Pax基因家族编码的蛋白是一组极为重要的转录调控因子,在胚胎发育的器官形成中扮演重要角色,其主要功能包括:调控细胞增殖、促进细胞自我更新、诱导前体细胞定向转移以及改变特异细胞系的分化方向。目前已知,Pax基因的非正常表达是多种先天性疾病的主要诱因。Pax基因的选择性剪接体通常具有一定的空间特异性,每种剪接体都有其主要作用的靶位和信号通路。文章简述了Pax基因的相关背景知识,详细介绍Pax1—Pax9调控在胚胎组织发育中的各项功能,并列举了现已确定的Pax基因在不同物种中的选择性剪接产物。The Pax gene family encodes a group of transcription factors and plays an essential role in organogenesis during embryonic development through regulating cell proliferation and self-renewal, migration of embryonic precursor cells, and the coordination of specific differentiation programs. This is supported by the fact that expression of Pax is dysregulated in several congenital disease. Alternative transcripts of Pax genes are identified in various tissues with specific location, and each isoforms has their own major molecular targets and signaling pathways. In this review, we provide a general background of the Pax genes, highlight the role of Pax proteins playing within specific tissues in terms of embryological development, and give a brief introduction of alternatively spliced isoforms of Pax protein identified.国家自然科学基金(30470938,30570208
