HPRT: gene structure, expression, and mutation.

INTRODUCTION AND PERSPECTIVES ....................................................... 127 NORMAL ENZYME FUNCTION AND CHARACTERISTICS ............................. 129 Enzymology ........................................................................................ 129 Tissue Distribution ................................................................................ 130 HPRT Gene Structure ............................................................................ 130 HPRT Gene Expression .......................................................................... 132 Pathogenesis of HPRT Deficiency ............................................................. 136 MUTATIONS AT THE HPRT LOCUS ........................................................... 137 Mutations in Cultured Cells ..................................................................... 137 Mutations in Man ................................................................................. 139 GENE TRANSFER AND THERAPEUTIC PROSPECTS ..................................... 142