人类X和Y染色体上的同源核糖体蛋白基因：逃脱X染色体失活及其对特纳综合征的可能影响

Homologous ribosomal protein genes on the human X and Y chromosomes: escape from X inactivation and possible implications for Turner syndrome.

作者信息

Fisher E M, Beer-Romero P, Brown L G, Ridley A, McNeil J A, Lawrence J B, Willard H F, Bieber F R, Page D C

机构信息

Howard Hughes Research Laboratories, Whitehead Institute for Biomedical Research, Cambridge, Massachusetts 02142.

出版信息

Cell. 1990 Dec 21;63(6):1205-18. doi: 10.1016/0092-8674(90)90416-c.

DOI:10.1016/0092-8674(90)90416-c

PMID:2124517

Abstract

We have isolated two genes on the human sex chromosomes, one on the Y and one on the X, that appear to encode isoforms of ribosomal protein S4. These predicted RPS4Y and RPS4X proteins differ at 19 of 263 amino acids. Both genes are widely transcribed in human tissues, suggesting that the ribosomes of human males and females are structurally distinct. Transcription analysis revealed that, unlike most genes on the X chromosome, RPS4X is not dosage compensated. RPS4X maps to the long arm of the X chromosome (Xq), where no other genes are known to escape X inactivation. Curiously, RPS4X maps near the site from which the X-inactivating signal is thought to emanate. On the Y chromosome, RPS4Y maps to a 90 kb segment that has been implicated in Turner syndrome. We consider the possible role of RPS4 haploinsufficiency in the etiology of the Turner phenotype.

摘要

我们在人类性染色体上分离出了两个基因，一个在Y染色体上，一个在X染色体上，它们似乎编码核糖体蛋白S4的亚型。这些预测的RPS4Y和RPS4X蛋白在263个氨基酸中有19个不同。这两个基因在人类组织中广泛转录，表明人类男性和女性的核糖体在结构上是不同的。转录分析显示，与X染色体上的大多数基因不同，RPS4X没有剂量补偿。RPS4X定位于X染色体长臂（Xq），在该区域没有其他已知逃避X染色体失活的基因。奇怪的是，RPS4X定位于据认为X染色体失活信号发出的位点附近。在Y染色体上，RPS4Y定位于一个与特纳综合征有关的90 kb片段。我们考虑了RPS4单倍体不足在特纳综合征病因学中的可能作用。