title: RNase MRP RNA and human genetic diseases.
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.
authors.affiliation: Department of Biochemistry and Molecular Biology, and Center for Genetics and Molecular Medicine, School of Medicine, University of Louisville, Louisville, KY 40202, USA.
authors.forename: Allison N
authors.initials: AN
authors.lastname: Martin
authors.forename: Yong
authors.initials: Y
authors.lastname: Li
mesh_terms: D001483:Base Sequence; D002357:Cartilage Diseases / Q000235:genetics; D004722:Endoribonucleases / Q000235:genetics / Q000502:physiology*; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D006201:Hair Diseases / Q000235:genetics; D006801:Humans; D008957:Models, Genetic; D008969:Molecular Sequence Data; D009690:Nucleic Acid Conformation; D012313:RNA / Q000378:metabolism; D016337:RNA, Catalytic / Q000235:genetics / Q000502:physiology*; D000077278:RNA, Mitochondrial; D043262:Ribonuclease P / Q000502:physiology
chemical_list: D016337:RNA, Catalytic; D000077278:RNA, Mitochondrial; D012313:RNA; D004722:Endoribonucleases; C058330:mitochondrial RNA-processing endoribonuclease; D043262:Ribonuclease P