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Titolo:
HPRT mutations in humans: biomarkers for mechanistic studies
Autore:
Albertini, RJ;
Indirizzi:
Univ Vermont, Genet Toxicol Lab, Burlington, VT 05401 USA Univ Vermont Burlington VT USA 05401 oxicol Lab, Burlington, VT 05401 USA
Titolo Testata:
MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH
fascicolo: 1, volume: 489, anno: 2001,
pagine: 1 - 16
SICI:
1383-5742(200110)489:1<1:HMIHBF>2.0.ZU;2-0
Fonte:
ISI
Lingua:
ENG
Soggetto:
HUMAN LYMPHOCYTES-T; HYPOXANTHINE-GUANINE PHOSPHORIBOSYLTRANSFERASE; RECOMBINASE-MEDIATED DELETION; LESCH-NYHAN SYNDROME; MULTIPLE-SCLEROSIS; V(D)J RECOMBINASE; PERIPHERAL-BLOOD; MOLECULAR ANALYSES; MUTANT FREQUENCY; 6-THIOGUANINE-RESISTANT LYMPHOCYTES;
Keywords:
HPRT mutations; biomarker; humans; genomic instability; Lesch-Nyhan syndrome;
Tipo documento:
Review
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
103
Recensione:
Indirizzi per estratti:
Indirizzo: Albertini, RJ Univ Vermont, Genet Toxicol Lab, 32 N Prospect St, Burlington, VT 05401 USA Univ Vermont 32 N Prospect St Burlington VT USA 05401 01 USA
Citazione:
R.J. Albertini, "HPRT mutations in humans: biomarkers for mechanistic studies", MUT RES-R M, 489(1), 2001, pp. 1-16

Abstract

The X-chromosomal gene for hypoxanthine-guanine phosphoribosyltransferase (HPRT), first recognized through its human germinal mutations, quickly became a useful target for studies of somatic mutations in vitro and in vivo inhumans and animals. In this role, HPRT serves as a simple reporter gene. The in vivo mutational studies have concentrated on peripheral blood lymphocytes, for obvious reasons. In vivo mutations in T cells are now used to monitor humans exposed to environmental mutagens with analyses of molecular mutational spectra serving as adjuncts for determining causation. Studies of the distributions of HPRT mutants among T cell receptor (TCR) gene-defined T cell clones in vivo have revealed an unexpected clonality, suggesting that HPRT mutations may be probes for fundamental cellular and biological processes. Use of HPRT in this way has allowed the analyses of V(D)J recombinase mediated mutations as markers of a mutational process with carcinogenic potential, the use of somatic mutations as surrogate markers for the in vivoT cell proliferation that underlies immunological processes, and the discovery and study of mutator phenotypes in non-malignant T cells. In this lastapplication, the role of HPRT is related to its function, as well as to its utility as a reporter of mutation. Most recently, HPRT is finding use in studies of in vivo selection for in vivo mutations arising in either somatic or germinal cells. (C) 2001 Elsevier Science B.V. All rights reserved.

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Documento generato il 06/04/20 alle ore 01:44:25