Sultana R, Adler D A, Edelhoff S, Carrel L, Lee K H, Chapman V C, Willard H F, Disteche C M
Department of Pathology, University of Washington, Seattle 98195, USA.
Hum Mol Genet. 1995 Feb;4(2):257-63. doi: 10.1093/hmg/4.2.257.
The mouse homolog of the human DXS423E (SB1.8) gene has been isolated by screening a mouse cDNA library. Like its human counterpart, the mouse Sb1.8 gene is X-linked, as shown by Southern blot analysis and by in situ hybridization to metaphase chromosomes. Sb1.8 was sublocalized to band F of the mouse X chromosome, distal to Alas2 and proximal to DXPas1, which confirms a region of conservation between band Xp11.21-p11.22 in human and band XF in mouse. In situ hybridization also showed that the Smcx (Xe169) gene maps near Sb1.8 in band F. The Sb1.8 gene was shown to be highly conserved in mammals; partial DNA sequence analysis indicates 92% identity between the mouse and human genes. In contrast to the human DXS423E gene, the mouse Sb1.8 gene is subject to X inactivation, as shown by restriction enzyme and sequence analysis of mRNA from mice with Searle's translocation (T(X;16)16H). Absence of Sb1.8 expression from the inactive mouse X chromosome in vitro was confirmed by analysis of a cell line (Hobmski) in which the M. spretus X chromosome is inactivated. The Sb1.8 gene is a new member of a group of genes that escape X inactivation in human, but are inactivated in mouse.
通过筛选小鼠cDNA文库,分离出了人类DXS423E(SB1.8)基因的小鼠同源基因。正如其人类对应基因一样,小鼠Sb1.8基因是X连锁的,这通过Southern印迹分析以及与中期染色体的原位杂交得以证明。Sb1.8被亚定位到小鼠X染色体的F带,位于Alas2远端且在DXPas1近端,这证实了人类Xp11.21 - p11.22带与小鼠XF带之间的保守区域。原位杂交还表明,Smcx(Xe169)基因定位于F带中靠近Sb1.8的位置。已证明Sb1.8基因在哺乳动物中高度保守;部分DNA序列分析表明,小鼠和人类基因之间的同一性为92%。与人类DXS423E基因不同,小鼠Sb1.8基因会发生X染色体失活,这通过对具有塞尔易位(T(X;16)16H)的小鼠的mRNA进行限制性内切酶和序列分析得以证明。通过对一个细胞系(Hobmski)的分析证实,在体外,无活性的小鼠X染色体上不存在Sb1.8表达,在该细胞系中,斯氏小家鼠X染色体处于失活状态。Sb1.8基因是人类中逃脱X染色体失活但在小鼠中发生失活的一组基因的新成员。