SYN III的DNA甲基化与mRNA表达，SYN III是精神分裂症的一个候选基因。
DNA methylation and mRNA expression of SYN III, a candidate gene for schizophrenia.
作者信息
Murphy Brenda C, O'Reilly Richard L, Singh Shiva M
机构信息
Molecular Genetics Unit, Department of Biology and Division of Medical Genetics, The University of Western Ontario, London, Ontario N6A 5B7, Canada.
出版信息
BMC Med Genet. 2008 Dec 22;9:115. doi: 10.1186/1471-2350-9-115.
BACKGROUND
The synapsin III (SYN III) gene on chromosome 22q is a candidate gene for schizophrenia susceptibility due to its chromosome location, neurological function, expression patterns and functional polymorphisms.
METHODS
This research has established the mRNA expression of SYN III in 22 adult human brain regions as well as the methylation specificity in the closest CpG island of this gene. The methylation specificity studied in 31 brain regions (from a single individual) was also assessed in 51 human blood samples (representing 20 people affected with schizophrenia and 31 normal controls) including a pair of monozygotic twin discordant for schizophrenia and 2 non-human primates.
RESULTS
The results show that the cytosine methylation in this genomic region is 1) restricted to cytosines in CpG dinucleotides 2) similar in brain regions and blood and 3) appears conserved in primate evolution. Two cytosines (cytosine 8 and 20) localized as the CpG dinucleotide are partially methylated in all brain regions studied. The methylation of these sites in schizophrenia and control blood samples was variable. While cytosine 8 was partially methylated in all samples, the distribution of partial to complete methylation at the cytosine 20 was 22:9 in controls as compared to 18:2 in schizophrenia (p = 0.82). Also, there is no difference in methylation between the affected and unaffected member of a monozygotic twin pair.
CONCLUSION
The variation in SYN III methylation studied is 1) not related to schizophrenia in the population sample or a monozygotic twin pair discordant for schizophrenia and 2) not related to the mRNA level of SYN IIIa in different human brain regions.
背景
22号染色体q上的突触素III（SYN III）基因因其染色体定位、神经功能、表达模式和功能多态性，是精神分裂症易感性的候选基因。
方法
本研究确定了SYN III在22个成人大脑区域中的mRNA表达，以及该基因最接近的CpG岛中的甲基化特异性。在31个脑区（来自单个个体）中研究的甲基化特异性，也在51份人类血液样本（代表20名精神分裂症患者和31名正常对照）中进行了评估，包括一对精神分裂症不一致的同卵双胞胎和2只非人类灵长类动物。
结果
结果表明，该基因组区域中的胞嘧啶甲基化：1）仅限于CpG二核苷酸中的胞嘧啶；2）在脑区和血液中相似；3）在灵长类进化中似乎是保守的。作为CpG二核苷酸定位的两个胞嘧啶（胞嘧啶8和20）在所有研究的脑区中部分甲基化。这些位点在精神分裂症和对照血液样本中的甲基化是可变的。虽然胞嘧啶8在所有样本中部分甲基化，但胞嘧啶20处部分甲基化到完全甲基化的分布在对照组中为22:9，而在精神分裂症组中为18:2（p = 0.82）。此外，同卵双胞胎对中受影响和未受影响成员之间的甲基化没有差异。
结论
所研究的SYN III甲基化变化：1）与群体样本中的精神分裂症或精神分裂症不一致的同卵双胞胎对无关；2）与不同人类脑区中SYN IIIa的mRNA水平无关。
Zotero 插件