RNA component of mitochondrial RNA processing endoribonuclease, also known as RMRP, is a human gene.
Mitochondrial RNA-processing endoribonuclease cleaves mitochondrial RNA complementary to the light chain of the displacement loop at a unique site (Chang and Clayton, 1987). The enzyme is a ribonucleoprotein whose RNA component is a nuclear gene product. The RNA component is the first RNA encoded by a single-copy gene in the nucleus and imported into mitochondria. The RMRP gene is untranslated, i.e., it encodes an RNA not a protein.[supplied by OMIM]
It is associated with cartilage–hair hypoplasia.
Further reading
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Topper JN, Bennett JL, Clayton DA (July 1992). "A role for RNAase MRP in mitochondrial RNA processing". Cell. 70 (1): 16–20. doi:10.1016/0092-8674(92)90529-L. PMID 1623519. S2CID 5284210.
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Chang DD, Clayton DA (February 1987). "A novel endoribonuclease cleaves at a priming site of mouse mitochondrial DNA replication". The EMBO Journal. 6 (2): 409–17. doi:10.1002/j.1460-2075.1987.tb04770.x. PMC 553411. PMID 3582365.
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van Eenennaam H, Pruijn GJ, van Venrooij WJ (June 1999). "hPop4: a new protein subunit of the human RNase MRP and RNase P ribonucleoprotein complexes". Nucleic Acids Research. 27 (12): 2465–72. doi:10.1093/nar/27.12.2465. PMC 148449. PMID 10352175.
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Ridanpää M, van Eenennaam H, Pelin K, Chadwick R, Johnson C, Yuan B, vanVenrooij W, Pruijn G, Salmela R, Rockas S, Mäkitie O, Kaitila I, de la Chapelle A (January 2001). "Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia". Cell. 104 (2): 195–203. doi:10.1016/S0092-8674(01)00205-7. PMID 11207361. S2CID 13977736.
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Bonafé L, Schmitt K, Eich G, Giedion A, Superti-Furga A (February 2002). "RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms". Clinical Genetics. 61 (2): 146–51. doi:10.1034/j.1399-0004.2002.610210.x. PMID 11940090. S2CID 7284120.
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Ridanpää M, Sistonen P, Rockas S, Rimoin DL, Mäkitie O, Kaitila I (July 2002). "Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin of the major70A-->G mutation of the untranslated RMRP". European Journal of Human Genetics. 10 (7): 439–47. doi:10.1038/sj.ejhg.5200824. PMID 12107819.
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Welting TJ, van Venrooij WJ, Pruijn GJ (2004). "Mutual interactions between subunits of the human RNase MRP ribonucleoprotein complex". Nucleic Acids Research. 32 (7): 2138–46. doi:10.1093/nar/gkh539. PMC 407822. PMID 15096576.
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Bonafé L, Dermitzakis ET, Unger S, Greenberg CR, Campos-Xavier BA, Zankl A, Ucla C, Antonarakis SE, Superti-Furga A, Reymond A (October 2005). "Evolutionary comparison provides evidence for pathogenicity of RMRP mutations". PLOS Genetics. 1 (4): e47. doi:10.1371/journal.pgen.0010047. PMC 1262189. PMID 16244706.
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Thiel CT, Horn D, Zabel B, Ekici AB, Salinas K, Gebhart E, Rüschendorf F, Sticht H, Spranger J, Müller D, Zweier C, Schmitt ME, Reis A, Rauch A (November 2005). "Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator". American Journal of Human Genetics. 77 (5): 795–806. doi:10.1086/497708. PMC 1271388. PMID 16252239.
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Hermanns P, Bertuch AA, Bertin TK, Dawson B, Schmitt ME, Shaw C, Zabel B, Lee B (December 2005). "Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia". Human Molecular Genetics. 14 (23): 3723–40. doi:10.1093/hmg/ddi403. PMID 16254002.
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Hirose Y, Nakashima E, Ohashi H, Mochizuki H, Bando Y, Ogata T, Adachi M, Toba E, Nishimura G, Ikegawa S (2006). "Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasia". Journal of Human Genetics. 51 (8): 706–10. doi:10.1007/s10038-006-0015-3. PMID 16832578.
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Hermanns P, Tran A, Munivez E, Carter S, Zabel B, Lee B, Leroy JG (October 2006). "RMRP mutations in cartilage-hair hypoplasia". American Journal of Medical Genetics. Part A. 140 (19): 2121–30. doi:10.1002/ajmg.a.31331. PMID 16838329. S2CID 43692280.
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Graf SA, Calado RT, Kajigaya S, Young NS (May 2007). "RMRP mutations in hematological disorders". Clinical Genetics. 71 (5): 468–70. doi:10.1111/j.1399-0004.2007.00776.x. PMID 17489853. S2CID 43030115.
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Thiel CT, Mortier G, Kaitila I, Reis A, Rauch A (September 2007). "Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum". American Journal of Human Genetics. 81 (3): 519–29. doi:10.1086/521034. PMC 1950841. PMID 17701897.
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