HOMOLOGOUS RIBOSOMAL-PROTEIN GENES ON THE HUMAN X-CHROMOSOME AND Y-CHROMOSOME - ESCAPE FROM X-INACTIVATION AND POSSIBLE IMPLICATIONS FOR TURNER SYNDROME
HOMOLOGOUS RIBOSOMAL-PROTEIN GENES ON THE HUMAN X-CHROMOSOME AND Y-CHROMOSOME - ESCAPE FROM X-INACTIVATION AND POSSIBLE IMPLICATIONS FOR TURNER SYNDROME
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DOI：
10.1016/0092-8674(90)90416-c
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发表时间：
1990-12-21
期刊：
影响因子：
64.5
通讯作者：
PAGE, DC
中科院分区：
文献类型：
--
作者：
FISHER, EMC;BEERROMERO, P;PAGE, DC
我们已经分离出人类性染色体上的两个基因，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的同种型。 这些预测的RPS4Y和RPS4X蛋白质在263个氨基酸中的19个处不同。 这两种基因在人体组织中广泛转录，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不是剂量补偿的。 RPS4X定位于X染色体的长臂（Xq），已知没有其他基因可以逃脱X失活。 奇怪的是，RPS4X映射到了被认为是X灭活信号发出的地点附近。 在Y染色体上，RPS4Y映射到一个90 kb的片段，该片段与特纳综合征有关。 我们认为RPS4单倍不足可能在特纳表型的病因学中发挥作用。
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.