摘要翻译：
我们研究基因表达的简单数学模型，以探索单倍体不足(HI)的可能起源。在二倍体生物中，每个基因存在于两个拷贝中，当其中一个发生突变时，合成的蛋白质数量就会减少，并可能低于某种期望活性开始的阈值水平。这会引起HI，其表现形式是疾病。我们考虑了基因表达的确定性和随机性模型，并提出了在这两种情况下发生HI的可能情况。在随机情况下，平均蛋白质水平周围的随机波动导致蛋白质水平低于阈值的有限概率。增加的基因拷贝数和更快的基因表达动力学减少了在平均蛋白水平附近的方差。慢基因表达动力学和快基因表达动力学之间的差异，关于对信号梯度的响应，进一步指出。文中报道的大多数结果都是通过分析推导出来的。
---
英文标题：
《Mathematical models of haploinsufficiency》
---
作者：
Indrani Bose and Rajesh Karmakar
---
最新提交年份：
2003
---
分类信息：

一级分类：Quantitative Biology        数量生物学
二级分类：Other Quantitative Biology        其他定量生物学
分类描述：Work in quantitative biology that does not fit into the other q-bio classifications
不适合其他q-bio分类的定量生物学工作
--
一级分类：Physics        物理学
二级分类：Statistical Mechanics        统计力学
分类描述：Phase transitions, thermodynamics, field theory, non-equilibrium phenomena, renormalization group and scaling, integrable models, turbulence
相变，热力学，场论，非平衡现象，重整化群和标度，可积模型，湍流
--
一级分类：Quantitative Biology        数量生物学
二级分类：Quantitative Methods        定量方法
分类描述：All experimental, numerical, statistical and mathematical contributions of value to biology
对生物学价值的所有实验、数值、统计和数学贡献
--

---
英文摘要：
  We study simple mathematical models of gene expression to explore the possible origins of haploinsufficiency (HI). In a diploid organism, each gene exists in two copies and when one of these is mutated, the amount of proteins synthesized is reduced and may fall below a threshold level for the onset of some desired activity. This can give rise to HI, a manifestation of which is in the form of a disease. We consider both deterministic and stochastic models of gene expression and suggest possible scenarios for the occurrence of HI in the two cases. In the stochastic case, random fluctuations around the mean protein level give rise to a finite probability that the protein level falls below a threshold. Increased gene copy number and faster gene expression kinetics reduce the variance around the mean protein level. The difference between slow and fast gene expression kinetics, as regards response to a signaling gradient, is further pointed out. The majority of results reported in the paper are derived analytically.
---
PDF链接：
https://arxiv.org/pdf/q-bio/0311001