核糖核酸酶MRP RNA与人类遗传疾病

RNase MRP RNA and human genetic diseases.

作者信息

Martin Allison N, Li Yong

机构信息

Department of Biochemistry and Molecular Biology, and Center for Genetics and Molecular Medicine, School of Medicine, University of Louisville, Louisville, KY 40202, USA.

出版信息

Cell Res. 2007 Mar;17(3):219-26. doi: 10.1038/sj.cr.7310120.

DOI:10.1038/sj.cr.7310120

PMID:17189938

Abstract

RNase MRP RNA is the RNA subunit of the RNase mitochondrial RNA processing (MRP) enzyme complex that is involved in multiple cellular RNA processing events. Mutations on RNase MRP RNA gene (RMRP) cause a recessively inherited developmental disorder, cartilage-hair hypoplasia (CHH). The relationship of the genotype (RMRP mutation), RNA processing deficiency of the RNase MRP complex, and the phenotype of CHH and other skeletal dysplasias is yet to be explored.

摘要

核糖核酸酶MRP RNA是核糖核酸酶线粒体RNA加工（MRP）酶复合物的RNA亚基，该复合物参与多种细胞RNA加工事件。核糖核酸酶MRP RNA基因（RMRP）的突变会导致一种隐性遗传的发育障碍——软骨毛发发育不全（CHH）。核糖核酸酶MRP复合物的基因型（RMRP突变）、RNA加工缺陷与CHH及其他骨骼发育异常的表型之间的关系尚待探索。