小鼠11号染色体节段性非整倍体引起的胚胎致死性和肿瘤发生
Embryonic lethality and tumorigenesis caused by segmental aneuploidy on mouse chromosome 11.
作者信息
Liu P, Zhang H, McLellan A, Vogel H, Bradley A
机构信息
Department of Human and Molecular Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.
出版信息
Genetics. 1998 Nov;150(3):1155-68. doi: 10.1093/genetics/150.3.1155.
Abstract
Chromosome engineering in mice enables the construction of models of human chromosomal diseases and provides key reagents for genetic studies. To begin to define functional information for a small portion of chromosome 11, deficiencies, duplications, and inversions were constructed in embryonic stem cells with sizes ranging from 1 Mb to 22 cM. Two deficiencies and three duplications were established in the mouse germline. Mice with a 1-Mb duplication developed corneal hyperplasia and thymic tumors, while two different 3- to 4-cM deficiencies were embryonically lethal in heterozygous mice. A duplication corresponding to one of these two deficiencies was able to rescue its haplolethality.
摘要
小鼠中的染色体工程能够构建人类染色体疾病模型，并为遗传学研究提供关键试剂。为了开始定义11号染色体一小部分的功能信息，在胚胎干细胞中构建了大小从1兆碱基到22厘摩不等的缺失、重复和倒位。在小鼠种系中建立了两个缺失和三个重复。具有1兆碱基重复的小鼠出现角膜增生和胸腺肿瘤，而两种不同的3至4厘摩缺失在杂合小鼠中胚胎致死。与这两种缺失之一相对应的重复能够挽救其单倍体致死性。
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