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Wikidata RNA component of mitochondrial RNA processing endoribonuclease , also known as RMRP , is a human gene .[3]
mitochondria. The RMRP gene is untranslated, i.e., it encodes an RNA not a protein.[supplied by OMIM]
[3] It is associated with cartilage–hair hypoplasia .[4]
References Further reading
Topper JN, Bennett JL, Clayton DA (July 1992). "A role for RNAase MRP in mitochondrial RNA processing" . Cell . 70 (1): 16–20. . 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. . 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. . 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. . 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. . 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. . 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. . 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. . 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. . 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. . 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. . 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. . Graf SA, Calado RT, Kajigaya S, Young NS (May 2007). "RMRP mutations in hematological disorders" . Clinical Genetics . 71 (5): 468–70. . 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. .
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