Peichel C L, Abbott C M, Vogt T F
Department of Molecular Biology, Princeton University, New Jersey 08544, USA.
Genetics. 1996 Dec;144(4):1757-67. doi: 10.1093/genetics/144.4.1757.
The mouse Ulnaless locus is a semidominant mutation which displays defects in patterning along the proximal-distal and anterior-posterior axes of all four limbs. The first Ulnaless homozygotes have been generated, and they display a similar, though slightly more severe, limb phenotype than the heterozygotes. To create a refined genetic map of the Ulnaless region using molecular markers, four backcrosses segregating Ulnaless were established. A 0.4-cM interval containing the Ulnaless locus has been defined on mouse chromosome 2, which has identified Ulnaless as a possible allele of a Hoxd cluster gene(s). With this genetic map as a framework, a physical map of the Ulnaless region has been completed. Yeast artificial chromosomes covering this region have been isolated and ordered into a 2 Mb contig. Therefore, the region that must contain the Ulnaless locus has been defined and cloned, which will be invaluable for the identification of the molecular nature of the Ulnaless mutation.
小鼠无尺骨基因座是一种半显性突变,它在所有四肢的近远轴和前后轴的模式形成中表现出缺陷。首个无尺骨纯合子已被培育出来,它们表现出与杂合子相似但稍显严重的肢体表型。为了使用分子标记构建无尺骨区域的精细遗传图谱,建立了四个分离无尺骨基因的回交群体。在小鼠2号染色体上定义了一个包含无尺骨基因座的0.4厘摩区间,这已将无尺骨基因确定为Hoxd簇基因的一个可能等位基因。以这个遗传图谱为框架,完成了无尺骨区域的物理图谱。覆盖该区域的酵母人工染色体已被分离并排列成一个2兆碱基的重叠群。因此,必须包含无尺骨基因座的区域已被定义并克隆,这对于确定无尺骨突变的分子本质将是非常宝贵的。