Isolation of a new gene from the distal short arm of the human X chromosome that escapes X-inactivation.
Isolation of a new gene from the distal short arm of the human X chromosome that escapes X-inactivation.
复制标题
从人类 X 染色体远端短臂中分离出一个新基因，该基因逃脱了 X 失活。
DOI：
10.1093/hmg/1.1.47
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发表时间：
1992
影响因子：
3.5
通讯作者：
Shapiro,L
中科院分区：
文献类型：
--
作者：
Yen,PH;Ellison,J;Salido,EC;Mohandas,T;Shapiro,L
一个命名为GS1的基因与人类X染色体远端短臂上类固醇硫酸酯酶(STS)基因座上约100kb的CpG岛相关联而被鉴定。GS1基因的cDNA克隆和基因组克隆均已被分离和鉴定。该克隆在人胎盘和成纤维细胞中检测到2.3kb的转录本，可能编码214个氨基酸残基的蛋白质。虽然与GS1基因同源的序列存在于第1、20、X和Y染色体上，但功能性的GS1基因位于X染色体上。GS1基因似乎不是必需的，因为STS基因点突变的STS缺陷患者与STS和GS1基因缺失的患者之间没有明显的临床差异。GS1基因是从含有活性或非活性人类X染色体的鼠-人细胞杂交中表达出来的，这表明它逃脱了X的失活。对GS1基因组克隆的分析表明，该基因由4个外显子组成，全长105kb，转录方向与STS基因相反。分离和鉴定从XP末端逃脱X失活的新基因是很有意义的，因为它有助于我们理解人类X染色体的结构组织，并可能有助于提供关于X失活机制的线索。
A gene, designated GS1, was identified by its association with a CpG island approximately 100 kb telomeric to the steroid sulfatase (STS) locus on the distal short arm of the human X chromosome. Both cDNA and genomic clones of the GS1 gene have been isolated and characterized. The cDNA clone detects a 2.3 kb transcript in human placenta and fibroblasts, and may encode a protein of 214 amino acid residues. Although sequences homologous to GS1 cDNA are present on chromosomes 1, 20, X, and Y, the functional GS1 gene is on the X chromosome. The GS1 gene appears to be non-essential, as there are no obvious clinical differences between STS deficient patients with point mutations in the STS gene, and patients with a deletion of the STS and GS1 genes. The GS1 gene is expressed from mouse-human cell hybrids containing active or inactive human X chromosomes, indicating that it escapes X inactivation. Characterization of GS1 genomic clones revealed that the gene consists of 4 exons spanning over 105 kb, with its transcriptional direction opposite to that of the STS gene. The isolation and characterization of a new gene which escapes X inactivation from distal Xp is of interest as it adds to our understanding of the structural organization of the human X chromosome and may help in providing clues regarding the mechanism of X-inactivation.