A recurrent stop-codon mutation in succinate dehydrogenase subunit B gene in normal peripheral blood and childhood T-cell acute leukemia

PLoS ONE

Volumn 2, Issue 5, 2007, Pages

  Baysal, Bora E ^a,b  

^a UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF PITTSBURGH GRADUATE SCHOOL OF PUBLIC HEALTH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYTIDINE DEAMINASE; GENOMIC DNA; MESSENGER RNA; SUCCINATE DEHYDROGENASE; SUCCINATE DEHYDROGENASE SUBUNIT B; UNCLASSIFIED DRUG; PRIMER DNA;

ACUTE LYMPHOBLASTIC LEUKEMIA; ARTICLE; B LYMPHOCYTE; BONE MARROW; CELL HYPOXIA; CELL TYPE; CHILD; CONTROLLED STUDY; FEMALE; HETEROZYGOTE; HUMAN; HUMAN CELL; LEUKEMIA CELL LINE; LEUKEMOGENESIS; MALE; MISSENSE MUTATION; MONOCYTE; MUTATION RATE; MUTATIONAL ANALYSIS; NATURAL KILLER CELL; PERIPHERAL BLOOD MONONUCLEAR CELL; SEQUENCE ANALYSIS; STOP CODON; T CELL LEUKEMIA; T LYMPHOCYTE; AMINO ACID SEQUENCE; BLOOD; CAPILLARY ELECTROPHORESIS; ENZYMOLOGY; GENETICS; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

MAMMALIA;

AMINO ACID SEQUENCE; BASE SEQUENCE; CHILD; CODON, TERMINATOR; DNA PRIMERS; ELECTROPHORESIS, CAPILLARY; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; PRECURSOR CELL LYMPHOBLASTIC LEUKEMIA-LYMPHOMA; PRECURSOR T-CELL LYMPHOBLASTIC LEUKEMIA-LYMPHOMA; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; SUCCINATE DEHYDROGENASE;

EID: 55849095047     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0000436     Document Type: Article

References (23)

1. Chadwick DJ, Goode J, eds (2006) Signaling pathways in acute oxygen sensing; Novartis Foundation symposium. Hoboken: John Wiley.
2. Baysal BE, Ferrell RE, Wilett-Brozick JE, Lawrence EC, Myssiorek D, et al. (2000) Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. Science 287: 848-851.
3. Bayley JP, Devilee P, Taschner PE (2005) The SDH mutation database: an online resource for succinate dehydrogenase sequence variants involved in pheochromocytoma, paraganglioma and mitochondrial complex II deficiency. BMC Med Genet 6: 39.
4. Dahia PL, Ross KN, Wright ME, Hayashida CY, Santagata S, et al. (2005) A HIF1alpha regulatory loop links hypoxia and mitochondrial signals in pheochromocytomas. PLoS Genet 1: 72-80.
5. Astrom K, Cohen JE, Willett-Brozick JE, Aston CE, Baysal BE (2003) Altitude is a phenotypic modifier in hereditary paraganglioma type 1: evidence for an oxygen-sensing defect. Hum Genet 113: 228-237.
6. Piruat JI, Pintado CO, Ortega-Saenz P, Roche M, Lopez-Barneo J (2004) The mitochondrial SDHD gene is required for early embryogenesis, and its partial deficiency results in persistent carotid body glomus cell activation with full responsiveness to hypoxia. Mol Cell Biol 24: 10933-10940.
7. Slane BG, Aykin-Burns N, Smith BJ, Kalen AL, Goswami PC, et al. (2006) Mutation of succinate dehydrogenase subunit C results in increased O2.-, oxidative stress, and genomic instability. Cancer Res 66: 7615-7620.
8. Gottlieb E, Tomlinson IP (2005) Mitochondrial tumour suppressors: a genetic and biochemical update. Nat Rev Cancer 5: 857-866.
9. Baysal BE (2005) Krebs cycle enzymes as tumor suppressors. Drug Discovery Today: Disease Mechanisms 2: 247-254.
10. Ling PD, Huls HM (2005) Isolation and Immortalization of Lymphocytes. In: Current Protocols in Molecular Biology Ausubel FM, Brent R, Kingston RE, Moore DD, Seidman JG, Smith JA, Struhl K, eds. New Jersey: John Wiley & Sons. pp 28.2.2-28.2.5.
11. Gabay C, Ben Bassat H, Schlesinger M, Laskov R (1999) Somatic mutations and intraclonal variations in the rearranged Vkappa genes of B-non-Hodgkin's lymphoma cell lines. Eur J Haematol 63: 180-191.
12. Baysal BE, Willett-Brozick JE, Lawrence EC, Drovdlic CM, Savul SA, et al. (2002) Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas. J Med Genet 39: 178-183.
13. Uejima H, Lee MP, Cui H, Feinberg AP (2000) Hot-stop PCR: a simple and general assay for linear quantitation of allele ratios. Nat Genet 25: 375-376.
14. Arezi B, Hogrefe HH (2007) Escherichia coli DNA polymerase III epsilon subunit increases Moloney murine leukemia virus reverse transcriptase fidelity and accuracy of RT-PCR procedures. Anal Biochem 360: 84-91.
15. Albertini RJ, Nicklas JA, O'Neill JP, Robison SH (1990) In vivo somatic mutations in humans: measurement and analysis. Annu Rev Genet 24: 305-326.
16. Mukhopadhyay D, Anant S, Lee RM, Kennedy S, Viskochil D, et al. (2002) C→U editing of neurofibromatosis 1 mRNA occurs in tumors that express both the type II transcript and apobec-1, the catalytic subunit of the apolipoprotein B mRNA-editing enzyme. Am J Hum Genet 70: 38-50.
17. Honjo T, Kinoshita K, Muramatsu M (2002) Molecular mechanism of class switch recombination: linkage with somatic hypermutation. Annu Rev Immunol 20: 165-196.
18. Wedekind JE, Dance GS, Sowden MP, Smith HC (2003) Messenger RNA editing in mammals: new members of the APOBEC family seeking roles in the family business. Trends Genet 19: 207-216.
19. Neuberger MS, Rada C (2007) Somatic hypermutation: activation-induced deaminase for C/G followed by polymerase eta for A/T. J Exp Med 204: 7-10.
20. Amrani N, Sachs MS, Jacobson A (2006) Early nonsense: mRNA decay solves a translational problem. Nat Rev Mol Cell Biol 7: 415-425.
21. Baysal BE, Lawrence EC, Ferrell RE (2007) Sequence variation in human succinate dehydrogenase genes: evidence for long-term balancing selection on SDHA. BMC Biol 5: 12.
22. Murdoch C, Giannoudis A, Lewis CE (2004) Mechanisms regulating the recruitment of macrophages into hypoxic areas of tumors and other ischemic tissues. Blood 104: 2224-2234.
23. Stenmark KR, Davie NJ, Reeves JT, Frid MG (2005) Hypoxia, leukocytes, and the pulmonary circulation. J Appl Physiol 98: 715-721.