- RMRP
RNA component of mitochondrial RNA processing endoribonuclease, also known as RMRP, is a human
gene .PBB_Summary
section_title =
summary_text = 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 RNRP gene is untranslated, i.e., it encodes an RNA not a protein. [supplied by OMIM] cite web | title = Entrez Gene: RMRP RNA component of mitochondrial RNA processing endoribonuclease| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6023| accessdate = ]References
Further reading
PBB_Further_reading
citations =
*cite journal | author=Topper JN, Bennett JL, Clayton DA |title=A role for RNAase MRP in mitochondrial RNA processing. |journal=Cell |volume=70 |issue= 1 |pages= 16–20 |year= 1992 |pmid= 1623519 |doi=10.1016/0092-8674(92)90529-L
*cite journal | author=Chang DD, Clayton DA |title=A novel endoribonuclease cleaves at a priming site of mouse mitochondrial DNA replication. |journal=Embo J. |volume=6 |issue= 2 |pages= 409–17 |year= 1987 |pmid= 3582365 |doi=
*cite journal | author=van Eenennaam H, Pruijn GJ, van Venrooij WJ |title=hPop4: a new protein subunit of the human RNase MRP and RNase P ribonucleoprotein complexes. |journal=Nucleic Acids Res. |volume=27 |issue= 12 |pages= 2465–72 |year= 1999 |pmid= 10352175 |doi=10.1093/nar/27.12.2465
*cite journal | author=Ridanpää M, van Eenennaam H, Pelin K, "et al." |title=Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia. |journal=Cell |volume=104 |issue= 2 |pages= 195–203 |year= 2001 |pmid= 11207361 |doi=10.1016/S0092-8674(01)00205-7
*cite journal | author=Bonafé L, Schmitt K, Eich G, "et al." |title=RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms. |journal=Clin. Genet. |volume=61 |issue= 2 |pages= 146–51 |year= 2002 |pmid= 11940090 |doi=10.1034/j.1399-0004.2002.610210.x
*cite journal | author=Ridanpää M, Sistonen P, Rockas S, "et al." |title=Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin of the major70A-->G mutation of the untranslated RMRP. |journal=Eur. J. Hum. Genet. |volume=10 |issue= 7 |pages= 439–47 |year= 2003 |pmid= 12107819 |doi= 10.1038/sj.ejhg.5200824
*cite journal | author=Welting TJ, van Venrooij WJ, Pruijn GJ |title=Mutual interactions between subunits of the human RNase MRP ribonucleoprotein complex. |journal=Nucleic Acids Res. |volume=32 |issue= 7 |pages= 2138–46 |year= 2004 |pmid= 15096576 |doi= 10.1093/nar/gkh539
*cite journal | author=Bonafé L, Dermitzakis ET, Unger S, "et al." |title=Evolutionary comparison provides evidence for pathogenicity of RMRP mutations. |journal=PLoS Genet. |volume=1 |issue= 4 |pages= e47 |year= 2006 |pmid= 16244706 |doi= 10.1371/journal.pgen.0010047
*cite journal | author=Thiel CT, Horn D, Zabel B, "et al." |title=Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator. |journal=Am. J. Hum. Genet. |volume=77 |issue= 5 |pages= 795–806 |year= 2006 |pmid= 16252239 |doi= 10.1086/497708
*cite journal | author=Hermanns P, Bertuch AA, Bertin TK, "et al." |title=Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia. |journal=Hum. Mol. Genet. |volume=14 |issue= 23 |pages= 3723–40 |year= 2006 |pmid= 16254002 |doi= 10.1093/hmg/ddi403
*cite journal | author=Hirose Y, Nakashima E, Ohashi H, "et al." |title=Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasia. |journal=J. Hum. Genet. |volume=51 |issue= 8 |pages= 706–10 |year= 2006 |pmid= 16832578 |doi= 10.1007/s10038-006-0015-3
*cite journal | author=Hermanns P, Tran A, Munivez E, "et al." |title=RMRP mutations in cartilage-hair hypoplasia. |journal=Am. J. Med. Genet. A |volume=140 |issue= 19 |pages= 2121–30 |year= 2006 |pmid= 16838329 |doi= 10.1002/ajmg.a.31331
*cite journal | author=Graf SA, Calado RT, Kajigaya S, Young NS |title=RMRP mutations in hematological disorders. |journal=Clin. Genet. |volume=71 |issue= 5 |pages= 468–70 |year= 2007 |pmid= 17489853 |doi= 10.1111/j.1399-0004.2007.00776.x
*cite journal | author=Thiel CT, Mortier G, Kaitila I, "et al." |title=Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum. |journal=Am. J. Hum. Genet. |volume=81 |issue= 3 |pages= 519–29 |year= 2007 |pmid= 17701897 |doi= 10.1086/521034PBB_Controls
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