生物
MyoD公司
遗传学
马查多-约瑟夫病
基因
转录因子
塔塔盒子
三核苷酸重复扩增
分子生物学
发起人
基因表达
细胞生物学
等位基因
脊髓小脑共济失调
作者
Maria do Carmo Costa,JOANA GOMES‐DA‐SILVA,Carlos J. Miranda,Jorge Sequeiros,Miguel M. Santos,Patrı́cia Maciel
出处
期刊:Genomics
[Elsevier]
日期:2004-08-01
卷期号:84 (2): 361-373
被引量:28
标识
DOI:10.1016/j.ygeno.2004.02.012
摘要
Machado–Joseph disease (MJD) is a neurodegenerative disorder, caused by the expansion of the (CAG)n tract in the MJD gene. This encodes the protein ataxin-3, of unknown function. The mouse Mjd gene has a structure similar to that of its human counterpart and it also contains a TATA-less promoter. Its 5′ flanking region contains conserved putative binding regions for transcription factors Sp1, USF, Arnt, Max, E47, and MyoD. Upon differentiation of P19 cells, the Mjd gene promoter is preferentially activated in endodermal and mesodermal derivatives, including cardiac and skeletal myocytes; and less so in neuronal precursors. Mouse ataxin-3 is ubiquitously expressed during embryonic development and in the adult, with strong expression in regions of the CNS affected in MJD. It is particularly abundant in all types of muscle and in ciliated epithelial cells, suggesting that it may be associated with the cytoskeleton and may have an important function in cell structure and/or motility.
科研通智能强力驱动
Strongly Powered by AbleSci AI