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RNA component of mitochondrial RNA processing endoribonuclease, also known as RMRP, is a human gene.[1]{{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][1]
}}It is associated with cartilage–hair hypoplasia.[2] References1. ^1 {{cite web | title = Entrez Gene: RMRP RNA component of mitochondrial RNA processing endoribonuclease| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6023| accessdate = }}
2. ^{{cite journal |vauthors=Hirose Y, Nakashima E, Ohashi H, etal |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 }}
Further reading{{refbegin | 2}}- {{cite journal | vauthors=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 | vauthors=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= | pmc=553411 }}
- {{cite journal | vauthors=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 | pmc=148449 }}
- {{cite journal |vauthors=Ridanpää M, van Eenennaam H, Pelin K, etal |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 |vauthors=Bonafé L, Schmitt K, Eich G, etal |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 |vauthors=Ridanpää M, Sistonen P, Rockas S, etal |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 | vauthors=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 | pmc=407822 }}
- {{cite journal |vauthors=Bonafé L, Dermitzakis ET, Unger S, etal |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 | pmc=1262189 }}
- {{cite journal |vauthors=Thiel CT, Horn D, Zabel B, etal |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 | pmc=1271388 }}
- {{cite journal |vauthors=Hermanns P, Bertuch AA, Bertin TK, etal |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 |vauthors=Hirose Y, Nakashima E, Ohashi H, etal |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 |vauthors=Hermanns P, Tran A, Munivez E, etal |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 | vauthors=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 |vauthors=Thiel CT, Mortier G, Kaitila I, etal |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= 10.1086/521034 | pmc=1950841 }}
{{refend}}External links- {{MeshName|RMRP,+human}}
- [https://www.ncbi.nlm.nih.gov/books/NBK84550/ GeneReviews/NCBI/NIH/UW entry on Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders]
{{protein-stub}} 2 : RNA|Proteins |