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首页> 外文期刊>Psychiatric genetics >Lack of exonic sulfotransferase 4A1 mutations in controls and schizophrenia cases.
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Lack of exonic sulfotransferase 4A1 mutations in controls and schizophrenia cases.

机译：在对照和精神分裂症病例中缺乏外显子硫转移酶4A1突变。

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摘要

Sulfotransferase 4A1 (SULT4A1) is a novel sulfotransferase expressed almost exclusively in the brain. The gene is located on chromosome 22q13.3, a region implicated in predisposition to schizophrenia. Recently, a variable microsatellite region located upstream of SULT4A1 was found to be associated with an increase in schizophrenia risk. We hypothesised that if functional dysregulation of SULT4A1 was involved in the aetiology of schizophrenia, then genetic variants in the coding sequence of SULT4A1 might be identified in cases compared with controls. To test this, we carried out a mutation analysis of the coding region (exons 2-7) in 71 Australian schizophrenia cases and 69 controls. We found no mutations, either synonymous or nonsynonymous, in either cohort. However, intronic variants (IVS5+12 C>T and IVS5+28 G>C) were identified, the frequency of which was not statistically different between cases and controls. The lack of polymorphisms in the coding region of the SULT4A1 gene is highly unusual and, along with its high conservation between species, suggests that SULT4A1 may have an important function in vivo. However, our findings do not support the hypothesis that germline mutations in the coding region of SULT4A1 contribute to susceptibility to schizophrenia.
机译：磺基转移酶4A1（SULT4A1）是一种新型的磺基转移酶，几乎只在大脑中表达。该基因位于染色体22q13.3上，该区域与精神分裂症的易感性有关。最近，发现位于SULT4A1上游的可变微卫星区域与精神分裂症风险的增加有关。我们假设，如果精神分裂症的病因涉及SULT4A1的功能失调，那么与对照组相比，可能会在SULT4A1编码序列中发现遗传变异。为了测试这一点，我们对71例澳大利亚精神分裂症病例和69例对照患者的编码区（第2-7外显子）进行了突变分析。我们在两个队列中均未发现同义或非同义突变。但是，鉴定出内含子变体（IVS5 + 12 C> T和IVS5 + 28 G> C），病例和对照之间的频率无统计学差异。 SULT4A1基因编码区中缺​​乏多态性是非常不寻常的，并且其在物种之间的高度保守性表明SULT4A1在体内可能具有重要的功能。但是，我们的发现不支持SULT4A1编码区的种系突变有助于精神分裂症的假说。

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