Transition mutations at CpG dinucleotides are the most frequent in vivo spontaneous single-base substitution mutation in the human HPRT gene

Environmental and Molecular Mutagenesis

Volumn 32, Issue 2, 1998, Pages 188-191

  O'Neill, J Patrick ^a,b   Finette, Barry A ^b  

^a UNIVERSITY OF VERMONT COLLEGE OF MEDICINE   (United States)

^b UNIVERSITY OF VERMONT   (United States)

Author keywords

CpG dinucleotides; HPRT mutation; Human cells; Lesch Nyhan syndrome; Newborns

Indexed keywords

DINUCLEOTIDE; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE;

ALLELE; AMINO ACID SEQUENCE; ARTICLE; DNA SEQUENCE; ENZYME ACTIVITY; GENE MUTATION; HUMAN; HUMAN CELL; LESCH NYHAN SYNDROME; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; SOMATIC CELL;

5-METHYLCYTOSINE; ADULT; CHILD; CPG ISLANDS; CYTOSINE; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; INFANT, NEWBORN; LESCH-NYHAN SYNDROME; MALE; POINT MUTATION;

EID: 0031668970     PISSN: 08936692     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-2280(1998)32:2<188::AID-EM16>3.0.CO;2-Y     Document Type: Article

References (15)

1. Alford RL, Redman JB, O'Brien WE, Caskey CT (1995): Lesch-Nyhan syndrome: Carrier and prenatal diagnosis. Prenat Diagn 15:329-338.
2. Cariello NF (1997): "Release 6 of the HPRT Database." Mutabase Software, Durham, NC.
3. Cooper DN, Krawczak M (1990): The mutational spectrum of single base pair substitutions causing human genetic disease: Patterns and predictions. Hum Genet 85:55-74.
4. Finette BA, Sullivan LM, O'Neill, JP, Nicklas JA, Vacek PM, Albertini RJ (1994): Determination of HPRT mutant frequencies in T-lymphocytes from a healthy pediatric population: Statistical comparison between newborn, children and adult mutant frequencies, cloning efficiency and age. Mutat Res 308:223-231.
5. Fujimori S, Tagaya T, Yamaoka N, Saito H, Kamatani N, Akaoka I (1995): Direct evidence for a hot spot of germ line mutation at HPRT locus. In: Sakota A, Taylor A (eds): "Purine and Pyrimidine Metabolism in Man VIII." New York: Plenum Press, pp 679-682.
6. Green MHL, O'Neill JP, Cole J (1995): Suggestions concerning the relationship between mutant frequency and mutation rate at the HPRT locus in human peripheral T-lymphocytes. Mutat Res 334:323-339.
7. Hunter TC, Melancon SB, Dallaire L, Taft S, Skopek TR, Albertini RJ, O'Neill JP (1996): Germinal HPRT splice donor site mutation results in multiple RNA splicing products in T-lymphocyte cultures. Somat Cell Mol Genet 22(2):145-150.
8. Kricker MC, Drake DW, Radman M (1992): Duplication-targeted DNA methylation and mutagenesis in the evolution of eukaryotic chromosomes. Proc Natl Acad Sci USA 89:1075-1079.
9. Lambert B, Marcus S, Anderson B, Hou S-M, Steen AM, Hellgren D (1992): Missense mutations and evolutionary conserved amino acids at the human HPRT locus. Pharmacogenetics 2:329-336.
10. Rideout WM, Coetzee GA, Oleimi AF, Jones PA (1990): 5-Methylcytosine as an endogenous mutagen in the human LDL receptor and p53 gene. Science 249:1288-1290.
11. Robinson DR, Goodall K, Albertini RJ, O'Neill JP, Finette B, SalaTrepat M, Moustacchi E, Tates AD, Beare DM, Green MHL, Cole J (1994): An analysis of in vivo HPRT mutant frequency in circulating T-lymphocytes in the normal human population: A comparison of four datasets. Mutat Res 313:227-247.
12. Schmutte C, Yang AS, Beart RW, Jones PA (1995): Base excision repair of U:G mismatches at a mutational hotspot in the p53 gene is more efficient than base excision repair of T:G mismatches in extracts of human colon tumors. Cancer Res 55:3742-3746.
13. Sculley DG, Dawson PA, Emmerson BT, Gordon RB (1992): A review of the molecular basis of hypoxanthine-guanine phosphoribosyl-transferase (HPRT) deficiency. Hum Genet 90:195-207.
14. Sege-Peterson K, Chambers J, Page T, Jones OW, Nyhan WL (1992): Characterization of mutations in phenotypic variants of hypoxanthine phosphoribosyltransferase deficiency. Hum Mol Genet 1(6):427-432.
15. Montreal) by use of T-lymphocyte cultures. Hum Genet 85:111-116.