Pierre and Marie Curie University (UPMC, Paris 6) and Medical School, Paris, France.
Genomics. 2011 Nov;98(5):320-6. doi: 10.1016/j.ygeno.2011.06.009. Epub 2011 Jul 6.
In humans, the fraction of X-linked genes with higher expression in females has been estimated to be 5% from microarray studies, a proportion lower than the 25% of genes thought to escape X inactivation. We analyzed 715 X-linked transcripts in circulating monocytes from 1,467 subjects and found an excess of female-biased transcripts on the X compared to autosomes (9.4% vs 5.5%, p<2×10(-5)). Among the genes not previously known to escape inactivation, the most significant one was EFHC2 whose 20% of variability was explained by sex. We also investigated cis expression quantitative trait loci (eQTLs) by analyzing 15,703 X-linked SNPs. The frequency and magnitude of X-linked cis eQTLs were quite similar in males and females. Few genes exhibited a stronger genetic effect in females than in males (ARSD, DCX, POLA1 and ITM2A). These genes would deserve further investigation since they may contribute to sex pathophysiological differences.
在人类中，通过微阵列研究估计，雌性中表达更高的 X 连锁基因的比例为 5%，这一比例低于被认为逃避 X 失活的 25%的基因。我们分析了来自 1467 个个体的循环单核细胞中的 715 个 X 连锁转录本，发现与常染色体相比，X 染色体上存在过多的雌性偏性转录本（9.4%比 5.5%，p<2×10(-5)）。在以前未被发现逃避失活的基因中，最显著的一个是 EFHC2，其 20%的变异性由性别解释。我们还通过分析 15703 个 X 连锁 SNP 研究了顺式表达数量性状基因座（cis-eQTLs）。X 连锁顺式 eQTL 的频率和幅度在男性和女性中非常相似。少数基因在女性中的遗传效应强于男性（ARSD、DCX、POLA1 和 ITM2A）。这些基因值得进一步研究，因为它们可能有助于解释性别病理生理学差异。
