Pittman D L, Schimenti J C
The Jackson Laboratory, Bar Harbor, Maine 04609, USA.
Genesis. 2000 Mar;26(3):167-73. doi: 10.1002/(sici)1526-968x(200003)26:3<167::aid-gene1>3.0.co;2-m.
Homologous recombination (HR) occurs in all organisms, and is important for repair of DNA damage, chromosome segregation during meiosis, and genetic diversification. Genes critical for recombinational DNA repair and meiotic recombination include members of the RecA/RAD51 family, of which seven have been identified in mammals. Here, we describe the disruption of Rad51d (recently designated Rad51l3) in mice and its phenotypic consequences. Rad51d-deficient mice die between 8.5 and 11.5 dpc. The affected embryos are smaller than littermates, posteriorly truncated, and developmentally delayed. Embryonic fibroblasts from mutant embryos could not be propagated more than one generation in culture. Rad51d-deficient blastocysts were not sensitive to gamma radiation or methylmethanesulfonate (MMS) in blastocyst outgrowth experiments. The variable and generalized developmental progression defects in Rad51d-deficient embryos suggests that mutant cells may undergo delayed or suboptimal repair of DNA damage, resulting in accumulated degrees of mutation and/or cell cycle perturbation that are incompatible with normal embryonic development. genesis 26:167-173, 2000.
同源重组(HR)存在于所有生物体中,对于DNA损伤修复、减数分裂过程中的染色体分离以及遗传多样化都很重要。对重组DNA修复和减数分裂重组至关重要的基因包括RecA/RAD51家族的成员,其中七个已在哺乳动物中被鉴定出来。在此,我们描述了小鼠中Rad51d(最近命名为Rad51l3)的缺失及其表型后果。Rad51d基因缺失的小鼠在胚胎期第8.5至11.5天死亡。受影响的胚胎比同窝仔小,后部截断,发育延迟。来自突变胚胎的胚胎成纤维细胞在培养中无法传代超过一代。在胚泡生长实验中,Rad51d基因缺失的胚泡对γ射线或甲基磺酸甲酯(MMS)不敏感。Rad51d基因缺失胚胎中可变且普遍的发育进程缺陷表明,突变细胞可能对DNA损伤进行延迟或次优修复,导致积累的突变程度和/或细胞周期扰动,这与正常胚胎发育不相容。《基因》26:167 - 173,2000年。