PRTFDC1 is a genetic modifier of HPRT-deficiency in the mouse.
PRTFDC1 is a genetic modifier of HPRT-deficiency in the mouse.
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DOI：
10.1371/journal.pone.0022381
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发表时间：
2011
期刊：
影响因子：
3.7
通讯作者：
Thomas JW
中科院分区：
文献类型：
--
作者：
Keebaugh AC;Mitchell HA;Gaval-Cruz M;Freeman KG;Edwards GL;Weinshenker D;Thomas JW
Lesch-Nyhan disease (LND) is a severe X-linked neurological disorder caused by a deficiency of hypoxanthine phosphoribosyltransferase (HPRT). In contrast, HPRT-deficiency in the mouse does not result in the profound phenotypes such as self-injurious behavior observed in humans, and the genetic basis for this phenotypic disparity between HPRT-deficient humans and mice is unknown. To test the hypothesis that HPRT deficiency is modified by the presence/absence of phosphoribosyltransferase domain containing 1 (PRTFDC1), a paralog of HPRT that is a functional gene in humans but an inactivated pseudogene in mice, we created transgenic mice that express human PRTFDC1 in wild-type and HPRT-deficient backgrounds. Male mice expressing PRTFDC1 on either genetic background were viable and fertile. However, the presence of PRTFDC1 in the HPRT-deficient, but not wild-type mice, increased aggression as well as sensitivity to a specific amphetamine-induced stereotypy, both of which are reminiscent of the increased aggressive and self-injurious behavior exhibited by patients with LND. These results demonstrate that PRTFDC1 is a genetic modifier of HPRT-deficiency in the mouse and could therefore have important implications for unraveling the molecular etiology of LND.
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影响因子：
5.7
作者：
Tomchick, DR;Turner, RJ;Smith, JL
通讯作者：
Smith, JL
影响因子：
6.1
作者：
Cai, Li-yi;Abe, Masanobu;Ushijima, Toshikazu
通讯作者：
Ushijima, Toshikazu
影响因子：
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作者：
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Jinnah, HA
DOI：
10.1073/pnas.0702753104
发表时间：
2007-08-21
影响因子：
11.1
作者：
Rommelfanger, K. S.;Edwards, G. L.;Weinshenker, D.
通讯作者：
Weinshenker, D.
影响因子：
64.8
作者：
Rual, JF;Venkatesan, K;Vidal, M
通讯作者：
Vidal, M