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ZFX具有与假定的人类性别决定基因ZFY相似的基因结构,并且逃避X染色体失活。

ZFX has a gene structure similar to ZFY, the putative human sex determinant, and escapes X inactivation.

作者信息

Schneider-Gädicke A, Beer-Romero P, Brown L G, Nussbaum R, Page D C

机构信息

Whitehead Institute for Biomedical Research, Nine Cambridge Center, Massachusetts 02142.

出版信息

Cell. 1989 Jun 30;57(7):1247-58. doi: 10.1016/0092-8674(89)90061-5.

Abstract

The ZFX gene on the human X chromosome is structurally similar to the ZFY gene, which may constitute the sex-determining signal on the human Y chromosome. ZFY and ZFX diverged from a common ancestral gene, as evidenced by similarities in their intron/exon organization and exon DNA sequences. The carboxy-terminal exons of ZFY and ZFX both encode 13 zinc fingers; 383 of 393 amino acid residues are identical, and there are no insertions or deletions. Thus, the ZFY and ZFX proteins may bind to the same nucleic acid sequences. ZFY and ZFX are transcribed in a wide variety of XY and (in the case of ZFX) XX cell lines. Transcription analysis of human-rodent hybrid cell lines containing "inactive" human X chromosomes suggests that ZFX escapes X inactivation. This result contradicts the "dosage/X-inactivation" model, which postulated that sex is determined by the total amount of functionally interchangeable ZFY and ZFX proteins.

摘要

人类X染色体上的ZFX基因在结构上与ZFY基因相似,后者可能构成人类Y染色体上的性别决定信号。ZFY和ZFX由一个共同的祖先基因分化而来,这一点可通过它们内含子/外显子组织和外显子DNA序列的相似性得到证明。ZFY和ZFX的羧基末端外显子均编码13个锌指结构;393个氨基酸残基中有383个相同,且不存在插入或缺失。因此,ZFY和ZFX蛋白可能结合相同的核酸序列。ZFY和ZFX在多种XY细胞系以及(就ZFX而言)XX细胞系中都有转录。对含有“失活”人类X染色体的人-鼠杂交细胞系进行的转录分析表明,ZFX逃避了X染色体失活。这一结果与“剂量/X染色体失活”模型相矛盾,该模型假定性别由功能上可互换的ZFY和ZFX蛋白的总量决定。

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