REVIEW

Cell Research (2006): 219-226
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RNase MRP RNA and human genetic diseases

Allison N Martin, Yong Li

Correspondence: Yong Li Tel: +1-502-852-7551; Fax: +1-502-852-6222; E-mail: yong.li@louisville.edu

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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.

Cell Research (2007) 17: 219-226. doi: 10.1038/sj.cr.7310120; published online 26 December 2006

Keywords: RNase MRP RNA, cartilage-hair hypoplasia