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Gene Review

RMRP  -  RNA component of mitochondrial RNA...

Homo sapiens

Synonyms: CHH, NME1, RMRPR, RRP2
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Disease relevance of RMRP


Psychiatry related information on RMRP

  • For this reason, relevant immune defense mechanisms that may be responsible for maintaining intact host defenses in the majority of CHH individuals were studied [3].

High impact information on RMRP

  • We describe numerous mutations in the untranslated RMRP gene that cosegregate with the CHH phenotype [6].
  • We conclude that mutations in RMRP cause CHH by disrupting a function of RNase MRP RNA that affects multiple organ systems [6].
  • The recessively inherited developmental disorder, cartilage-hair hypoplasia (CHH) is highly pleiotropic with manifestations including short stature, defective cellular immunity, and predisposition to several cancers [6].
  • Cartilage-hair hypoplasia gene assigned to chromosome 9 by linkage analysis [7].
  • Preservation of spontaneous NK activity and loss of all forms of culture-induced cytotoxicity was associated with an increase in the proportion of lymphocytes bearing a thymic independent NK phenotype (OKM1+ OKT3- Fc gamma + low-affinity E+), and a significant decrease in thymic derived OKT3+ cytolytic T cell sub-populations in CHH individuals [3].

Chemical compound and disease context of RMRP


Biological context of RMRP


Anatomical context of RMRP

  • RMRP mutations introduced into the yeast ortholog, NME1, exhibited normal mitochondrial function, chromosomal segregation and cell cycle progression, while a CHH fibroblast cell line exhibited normal mitochondrial content [2].
  • The short stature and metaphyseal changes associated with cone-shaped epiphyses of the hands should raise the diagnostic possibility of a CHH-related disorder that can then be confirmed by mutation analysis [9].
  • Spontaneous natural-killer (NK) activity was present at or above normal levels, but culture-induced specific cytotoxicity and NK-like cytotoxicity as well as NK-like activity by T cell lines were significantly reduced in CHH individuals [3].
  • Spontaneous and allogeneic culture-induced (mixed lymphocyte response-MLR) specific and nonspecific (NK-like) cytotoxic mechanisms were analyzed and correlated with lymphocyte subpopulations present in CHH and normal individuals [3].
  • Impaired culture generated cytotoxicity with preservation of spontaneous natural killer-cell activity in cartilage-hair hypoplasia [3].

Associations of RMRP with chemical compounds

  • CHH lymphocytes could not be stimulated to proliferate normally with B and T cell activators, mitogenic monoclonal antibody (OKT3), allogeneic cells, or chemical activators (Ca++ ionophore A23187 and phorbol myristate acetate) [13].
  • In men with AHH, serum AMH levels were also significantly increased when compared to healthy men, but less than in CHH because a persistent testicular T secretion in these patients with less complete gonadotropin deficiency [14].
  • A sensitivity-enhanced 1D (1)H spin diffusion experiment, CHH, for determining membrane protein topology is introduced [15].

Other interactions of RMRP


Analytical, diagnostic and therapeutic context of RMRP

  • Spectrum analysis of the mutations and polymorphisms in RMRP showed marked difference between the Japanese and other ethnic groups [20].
  • Co-culture experiments failed to reveal any evidence of suppression by CHH mononuclear cells [13].
  • An increased apoptosis of both CD4+ and CD8+ T cells, as determined by TUNEL assay, was observed in CHH compared to an age-matched healthy dwarf control [21].
  • Our results should encourage the use of BMT in patients with CHH who have profound immunodeficiency.Bone Marrow Transplantation (2006) 38, 751-756. doi:10.1038/sj.bmt.1705520; published online 16 October 2006 [22].
  • We describe here the prenatal diagnosis of CHH in a woman who was previously delivered of a similarly affected infant [23].


  1. Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator. Thiel, C.T., Horn, D., Zabel, B., Ekici, A.B., Salinas, K., Gebhart, E., Rüschendorf, F., Sticht, H., Spranger, J., Müller, D., Zweier, C., Schmitt, M.E., Reis, A., Rauch, A. Am. J. Hum. Genet. (2005) [Pubmed]
  2. Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia. Hermanns, P., Bertuch, A.A., Bertin, T.K., Dawson, B., Schmitt, M.E., Shaw, C., Zabel, B., Lee, B. Hum. Mol. Genet. (2005) [Pubmed]
  3. Impaired culture generated cytotoxicity with preservation of spontaneous natural killer-cell activity in cartilage-hair hypoplasia. Pierce, G.F., Brovall, C., Schacter, B.Z., Polmar, S.H. J. Clin. Invest. (1983) [Pubmed]
  4. Ribosomes and marrow failure: coincidental association or molecular paradigm? Liu, J.M., Ellis, S.R. Blood (2006) [Pubmed]
  5. Hirschsprung disease associated with severe cartilage-hair hypoplasia. Mäkitie, O., Kaitila, I., Rintala, R. J. Pediatr. (2001) [Pubmed]
  6. Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia. 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. Cell (2001) [Pubmed]
  7. Cartilage-hair hypoplasia gene assigned to chromosome 9 by linkage analysis. Sulisalo, T., Sistonen, P., Hästbacka, J., Wadelius, C., Mäkitie, O., de la Chapelle, A., Kaitila, I. Nat. Genet. (1993) [Pubmed]
  8. Lipopolysaccharide-induced hyperglycemia is mediated by CHH release in crustaceans. Lorenzon, S., Giulianini, P.G., Ferrero, E.A. Gen. Comp. Endocrinol. (1997) [Pubmed]
  9. RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms. Bonafé, L., Schmitt, K., Eich, G., Giedion, A., Superti-Furga, A. Clin. Genet. (2002) [Pubmed]
  10. Mutations in the RNA component of RNase mitochondrial RNA processing might cause Omenn syndrome. Roifman, C.M., Gu, Y., Cohen, A. J. Allergy Clin. Immunol. (2006) [Pubmed]
  11. The gene for the RNA component of the mitochondrial RNA-processing endoribonuclease is located on human chromosome 9p and on mouse chromosome 4. Hsieh, C.L., Donlon, T.A., Darras, B.T., Chang, D.D., Topper, J.N., Clayton, D.A., Francke, U. Genomics (1990) [Pubmed]
  12. Evolutionary comparison provides evidence for pathogenicity of RMRP mutations. Bonafé, L., Dermitzakis, E.T., Unger, S., Greenberg, C.R., Campos-Xavier, B.A., Zankl, A., Ucla, C., Antonarakis, S.E., Superti-Furga, A., Reymond, A. PLoS Genet. (2005) [Pubmed]
  13. Lymphocyte dysfunction in cartilage-hair hypoplasia: evidence for an intrinsic defect in cellular proliferation. Pierce, G.F., Polmar, S.H. J. Immunol. (1982) [Pubmed]
  14. Hypogonadotropic hypogonadism as a model of post-natal testicular anti-Müllerian hormone secretion in humans. Young, J., Rey, R., Schaison, G., Chanson, P. Mol. Cell. Endocrinol. (2003) [Pubmed]
  15. A 1D sensitivity-enhanced 1H spin diffusion experiment for determining membrane protein topology. Luo, W., Hong, M. Solid state nuclear magnetic resonance. (2006) [Pubmed]
  16. Associations of the skeletal and immune systems. Hong, R. Am. J. Med. Genet. (1989) [Pubmed]
  17. Analysis of RPS19 in patients with cartilage-hair hypoplasia and severe anemia: preliminary results. Williams, M.S., Hermanns, P. Am. J. Med. Genet. A (2005) [Pubmed]
  18. Genetic changes in the RNA components of RNase MRP and RNase P in Schmid metaphyseal chondrodysplasia. Ridanpää, M., Ward, L.M., Rockas, S., Särkioja, M., Mäkelä, H., Susic, M., Glorieux, F.H., Cole, W.G., Mäkitie, O. J. Med. Genet. (2003) [Pubmed]
  19. Health-related quality of life of patients with genetic skeletal dysplasias. Apajasalo, M., Sintonen, H., Rautonen, J., Kaitila, I. Eur. J. Pediatr. (1998) [Pubmed]
  20. RMRP mutations in Japanese patients with cartilage-hair hypoplasia. Nakashima, E., Mabuchi, A., Kashimada, K., Onishi, T., Zhang, J., Ohashi, H., Nishimura, G., Ikegawa, S. Am. J. Med. Genet. A (2003) [Pubmed]
  21. Cartilage-hair hypoplasia syndrome: increased apoptosis of T lymphocytes is associated with altered expression of Fas (CD95), FasL (CD95L), IAP, Bax, and Bcl2. Yel, L., Aggarwal, S., Gupta, S. J. Clin. Immunol. (1999) [Pubmed]
  22. Bone marrow transplantation for cartilage-hair-hypoplasia. Guggenheim, R., Somech, R., Grunebaum, E., Atkinson, A., Roifman, C.M. Bone Marrow Transplant. (2006) [Pubmed]
  23. Cartilage-hair hypoplasia syndrome: implications for prenatal diagnosis. Dungan, J.S., Emerson, D.S., Phillips, O.P., Shulman, L.P. Fetal. Diagn. Ther. (1996) [Pubmed]
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