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首页> 外文期刊>Journal of Molecular Evolution >SSADH variation in primates: Intra- and interspecific data on a gene with a potential role in human cognitive functions
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SSADH variation in primates: Intra- and interspecific data on a gene with a potential role in human cognitive functions

机译：灵长类动物中SSADH的变异：关于一种基因的种内和种间数据，其可能在人类认知功能中发挥作用

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In the present study we focus on the nucleotide and the inferred amino acid variation occurring in humans and other primate species for mitochondrial NAD(+)-dependent succinic semialdehyde dehydrogenase, a gene recently supposed to contribute to cognitive performance in humans. We determined 2527 bp of coding, intronic, and flanking sequences from chimpanzee, bonobo, gorilla, orangutan, gibbon, and macaque. We also resequenced the entire coding sequence on 39 independent chromosomes from Italian families. Four variable coding sites were genotyped in additional populations from Europe, Africa, and Asia. A test for constancy of the nonsynonymous vs. synonymous rates of nucleotide changes revealed that primates are characterized by largely variable d(N)/d(S) ratios. On a background of strong conservation, probably controlled by selective constraints, the lineage leading to humans showed a ratio increased to 0.42. Human polymorphic levels fall in the range reported for other genes, with a pattern of frequency and haplotype structure strongly suggestive of nonneutrality. The comparison with the primate sequences allowed inferring the ancestral state at all variable positions, suggesting that the c.538(C) allele and the associated functional variant is indeed a derived state that is proceeding to fixation. The unexpected pattern of human polymorphism compared to interspecific findings outlines the possibility of a recent positive selection on some variants relevant to new cognitive capabilities unique to humans.
机译：在本研究中，我们重点研究线粒体NAD（+）依赖性琥珀酸半醛脱氢酶（一种最近被认为有助于人类认知表现的基因）在人和其他灵长类动物中发生的核苷酸和推测的氨基酸变异。我们从黑猩猩，bo黑猩猩，大猩猩，猩猩，长臂猿和猕猴中确定了2527 bp的编码，内含子和侧翼序列。我们还对来自意大利家庭的39条独立染色体上的整个编码序列进行了重新测序。在来自欧洲，非洲和亚洲的其他人群中对四个可变编码位点进行了基因分型。对核苷酸变化的非同义与同义速率的恒定性进行的测试表明，灵长类动物的特征在于d（N）/ d（S）比率的变化很大。在强烈的保护（可能受选择性约束控制）的背景下，导致人类的血统显示该比率增加到0.42。人类多态性水平落在其他基因报道的范围内，频率和单倍型结构的模式强烈暗示了非中性。与灵长类序列的比较允许推断所有可变位置的祖先状态，这表明c.538（C）等位基因和相关的功能变体确实是一种着眼于固定的衍生状态。与种间发现相比，人类多态性的出乎意料的模式概述了对与人类独有的新认知能力有关的一些变异最近进行积极选择的可能性。

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