Papaioannou Virginia E
Department of Genetics and Development, College of Physicians and Surgeons of Columbia University, 701 W. 168th Street, New York, NY 10032, USA.
Reprod Biomed Online. 2002;4 Suppl 1:68-71. doi: 10.1016/s1472-6483(12)60015-7.
Synergism between the fields of reproduction and development has long been an important factor for advances in each field, and the development of gene modification technology in mammals has progressed hand in hand with advances in reproductive technology. The discovery and exploitation of embryonic stem cells for producing targeted gene mutations in the mouse, combined with advances in genome analysis, has provided a means of producing mouse models of human genetic diseases, including congenital defects. This review presents examples of how gene targeting and reproductive biology techniques are being applied to the production of mouse models for specific human developmental syndromes caused by mutations in genes of the T-box transcription factor gene family. The ulnar-mammary syndrome and the DiGeorge syndrome are two developmental syndromes that are currently being explored in this way.
生殖与发育领域之间的协同作用长期以来一直是推动每个领域进步的重要因素，哺乳动物基因编辑技术的发展与生殖技术的进步齐头并进。利用胚胎干细胞在小鼠中产生靶向基因突变，并结合基因组分析的进展，为构建包括先天性缺陷在内的人类遗传疾病小鼠模型提供了一种方法。本综述列举了基因靶向和生殖生物学技术如何应用于构建由T-box转录因子基因家族基因突变引起的特定人类发育综合征小鼠模型的实例。尺骨-乳腺综合征和DiGeorge综合征就是目前正通过这种方式进行研究的两种发育综合征。
