A complex splicing defect associated with homozygous ankyrin-deficient hereditary spherocytosis

Blood

Volumn 109, Issue 12, 2007, Pages 5491-5493

  Edelman, E Jennifer ^a   Maksimova, Yelena ^a   Duru, Feride ^b   Altay, Cigdem ^c   Gallagher, Patrick G ^a  

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b ONDOKUZ MAYIS UNIVERSITY   (Turkey)

^c HACETTEPE UNIVERSITY   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

ANKYRIN;

ARTICLE; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; ECONOMIC ASPECT; GENE MUTATION; HEREDITARY SPHEROCYTOSIS; HOMOZYGOSITY; HUMAN; HUMAN CELL; LIFE; PRIORITY JOURNAL; SENSITIVITY ANALYSIS;

EID: 34250013141     PISSN: 00064971     EISSN: 00064971     Source Type: Journal    
DOI: 10.1182/blood-2006-09-046573     Document Type: Article

References (23)

1. Eber S, Lux SE. Hereditary spherocytosis: defects in proteins that connect the membrane skeleton to the lipid bilayer. Semin Hematol. 2004;41:118-141.
2. Eber SW, Gonzalez JM, Lux ML, et al. Ankyrin-1 mutations are a major cause of dominant and recessive hereditary spherocytosis. Nat Genet. 1996;13:214-218.
3. Gallagher PG. Hematologically important mutations: ankyrin variants in hereditary spherocytosis. Blood Cells Mol Dis. 2005;35:345-347.
4. Duru F, Gurgey A, Ozturk G, Yorukan S, Altay C. Homozygosity for dominant form of hereditary spherocytosis. Br J Haematol. 1992;82:596-600.
5. Michaely P, Bennett V. The ANK repeats of erythrocyte ankyrin form two distinct but cooperative binding sites for the erythrocyte anion exchanger. J Biol Chem. 1995;270:22050-22057.
6. Michaely P, Bennett V. Mechanism for binding site diversity on ankyrin. J Biol Chem. 1995;270:31298-31302.
7. Michaely P, Tomchick DR, Machius M, Anderson RGW. Crystal structure of a 12 ANK repeat stack from human ankyrinR. EMBO J. 2002;21:6387-6396.
8. O'Neill JP, Rogan PK, Cariello N, Nicklas JA. Splice mutations that alter RNA splicing of the human HPRT gene: a review of the spectrum. Mutat Res. 1998;411:179-214.
9. Krawczak M, Thomas NS, Hundrieser B, et al. Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicing. Hum Mutat. 2007;28:150-158.
10. Baralle D, Baralle M. Splicing in action: assessing disease causing sequence changes. J Med Genet. 2005;42:737-748.
11. Cooper TA. Use of minigene systems to dissect alternative splicing elements. Methods. 2005;37:331-340.
12. Bennett V. Of mice and men: the mice were right. J Clin Invest. 1995;95:921-922.
13. Yi SJ, Liu SC, Derick LH, et al. Red cell membranes of ankyrin-deficient nb/nb mice lack band 3 tetramers but contain normal membrane skeletons. Biochemistry. 1997;36:9596-9604.
14. Schwarze U, Starman BJ, Byers PH. Redefinition of exon 7 in the COL1A1 gene of type I collagen by an intron 8 splice-donor-site mutation in a form of osteogenesis imperfecta: influence of intron splice order on outcome of splice-site mutation. Am J Hum Genet. 1999;65:336-344.
15. Takahara K, Schwarze U, Imamura Y, et al. Order of intron removal influences multiple splice outcomes, including a two-exon skip, in a COL5A1 acceptor-site mutation that results in abnormal proalpha1(V) N-propeptides and Ehlers-Danlos syndrome type I. Am J Hum Genet. 2002;71:451-465.
16. Black DL. A simple answer for a splicing conundrum. Proc Natl Acad Sci U S A. 2005;102:4927-4928.
17. Fackenthal DL, Chen PX, Das S. Denaturing high-performance liquid chromatography for mutation detection and genotyping. Methods Mol Biol. 2005;311:73-96.
18. Choy YS, Dabora SL, Hall F, et al. Superiority of denaturing high performance liquid chromatography over single-stranded conformation and conformation-sensitive gel electrophoresis for mutation detection in TSC2. Ann Hum Genet. 1999;63:383-391.
19. Gross E, Arnold N, Goette J, Schwarz-Boeger U, Kiechle M. A comparison of BRCA1 mutation analysis by direct sequencing, SSCP and DH-PLC. Hum Genet. 1999;105:72-78.
20. Deng D, Deng G, Smith MF, et al. Simultaneous detection of CpG methylation and single nucleotide polymorphism by denaturing high performance liquid chromatography. Nucleic Acids Res. 2002;30:E13.
21. Emmerson P, Maynard J, Jones S, Butler R, Sampson JR, Cheadle JP. Characterizing mutations in samples with low-level mosaicism by collection and analysis of DHPLC fractionated heteroduplexes. Hum Mutat. 2003;21:112-115.
22. Escary JL, Cecillon M, Maciazek J, Lathrop M, Tournier-Lasserve E, Joutel A. Evaluation of DHPLC analysis in mutational scanning of Notch3, a gene with a high G-C content. Hum Mutat. 2000;16:518-526.
23. Zhang DX, Hewitt GM. Taq cycle sequencing is more sensitive to DNA base bias. Biotechniques. 1994;16:573-576.