ostlund RE, Schonfeld G (1997): Normal intetinal dietary fat and cholesterol absorption, intestinal apolipoprotein B (apoB) mRNA levels, and apoB-48 syntheses in a hypobetalipoproteinemic kindred without any truncation. Metabolism 46:1095-1100.
16. Pulai JI, Neuman RJ, Groenewegen WA, Wu J, Schonfeld G (1998): Genetic heterogeneity in familial hypobetalipoproteinemia: Linkage and non-linkage to the ApoB gene in Caucasian FHBL families. Am J Med Genet 76:79-86.
17. Treisman R, Proudfoot NJ, Shander M, Maniatis I (1982): A single base change at a splice site in the β°-thalassemic gene causes abnormal RNA splicing. Cell 29:903-911.