Watanabe M, Zinn A R, Page D C, Nishimoto T
Department of Molecular Biology, Graduate School of Medical Science, Kyushu University, Fukuoka, Japan.
Nat Genet. 1993 Jul;4(3):268-71. doi: 10.1038/ng0793-268.
Several genes are found on both the human X and Y chromosomes in regions that do not recombine during male meiosis. In each case, nucleotide sequence analysis suggests that these X-Y gene pairs encode similar but nonidentical proteins. Here we show that the human Y- and X-encoded ribosomal proteins, RPS4Y and RPS4X, are interchangeable and provide an essential function: either protein rescued a mutant hamster cell line that was otherwise incapable of growth at modestly elevated temperatures. These findings are consistent with the hypothesis that RPS4 deficiency has a role in Turner syndrome, a complex human phenotype associated with monosomy X.
在男性减数分裂过程中不发生重组的区域，人类X和Y染色体上都发现了几个基因。在每种情况下，核苷酸序列分析表明，这些XY基因对编码相似但不完全相同的蛋白质。在这里，我们表明人类Y编码和X编码的核糖体蛋白RPS4Y和RPS4X是可互换的，并提供一种基本功能：任何一种蛋白质都能挽救一个突变的仓鼠细胞系，否则该细胞系在适度升高的温度下无法生长。这些发现与以下假设一致，即RPS4缺乏在特纳综合征中起作用，特纳综合征是一种与X单体相关的复杂人类表型。
