Zinn A R, Bressler S L, Beer-Romero P, Adler D A, Chapman V M, Page D C, Disteche C M
Howard Hughes Research Laboratories, Whitehead Institute, Cambridge, Massachusetts.
Genomics. 1991 Dec;11(4):1097-101. doi: 10.1016/0888-7543(91)90037-f.
The human RPS4X and RPS4Y genes, located on the X and Y chromosomes, appear to encode isoforms of ribosomal protein S4. Haploinsufficiency of these genes may contribute to the human phenotype known as Turner syndrome. Although RPS4X maps near the X-inactivation center, the gene is expressed on inactive human X chromosomes. We cloned Rps4, the mouse homolog of RPS4X. Exploiting allelic variation in Rps4, we examined transcription of the gene from active and inactive mouse X chromosomes in vivo, in female mice carrying an X-autosome translocation. We report that mouse Rps4, unlike human RPS4X, is subject to X inactivation. This finding may explain, at least in part, why the phenotypic consequences of X monosomy are less severe in mice than in humans.
位于X染色体和Y染色体上的人类RPS4X和RPS4Y基因似乎编码核糖体蛋白S4的同工型。这些基因的单倍体不足可能导致被称为特纳综合征的人类表型。尽管RPS4X定位于X染色体失活中心附近，但该基因在失活的人类X染色体上表达。我们克隆了Rps4，即RPS4X的小鼠同源基因。利用Rps4中的等位基因变异，我们在携带X-常染色体易位的雌性小鼠体内检测了该基因在活跃和失活的小鼠X染色体上的转录情况。我们报告称，与人类RPS4X不同，小鼠Rps4会发生X染色体失活。这一发现可能至少部分解释了为什么X染色体单体在小鼠中的表型后果比在人类中要轻。
