• 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Pigment cell research >A polymorphism in the agouti signalling protein (ASIP) is associated with decreased levels of mRNA
【24h】

A polymorphism in the agouti signalling protein (ASIP) is associated with decreased levels of mRNA

机译：刺豚鼠信号蛋白（ASIP）中的多态性与降低的mRNA水平相关

获取原文
获取原文并翻译 | 示例
       
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

To date, a role for agouti signalling protein (ASIP) in human pigmentation has not been well characterized. It is known that agouti plays a pivotal role in the pigment switch from the dark eumelanin to the light pheomelanin in the mouse. However, because humans do not have an agouti banded hair pattern, its role in human pigmentation has been questioned. We previously identified a single polymorphism in the 3'-untranslated region (UTR) of ASIP that was found at a higher frequency in African-Americans compared with other population groups. To compare allele frequencies between European-Australians and indigenous Australians, the g.8818A -> G polymorphism was genotyped. Significant differences were seen in allele frequencies between these groups (P < 0.0001) with carriage of the G allele highest in Australian Aborigines. In the Caucasian sample set a strong association was observed between the G allele and dark hair colour (P = 0.004) (odds ratio 4.6; 95% CI 1.4-15.27). The functional consequences of this polymorphism are not known but it was postulated that it might result in message instability and premature degradation of the transcript. To test this hypothesis, ASIP mRNA levels were quantified in melanocytes carrying the variant and non-variant alleles. Using quantitative real-time polymerase chain reaction the mean ASIP mRNA ratio of the AA genotype to the AG genotype was 12 (P < 0.05). This study suggests that the 3'-UTR polymorphism results in decreased levels of ASIP and therefore less pheomelanin production.
机译：迄今为止，刺痛信号蛋白（ASIP）在人类色素沉着中的作用尚未得到很好的表征。众所周知，在小鼠中，刺豚鼠在色素从深金黑色素向浅色浅蓝素的转换中起着关键作用。但是，由于人类没有刺豚鼠的带状发质，因此其在人类色素沉着中的作用受到质疑。我们先前在ASIP的3'-非翻译区（UTR）中发现了一个单态性，与其他人群相比，在非裔美国人中发现这种频率更高。为了比较欧洲澳大利亚人和澳大利亚土著人之间的等位基因频率，对g.8818A-> G多态性进行了基因分型。这些组之间的等位基因频率之间存在显着差异（P <0.0001），其中G等位基因的携带在澳大利亚原住民中最高。在高加索人样本中，观察到G等位基因与黑发颜色之间有很强的关联性（P = 0.004）（奇数比为4.6; 95％CI为1.4-15.27）。这种多态性的功能后果尚不清楚，但据推测可能导致消息不稳定和转录本过早降解。为了验证这一假设，对携带变异和非变异等位基因的黑素细胞中的ASIP mRNA水平进行了定量。使用实时定量聚合酶链反应，AA基因型与AG基因型的平均ASIP mRNA比为12（P <0.05）。这项研究表明3'-UTR多态性导致ASIP含量降低，因此苯丙氨酸甲酯的生成减少。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
获取原文

客服邮箱：kefu@zhangqiaokeyan.com

京公网安备：11010802029741号 ICP备案号：京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有

  • 客服微信

  • 服务号