PAX3 gene structure, alternative splicing and evolution
PAX3 gene structure, alternative splicing and evolution
复制标题
DOI：
10.1016/s0378-1119(99)00339-x
复制
发表时间：
1999-09-17
期刊：
影响因子：
3.5
通讯作者：
Friedman, TB
中科院分区：
文献类型：
--
作者：
Barber, TD;Barber, MC;Friedman, TB
PAX 3是在胚胎发生和癌症表观发生期间起作用的转录因子的配对盒家族的成员。PAX 3的突变导致Waardenburg综合征（1型和3型）、颅面耳聋手综合征和人的肺泡横纹肌肉瘤以及小鼠的斑点表型。在这项研究中，我们描述了PAX 3的基因组结构，包括新的编码序列和完整的3' UTR。PAX 3的替代转录物在各种组织中被鉴定，包括人类成年骨骼肌和小鼠胚胎。一种新的替代转录本在鹌鹑中是进化上保守的，并且可以反式激活含有小鼠c-met启动子的报告构建体。本文报道的序列和替代转录物扩展了我们对PAX 3在脊椎动物中的功能和进化的理解，并能够对Waardenburg综合征患者进行全面的突变筛查。(C)1999 Elsevier Science B. V.保留所有权利。
PAX3 is a member of the paired box family of transcription factors that function during embryogenesis and cancer epigenesis. Mutations in PAX3 cause Waardenburg syndrome (types 1 and 3), Craniofacial-deafness-hand syndrome and alveolar rhabdomyosarcoma in humans and the Splotch phenotype in mice. In this study, we describe the genomic structure of PAX3, including novel coding sequences and the complete 3' UTR. Alternative transcripts of PAX3 were identified in various tissues, including human adult skeletal muscle and mouse embryos. One of the novel alternative transcripts is evolutionarily conserved in quail and can transactivate a reporter construct containing the mouse c-met promoter. The sequences and alternative transcripts reported herein extend our understanding of the function and evolution of PAX3 in vertebrates and enable a comprehensive mutation screen for individuals with Waardenburg syndrome. (C) 1999 Elsevier Science B.V. All rights reserved.