Review
Cell Research (2007) 17: 219–226. doi: 10.1038/sj.cr.7310120; published online 26 December 2006
RNase MRP RNA and human genetic diseases
Allison N Martin1 and Yong Li1
1Department of Biochemistry and Molecular Biology, and Center for Genetics and Molecular Medicine, School of Medicine, University of Louisville, 319 Abraham Flexner Way, Louisville, KY 40202, USA
Correspondence: Yong Li, Tel: +1-502-852-7551; Fax: +1-502-852-6222; E-mail: yong.li@louisville.edu
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.
Keywords:
RNase MRP RNA, cartilage-hair hypoplasia
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