一个新基因DXS8237E位于Xp11.23中UBE1上游20 kb范围内，且具有不同的X染色体失活状态。

A novel gene, DXS8237E, lies within 20 kb upstream of UBE1 in Xp11.23 and has a different X inactivation status.

作者信息

Coleman M P, Ambrose H J, Carrel L, Németh A H, Willard H F, Davies K E

机构信息

Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, United Kingdom.

出版信息

Genomics. 1996 Jan 1;31(1):135-8. doi: 10.1006/geno.1996.0022.

DOI:10.1006/geno.1996.0022

PMID:8808293

Abstract

A novel X-linked gene, DXS8237E, was isolated from human fetal brain cDNA, and its 3' end was mapped to within 20 kb upstream of UBE1 in Xp11.23. A 1.3-kb cDNA for DXS8237E detects homologous sequences in other mammals and a 3-kb mRNA that is widely expressed in human cell lines and mouse tissues. Sequence analysis indicated that the 1.3-kb cDNA contains the 3' end of the DXS8237E gene, but the sequence shows no significant homology to known genes. DXS8237E was shown to be subject to X inactivation in five somatic cell hybrids that contain an inactive human X chromosome but no active homologue. Since UBE1 escapes X inactivation, DXS8237E and UBE1 are the closest mapped genes with discordant X inactivation profiles. Sequences in the vicinity of these two genes may be important determinants of X inactivation status.

摘要

从人胎儿脑cDNA中分离出一个新的X连锁基因DXS8237E，其3'端定位于Xp11.23中UBE1上游20 kb范围内。DXS8237E的一个1.3 kb cDNA在其他哺乳动物中检测到同源序列，以及在人细胞系和小鼠组织中广泛表达的3 kb mRNA。序列分析表明，1.3 kb cDNA包含DXS8237E基因的3'端，但该序列与已知基因无明显同源性。在五个含有失活人类X染色体但无活性同源物的体细胞杂种中，DXS8237E被证明会发生X染色体失活。由于UBE1逃避X染色体失活，DXS8237E和UBE1是具有不一致X染色体失活谱的最紧密定位基因。这两个基因附近的序列可能是X染色体失活状态的重要决定因素。