Dembic Z, Ayane M, Klein J, Steinmetz M, Benoist C O, Mathis D J
EMBO J. 1985 Jan;4(1):127-31. doi: 10.1002/j.1460-2075.1985.tb02326.x.
Several inbred strains and a certain percentage of wild mice bear a deletion in the E alpha gene of the mouse major histocompatibility complex (H-2). This mutation prevents transcription of the E alpha gene and hence functional expression of the E alpha E beta dimer on the cell surface. Two strains were selected for a more precise localization of this deletion. BALB.B is a congenic line carrying the H-2b haplotype on the BALB/c background. CRO435 is an outbred stock derived from a wild mouse captured near Cairo, Egypt; it carries the H-2w37 haplotype including a null Ew28 alpha allele, as well as semi-lethal mutations in the H-2 linked t complex (tTuw7). From these two strains, we have isolated genomic clones that contain fragments spanning the E alpha deletion, and have sequenced the breakpoint region. The deletions in the two strains are identical, spanning 627 bp which include the promoter region and the signal peptide exon of the E alpha gene. Limited sequence comparison suggests that the Eb alpha allele of BALB.B is more closely related to the Ew28 alpha allele of CRO435 than both of these are to an E alpha-expressor allele, Ed alpha. It is therefore likely that the Eo deletions in the various inbred strains and wild mice are of the same origin, and we propose that they have been disseminated throughout the mouse population because of linkage to the t complex.
几种近交系和一定比例的野生小鼠在小鼠主要组织相容性复合体(H-2)的Eα基因中存在缺失。这种突变阻止了Eα基因的转录,从而阻止了EαEβ二聚体在细胞表面的功能性表达。选择了两个品系来更精确地定位这种缺失。BALB.B是一个同源近交系,在BALB/c背景上携带H-2b单倍型。CRO435是一种远交群体,来源于在埃及开罗附近捕获的一只野生小鼠;它携带H-2w37单倍型,包括一个无效的Ew28α等位基因,以及H-2连锁t复合体(tTuw7)中的半致死突变。从这两个品系中,我们分离出了包含跨越Eα缺失片段的基因组克隆,并对断点区域进行了测序。这两个品系中的缺失是相同的,跨越627 bp,包括Eα基因的启动子区域和信号肽外显子。有限的序列比较表明,BALB.B的Ebα等位基因与CRO435的Ew28α等位基因的关系比这两者与Eα表达等位基因Edα的关系更密切。因此,各种近交系和野生小鼠中的Eo缺失可能起源相同,我们认为它们由于与t复合体的连锁而在整个小鼠群体中传播。