A 13 base pair deletion in exon 1 of HPRTIllinois forms a functional GUG initiation codon.
A 13 base pair deletion in exon 1 of HPRTIllinois forms a functional GUG initiation codon.
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HPRTIllinois 外显子 1 中的 13 个碱基对缺失形成功能性 GUG 起始密码子。
DOI：
10.1007/bf00212027
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发表时间：
1994
期刊：
影响因子：
5.3
通讯作者：
Roessler,BJ
中科院分区：
文献类型：
--
作者：
Davidson,BL;Golovoy,N;Roessler,BJ
在人类次黄嘌呤-鸟嘌呤磷酸核糖转移酶（HPRT）基因座中已经描述了50多个突变，但只有2个改变AUG起始密码子。一种是HPRT 1151变体，导致Lesch-Nyhan综合征（LNS），另一种是HPRT 1151变体，导致部分HPRT缺陷。虽然以前无法检测到，我们使用了一个敏感的凝胶试验，以证明HPRTIII不仅是活跃的，但有一个天然的先生与正常无法区分。在用含有代表HPRTI 1的cDNA序列的表达质粒转染HPRT细胞后，证实了活性和天然Mr的确证性证据。这些数据为以下假设提供了支持，即患者RT或变体HPRTIII是由于在新形成的GUG起始密码子处的翻译而免于LNS的表现。
More than 50 mutations in the human hypoxanthine-guanine phosphoribosyltransferase (HPRT) locus have been described, yet only 2 alter the AUG initiation codon. One, variant HPRT1151, results in Lesch-Nyhan syndrome (LNS), and the other, HPRTIllinois, results in partial HPRT deficiency. Although previously undetectable, we used a sensitive gel assay to demonstrate that HPRTIllinoisis not only active, but has a native Mr indistinguishable from normal. Confirmatory evidence of activity and native Mr is demonstrated following transfection of HPRT cells with expression plasmids containing cDNA sequences representing HPRTIllinois. These data provide support for the hypothesis that patient RT, or variant HPRTIllinois, is spared manifestations of the LNS as a result of translation at the newly formed GUG initiation codon.