Gene Symbol: RMRP
Description: RNA component of mitochondrial RNA processing endoribonuclease
Alias: CHH, NME1, RMRPR, RRP2
- Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulatorChristian T Thiel
Institute of Human Genetics, University of Erlangen Nurnberg, Erlangen, Germany
Am J Hum Genet 77:795-806. 2005..Homozygosity mapping led to the identification of novel mutations in the RMRP gene, which was previously known to cause two milder types of short stature with susceptibility to cancer, ..
- Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin of the major70A-->G mutation of the untranslated RMRPMaaret Ridanpää
Folkhalsan Institute of Genetics, Biomedicum Helsinki, FI 00014 University of Helsinki, Finland
Eur J Hum Genet 10:439-47. 2002Pleiotropic, recessively inherited cartilage-hair hypoplasia (CHH) is due to mutations in the untranslated RMRP gene on chromosome 9p13-p12 encoding the RNA component of RNase MRP endoribonuclease...
- Mutual interactions between subunits of the human RNase MRP ribonucleoprotein complexTim J M Welting
Department of Biochemistry, Nijmegen Center for Molecular Life Sciences, University of Nijmegen, Nijmegen, The Netherlands
Nucleic Acids Res 32:2138-46. 2004..The results provide insight into the way the protein and RNA subunits assemble into a ribonucleoprotein particle. Based upon these data a new model for the architecture of the human RNase MRP complex was generated...
- RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphismsL Bonafe
Division of Metabolism and Molecular Paediatrics and Division of Radiology, University Children s Hospital, Zurich, Switzerland
Clin Genet 61:146-51. 2002Mutations in the RMRP gene that codes for an RNA subunit of the MRP RNAse complex are the cause of cartilage-hair hypoplasia (CHH; MIM 250250)...
- Short stature and metaphyeal dysplasia due to cartilage-hair hypoplasiaLouise S Conwell
Department of Endocrinology and Diabetes, Royal Children's Hospital, Brisbane, Australia
J Pediatr Endocrinol Metab 21:209-11. 2008
- A multiplex family with possible metaphyseal Spahr-type dysplasia and exclusion of RMRP and COL10A1 as candidate genesAndre Megarbane
Unite de Genetique Medicale, Faculte de Medecine, Université Saint Joseph, Beirut, Lebanon
Am J Med Genet A 146:1865-70. 2008..We suggest that this family is affected with the Spahr type of metaphyseal chondrodysplasia. Sequencing of RMRP, and a haplotype analysis using highly informative markers around the COL10A1 excluded both genes from being ..
- Clinical and genetic distinction of Schimke immuno-osseous dysplasia and cartilage-hair hypoplasiaAlireza Baradaran-Heravi
Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, Canada
Am J Med Genet A 146:2013-7. 2008
- Variability of clinical and laboratory features among patients with ribonuclease mitochondrial RNA processing endoribonuclease gene mutationsFotini D Kavadas
Division of Immunology and Allergy, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada
J Allergy Clin Immunol 122:1178-84. 2008..type of metaphyseal chondrodysplasia, caused by mutations in the ribonuclease mitochondrial RNA processing (RMRP) gene...
- Cartilage-hair hypoplasia: molecular basis and heterogeneity of the immunological phenotypeLuigi D Notarangelo
Division of Immunology, Children s Hospital Boston, Boston, Massachusetts 02115, USA
Curr Opin Allergy Clin Immunol 8:534-9. 2008..spectrum associated with ribonuclease mitochondrial RNA-processing mutations and to review the cellular and molecular mechanisms involved in the pathophysiology of cartilage-hair hypoplasia (CHH) and related disorders in humans.
- An RNA-dependent RNA polymerase formed by TERT and the RMRP RNAYoshiko Maida
Cancer Stem Cell Project, National Cancer Center Research Institute, 5 1 1 Tsukiji, Chuo Ku, Tokyo 104 0045, Japan
Nature 461:230-5. 2009..Here we show that TERT interacts with the RNA component of mitochondrial RNA processing endoribonuclease (RMRP), a gene that is mutated in the inherited pleiotropic syndrome cartilage-hair hypoplasia...
- Cartilage hair hypoplasia mutations that lead to RMRP promoter inefficiency or RNA transcript instabilityEiji Nakashima
Laboratory of Genetics, NIH National Institute on Aging, Baltimore, Maryland 21224, USA
Am J Med Genet A 143:2675-81. 2007..It is caused by mutations in RMRP gene, the RNA component of the ribonucleoprotein complex RNase MRP...
- Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrumChristian T Thiel
Institute of Human Genetics, University Hospital Erlangen, University of Erlangen Nuremberg, Erlangen, Germany
Am J Hum Genet 81:519-29. 2007Mutations in the RMRP gene lead to a wide spectrum of autosomal recessive skeletal dysplasias, ranging from the milder phenotypes metaphyseal dysplasia without hypotrichosis and cartilage hair hypoplasia (CHH) to the severe anauxetic ..
- RMRP mutations in hematological disordersS A Graf
Clin Genet 71:468-70. 2007
- RMRP mutations in cartilage-hair hypoplasiaPia Hermanns
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
Am J Med Genet A 140:2121-30. 2006..is due to either the homozygous or compound heterozygous mutations in the nuclear encoded, non-coding RNA gene RMRP. Twenty-seven CHH patients were referred for molecular evaluation of the clinical diagnosis...
- Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasiaYuichiro Hirose
Laboratory for Bone and Joint Diseases, SNP Research Center, RIKEN, 4 6 1 Shirokanedai, Minato ku, Tokyo 108 8639, Japan
J Hum Genet 51:706-10. 2006..CHH is caused by mutations in RMRP (ribonuclease mitochondrial RNA processing), the gene encoding the RNA component of the ribonucleoprotein complex ..
- Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasiaPia Hermanns
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Hum Mol Genet 14:3723-40. 2005..RMRP mutations introduced into the yeast ortholog, NME1, exhibited normal mitochondrial function, chromosomal segregation and cell cycle progression, while a CHH ..
- Evolutionary comparison provides evidence for pathogenicity of RMRP mutationsLuisa Bonafe
Division of Molecular Pediatrics, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
PLoS Genet 1:e47. 2005Cartilage-hair hypoplasia (CHH) is a pleiotropic disease caused by recessive mutations in the RMRP gene that result in a wide spectrum of manifestations including short stature, sparse hair, metaphyseal dysplasia, anemia, immune ..
- Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasiaM Ridanpaa
Folkhalsan Institute of Genetics, 00280 Helsinki, Finland
Cell 104:195-203. 2001..We describe numerous mutations in the untranslated RMRP gene that cosegregate with the CHH phenotype...
- hPop4: a new protein subunit of the human RNase MRP and RNase P ribonucleoprotein complexesH van Eenennaam
Department of Biochemistry, University of Nijmegen, PO Box 9101, NL 6500 HB Nijmegen, The Netherlands
Nucleic Acids Res 27:2465-72. 1999..Finally we showed that anti-hPop4 immunoprecipitates possess RNase P enzymatic activity. Taken together, these data show that we have identified a protein that represents the human counterpart of the yeast Pop4p protein...
- Fatal adult-onset antibody deficiency syndrome in a patient with cartilage hair hypoplasiaJulia Horn
Department of Rheumatology and Clinical Immunology, University Medical Center Freiburg, Freiburg, Germany
Hum Immunol 71:916-9. 2010..CHH) is an autosomal recessive disorder caused by mutations in the ribonuclease mitochondrial RNA-processing (RMRP) gene...