作者: THEODORE FRIEDMANN , J. EDWIN SEEGMILLER , JOHN H. SUBAK-SHARPE
DOI: 10.1038/220272A0
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摘要: GENETIC variants of several mammalian cell lines which are not able to incorporate preformed purine or nucleoside into the cell's nucleic acids have been known for some time. In these a lack activity enzyme inosinic pyrophosphorylase (IPP), also called hypoxanthine-guanine phosphoribosyltransferase (PRT) (EC 2.4.2.8), has demonstrated1–4. This catalyses conversions both hypoxanthine acid and guanine guanylic acid, constitutes an essential part one “salvage” pathways. Seegmiller his colleagues5 recently shown that severe sex-linked neurological disease humans as Lesch–Nyhan syndrome is associated with virtual complete absence this from brain all other tissues examined6.