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小鼠和人类中编码翻译起始因子eIF-2γ的基因特征:性染色体定位、逃避X染色体失活及进化

Characterization of genes encoding translation initiation factor eIF-2gamma in mouse and human: sex chromosome localization, escape from X-inactivation and evolution.

作者信息

Ehrmann I E, Ellis P S, Mazeyrat S, Duthie S, Brockdorff N, Mattei M G, Gavin M A, Affara N A, Brown G M, Simpson E, Mitchell M J, Scott D M

机构信息

Transplantation Biology Group, MRC Clinical Sciences Centre, Imperial College School of Medicine, Hammersmith Hospital, Du Cane Road, London W12 ONN, UK.

出版信息

Hum Mol Genet. 1998 Oct;7(11):1725-37. doi: 10.1093/hmg/7.11.1725.

Abstract

The Delta Sxrb interval of the mouse Y chromosome is critical for spermatogenesis and expression of the male-specific minor transplantation antigen H-Y. Several genes have been mapped to this interval and each has a homologue on the X chromosome. Four, Zfy1 , Zfy2 , Ube1y and Dffry , are expressed specifically in the testis and their X homologues are not transcribed from the inactive X chromosome. A further two, Smcy and Uty , are ubiquitously expressed and their X homologues escape X-inactivation. Here we report the identification of another gene from this region of the mouse Y chromosome. It encodes the highly conserved eukaryotic translation initiation factor eIF-2gamma. In the mouse this gene is ubiquitously expressed, has an X chromosome homologue which maps close to Dmd and escapes X-inactivation. The coding regions of the X and Y genes show 86% nucleotide identity and encode putative products with 98% amino acid identity. In humans, the eIF-2gamma structural gene is located on the X chromosome at Xp21 and this also escapes X-inactivation. However, there is no evidence of a Y copy of this gene in humans. We have identified autosomal retroposons of eIF-2gamma in both humans and mice and an additional retroposon on the X chromosome in some mouse strains. Ark blot analysis of eutherian and metatherian genomic DNA indicates that X-Y homologues are present in all species tested except simian primates and kangaroo and that retroposons are common to a wide range of mammals. These results shed light on the evolution of X-Y homologous genes.

摘要

小鼠Y染色体的Delta Sxrb区间对精子发生和雄性特异性次要移植抗原H-Y的表达至关重要。几个基因已被定位到这个区间,并且每个基因在X染色体上都有一个同源物。其中四个基因,Zfy1、Zfy2、Ube1y和Dffry,在睾丸中特异性表达,它们在X染色体上的同源物在失活的X染色体上不转录。另外两个基因,Smcy和Uty,在全身广泛表达,它们在X染色体上的同源物逃避X染色体失活。在这里,我们报告从小鼠Y染色体的这个区域鉴定出另一个基因。它编码高度保守的真核翻译起始因子eIF-2γ。在小鼠中,这个基因在全身广泛表达,有一个位于靠近Dmd的X染色体同源物,并且逃避X染色体失活。X和Y基因的编码区显示86%的核苷酸同一性,编码的推定产物具有98%的氨基酸同一性。在人类中,eIF-2γ结构基因位于X染色体的Xp21处,并且这也逃避X染色体失活。然而,在人类中没有该基因Y拷贝的证据。我们已经在人类和小鼠中鉴定出eIF-2γ的常染色体反转录转座子,并且在一些小鼠品系的X染色体上鉴定出另一个反转录转座子。对真兽类和后兽类基因组DNA的Ark印迹分析表明,除了猿猴灵长类动物和袋鼠外,在所有测试物种中都存在X-Y同源物,并且反转录转座子在广泛的哺乳动物中很常见。这些结果揭示了X-Y同源基因的进化。

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