Sculley D G, Dawson P A, Emmerson B T, Gordon R B
Department of Medicine, Princess Alexandra Hospital, University of Queensland, Australia.
Hum Genet. 1992 Nov;90(3):195-207. doi: 10.1007/BF00220062.
Hypoxanthine-guanine phosphoribosyltransferase (HPRT, EC 2.4.2.8) is a purine salvage enzyme that catalyses the conversion of hypoxanthine and guanine to their respective mononucleotides. Partial deficiency of this enzyme can result in the overproduction of uric acid leading to a severe form of gout, whilst a virtual absence of HPRT activity causes the Lesch-Nyhan syndrome which is characterised by hyperuricaemia, mental retardation, choreoathetosis and compulsive self-mutilation. The HPRT-encoding gene is located on the X chromosome in the region q26-q27 and consists of nine exons and eight introns totalling 57 kb. This gene is transcribed to produce an mRNA of 1.6 kb, which contains a protein encoding region of 654 nucleotides. With the advent of increasingly refined techniques of molecular biology, it has been possible to study the HPRT gene of individuals with a deficiency in HPRT activity to determine the genetic basis of the enzyme deficiency. Many different mutations throughout the coding region have been described, but in the absence of precise information on the three-dimensional structure of the HPRT protein, it remains difficult to determine any consistent correlation between the structure and function of the enzyme.
次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶（HPRT，EC 2.4.2.8）是一种嘌呤补救酶，催化次黄嘌呤和鸟嘌呤转化为各自的单核苷酸。该酶的部分缺乏可导致尿酸过度产生，引发严重形式的痛风，而几乎完全缺乏HPRT活性则会导致莱施 - 奈恩综合征，其特征为高尿酸血症、智力迟钝、舞蹈手足徐动症和强迫性自残。HPRT编码基因位于X染色体的q26 - q27区域，由9个外显子和8个内含子组成，总长57 kb。该基因转录产生1.6 kb的mRNA，其中包含一个654个核苷酸的蛋白质编码区域。随着分子生物学技术日益精细，已经能够研究HPRT活性缺乏个体的HPRT基因，以确定该酶缺乏的遗传基础。整个编码区域已描述了许多不同的突变，但由于缺乏关于HPRT蛋白三维结构的确切信息，仍然难以确定该酶结构与功能之间的任何一致相关性。
