人类组织中X连锁类固醇硫酸酯酶基因座存在剂量效应的证据。
Evidence for a dosage effect at the X-linked steroid sulfatase locus in human tissues.
作者信息
Chance P F, Gartler S M
出版信息
Am J Hum Genet. 1983 Mar;35(2):234-40.
Abstract
Steroid sulfatase (STS) is an X-linked enzyme whose locus escapes X inactivation in human somatic cells. STS activity was determined in human fibroblasts varying in X-chromosome number from one to four. Greater STS activity was detected in 2X cell strains when compared to 1X cell strains; however, increased STS activity was not found in 3 and 4X strains as compared with the 2X strains. Greater STS activity was also observed in female hair follicles when compared with male hair follicles. These data provide evidence of a gene dosage effect at the STS locus in human tissues.
摘要
类固醇硫酸酯酶（STS）是一种X连锁酶，其基因座在人类体细胞中逃避X染色体失活。在X染色体数量从一到四个不等的人类成纤维细胞中测定了STS活性。与1X细胞株相比，在2X细胞株中检测到更高的STS活性；然而，与2X细胞株相比，在3X和4X细胞株中未发现STS活性增加。与男性毛囊相比，在女性毛囊中也观察到更高的STS活性。这些数据提供了人类组织中STS基因座存在基因剂量效应的证据。
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