Juriloff D M, Harris M J, Mah D G, Benson A
Department of Medical Genetics, University of British Columbia, Canada.
Mamm Genome. 1996 Jun;7(6):403-7. doi: 10.1007/s003359900121.
Complex nonadditive interactions between specific alleles at multiple loci may underlie many so-called multifactorial threshold birth defects. The open-eyelids-at-birth defect in mice is a good model for these defects, and an understanding of its genetic complexity begins with mapping the participating loci. The open-eyelids defect can be part of a syndrome or can occur with no other obvious phenotypic effects. Of the latter nonsyndromic forms, the lidgap series includes four extant mutations that are considered to be alleles based on complementation tests. All show genetic complexity in segregation ratios. None has been mapped previously. On the basis of a strategy of mapping the mutation with the simplest inheritance pattern first, we generated an extensive exclusion map for lidgap-Gates, lgGa, using morphological and protein polymorphisms. We then screened the non-excluded regions in a congenic strain, AEJ.LGG-lgGa, for SSLP markers and located the differential chromosome segment containing the lgGa locus in a region near the distal end of mouse Chromosome (Chr) 13. This linkage was confirmed and refined by typing SSLPs in 64 F2 and 74 BC1 progeny of a cross of LGG/Bc (lgGa/lgGa) to SWV/Bc. The lgGa mutation maps to a 1- to 2-cM region between D13Mit76 and D13Mit53. Integrin alpha 1 and integrin alpha 2, which map to the same general region, are possible candidate loci, based on their embryonic expression and cellular function. Evidence is also presented for a common unlinked recessive suppressor of the open eyelids trait caused by lgGa.
多个基因座上特定等位基因之间复杂的非加性相互作用可能是许多所谓的多因素阈值出生缺陷的基础。小鼠出生时睁眼缺陷是这些缺陷的一个良好模型,对其遗传复杂性的理解始于对参与基因座的定位。睁眼缺陷可能是综合征的一部分,也可能在没有其他明显表型效应的情况下出现。在后者的非综合征形式中,眼睑间隙系列包括四个现存突变,根据互补试验,这些突变被认为是等位基因。所有这些突变在分离比例上都显示出遗传复杂性。以前都没有进行过定位。基于首先对具有最简单遗传模式的突变进行定位的策略,我们利用形态学和蛋白质多态性为眼睑间隙 - 盖茨(lidgap-Gates,lgGa)生成了一个广泛的排除图谱。然后,我们在一个同源近交系AEJ.LGG-lgGa中筛选非排除区域的简单序列长度多态性(SSLP)标记,并将包含lgGa基因座的差异染色体区段定位在小鼠第13号染色体(Chr)远端附近的一个区域。通过对LGG/Bc(lgGa/lgGa)与SWV/Bc杂交的64个F2和74个回交一代(BC1)后代进行SSLP分型,证实并细化了这种连锁关系。lgGa突变定位在D13Mit76和D13Mit53之间1至2厘摩(cM)的区域。整合素α1和整合素α2定位在同一大致区域,基于它们的胚胎表达和细胞功能,它们可能是候选基因座。同时也有证据表明存在一个与lgGa引起的睁眼性状无关的共同隐性抑制基因。