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Abstract：
Somatic cells of human males and females have 45 chromosomes in common, including the \"active\" X chromosome. In males the 46th chromosome is a Y; in females it is an \"inactive\" X (Xi). Through linear modeling of autosomal gene expression in cells from individuals with zero to three Xi and zero to four Y chromosomes, we found that Xi and Y impact autosomal expression broadly and with remarkably similar effects. Studying sex chromosome structural anomalies, promoters of Xi- and Y-responsive genes, and CRISPR inhibition, we traced part of this shared effect to homologous transcription factors-ZFX and ZFY-encoded by Chr X and Y. This demonstrates sex-shared mechanisms by which Xi and Y modulate autosomal expression. Combined with earlier analyses of sex-linked gene expression, our studies show that 21% of all genes expressed in lymphoblastoid cells or fibroblasts change expression significantly in response to Xi or Y chromosomes.
摘要：
人类男性和女性的体细胞共有45条染色体，包括“活跃”X染色体。在男性中，第46染色体是Y；在女性中，它是“非活性”X（Xi）。通过对具有零至三个Xi和零至四个Y染色体的个体的细胞中常染色体基因表达的线性建模，我们发现Xi和Y广泛影响常染色体表达，并且具有非常相似的作用。研究性染色体结构异常，Xi和Y反应基因的启动子，和CRISPR抑制，我们将这种共同作用的一部分追溯到由ChrX和Y编码的同源转录因子ZFX和ZFY。这证明了Xi和Y调节常染色体表达的性别共享机制。结合早期对性别相关基因表达的分析，我们的研究表明，在淋巴母细胞或成纤维细胞中表达的所有基因中有21％响应Xi或Y染色体而显着改变表达。
